3. DEFINITION
• The term anemia describes the
condition in which the number of
RBC’s and/or the hemoglobin
concentration is reduced below
normal. As a result of this
decrease, oxygen carrying
capacity of the blood is diminished,
causing a reduction in the oxygen
available to the tissues.
4. • In developing nations, the prevalence
of anemia is extremely high.
• This is particularly true in preschool-
aged children, in whom the prevalence
reached as high as 90% of the sample
population studied.
• Although iron deficiency is identified
as the major factor, the etiology is
often multifactorial, including recurrent
or chronic infections (bacteria,
parasites), malnutrition, and reduced
immunity.
INCIDENCE
5. Anemia caused by decreased
red cell production
• This generally develops gradually
and causes chronic anemia. Marrow
failure may result from the following:
• Diamond-Blackfan anemia
(congenital pure red cell aplasia)
• Transient erythroblastopenia of
childhood
6. ETIOLOGY
Causes of anemia are either inherent in
the RBCs or related to an external
factor. The underlying pathologic
processes that cause anemia can be
broadly categorized as
• (1) Decreased or ineffective red cell
production,
• (2) Increased red cell destruction
(hemolysis), and
• (3) Blood loss.
7. • Aplastic crisis caused by parvovirus
B19 infection (in patients with an
underlying chronic hemolytic anemia)
• Marrow replacement (eg, leukemia,
neuroblastoma, medulloblastoma,
retinoblastoma, Ewing sarcoma, soft
tissue sarcoma, myelofibrosis,
osteopetrosis)
• Aplastic anemia
• Paroxysmal nocturnal hemoglobinuria
(PNH)
8. • Impaired erythropoietin production may
result from the following:
• Anemia of chronic disease in renal
failure
• Chronic inflammatory diseases
• Hypothyroidism
• Severe protein malnutrition
9. • Defect in red cell maturation and
ineffective erythropoiesis may result
from the following:
• Nutritional anemia secondary to iron,
folate, or vitamin B-12 deficiency
• Congenital dyserythropoietic anemia
• Thalassemias
10. Anemia caused by increased
red cell destruction
• Extracellular causes may include the
following:
• Mechanical injury (hemolytic-uremic
syndrome, cardiac valvular defects,
hemangioma with thrombocytopenia)
• Antibodies (autoimmune hemolytic anemia)
• Infections, drugs, toxins
• Thermal injury to RBCs (with severe burns)
11. • Intracellular causes may include the
following:
• Red cell membrane defects (eg,
hereditary spherocytosis, elliptocytosis)
• Enzyme defects (eg, G-6-PD deficiency,
pyruvate kinase deficiency)
• Hemoglobinopathies (sickle cell disease,
unstable hemoglobinopathies)
• PNH ( Paroxysmal nocturnal
hemoglobinuria )
12. • Anemia caused by blood loss
• Obvious or occult sites of blood loss may
include the GI tract or intra-abdominal,
pulmonary, or intracranial (in neonates)
sites. Patients with bleeding disorders are at
particular risk for massive hemorrhage
(internal or external).
13. • Acute anemia caused by multiple
mechanisms
• Anemia associated with acute infection is
common. This may be mediated by
increased destruction by
erythrophagocytosis and suppression of
erythropoiesis by the infection.
15. Anemia Caused by
Destruction of RBCs
• Hemolytic anemia occurs when red blood
cells are being destroyed prematurely.
• The normal lifespan of RBCs is 120 days;
in hemolytic anemia, it's much shorter.
• And the bone marrow (the soft, spongy
tissue inside bones that makes new blood
cells) simply can't keep up with the body's
demand for new cells.
• This can happen for a variety of reasons-
16. • In autoimmune hemolytic anemia, the
immune system mistakes RBCs for
foreign invaders and begins destroying
them. Other kids inherit defects in the
red blood cells that lead to anemia;
common forms of inherited hemolytic
anemia include sickle cell anemia,
thalassemia, glucose-6-phosphate
dehydrogenase (G6PD) deficiency, and
hereditary spherocytosis.
17. • Sickle cell anemia is a severe form of
anemia found most commonly in people
of African heritage, although it can affect
those of Middle Eastern and
Mediterranean descent, as well as others.
In this condition, the hemoglobin forms
long rods when it gives up its oxygen,
stretching red blood cells into abnormal
sickle shapes. This leads to premature
destruction of RBCs, resulting in
chronically low levels of hemoglobin.
18. • These abnormal red cells can clog
small blood vessels, leading to
recurring episodes of pain, as well as
problems that can affect virtually
every other organ system in the body.
About 1 out of every 500 African-
American children is born with this
form of anemia.
19. • Thalassemia, which usually affects
people of Mediterranean, African, and
Southeast Asian descent, is marked
by abnormal and short-lived RBCs.
Thalassemia major, also called
Cooley's anemia, is a severe form of
anemia in which RBCs are rapidly
destroyed and iron is deposited in the
vital organs. Thalassemia minor
results in less severe anemia.
20. • Glucose-6-phosphate dehydrogenase (G6PD)
deficiency most commonly affects males of
African heritage, although it has been found in
many other groups of people. With this
condition the RBCs either do not make enough
of the enzyme G6PD or the enzyme that is
produced is abnormal and doesn't work well.
When someone born with this deficiency has
an infection, takes certain medicines, or is
exposed to specific substances, the body's
RBCs suffer extra stress. Without adequate
G6PD to protect them, many red blood cells
are destroyed prematurely.
21. • Hereditary spherocytosis is a genetic
disorder of the RBC's membrane that
can cause anemia, jaundice (yellow-
tinged skin), and enlargement of the
spleen. The RBCs have a smaller
surface area than normal red blood
cells, which can cause them to break
open easily. A family history increases
the risk for this disorder, which is most
common in people of northern European
descent but can affect all races.
22. Anemia Caused by Blood Loss
• Blood loss can also cause anemia-
excessive bleeding due to injury, surgery, or
a problem with the blood's clotting ability.
Slower, long-term blood loss -- intestinal
bleeding from inflammatory bowel disease,
can also cause anemia. Anemia sometimes
results from heavy menstrual periods in teen
girls and women. Any of these factors will
also increase the body's need for iron
because iron is needed to make new RBCs.
23. Anemia Caused by Inadequate
Production of RBCs
• Aplastic anemia occurs when the bone
marrow can't make enough blood cells. This
can be due to a viral infection, or exposure
to certain toxic chemicals, radiation, or
medications (such as antibiotics, anti-
seizure drugs, or cancer treatments). Some
childhood cancers can also cause aplastic
anemia, as can certain genetic and other
chronic diseases that affect the ability of the
bone marrow to function properly.
24. Physiologic anemia of infancy:
• High levels of hemoglobin and RBCs help fetal
blood carry enough oxygen to developing
babies in the relatively oxygen-poor
environment in utero. After birth, more oxygen
is available and the baby's Hb level normally
drops to a low point at about 2 months of age, a
condition known as physiologic anemia of
infancy. This temporary and expected drop in
the blood count is considered normal and no
treatment is required because the infant's body
soon starts making RBCs on its own.
25. Iron deficiency anemia
• Anemia also occurs when the body isn't able
to produce enough healthy RBCs because of
an iron deficiency. Iron is essential to
hemoglobin production. Poor dietary iron
intake (or excessive loss of iron from the
body) can lead to iron deficiency anemia, the
most common cause of anemia in kids. Iron
deficiency anemia can affect kids at any age,
but is most common in those younger than 2
years old. Young children who drink
excessive amounts of milk are at increased
risk for iron deficiency.
26. • Girls going through puberty also
have a particularly high risk for iron
deficiency anemia because of the
onset of menstruation; the monthly
blood loss increases the amount of
iron they need to consume in their
diets.
28. Definition
• Hemolytic anemia is a form
of anemia due to hemolysis, the
abnormal breakdown of red blood
cells (RBCs), either in the blood
vessels (intravascular hemolysis)
or elsewhere in the human body
(extravascular).
30. Acquired
• Immune:
– Isoimmune: haemolytic disease of newborn, blood
transfusion reaction.
• Autoimmune:
– Warm antibody type: idiopathic, systemic lupus
erythematosus (SLE), lymphoma, chronic lymphatic
leukaemia (CLL), Evans' syndrome
(thrombocytopenia associated with a positive direct
Coombs' test).
31. – Cold antibody type: cold haemagglutinin
disease, paroxysmal cold
haemoglobinuria, Mycoplasma
pneumoniae, lymphoma, infectious
mononucleosis or other viral infections
– Drug-related: drug absorbed on to red cell
surface, eg penicillins, cephalosporins, or
immune complex mediated, eg
sulphonamides, sulfasalazine.
32. • Non-immune: trauma (cardiac haemolysis,
microangiopathic anaemia (found in patients
with disseminated intravascular coagulation
or haemolytic uraemic syndrome and
thrombotic thrombocytopenic purpura), infection
(malaria, septicaemia), hypersplenism,
membrane disorders, paroxysmal nocturnal
haemoglobinuria, liver disease
33. Clinical features
• Symptoms
• Symptoms are due to both anaemia and the
underlying disorder. Patients with minimal or
long-standing haemolytic anaemia can be
asymptomatic.
• Severe anaemia, especially of sudden onset,
may cause tachycardia, dyspnoea, angina and
weakness.
34. • Gallstones may cause abdominal pain. Bilirubin
stones can develop in patients with persistent
haemolysis.
• Haemoglobinuria can occur in patients with
intravascular haemolysis, and it produces dark
urine.
• Signs
• Signs of anaemia: general pallor and pale
conjunctivae. Tachycardia, tachypnoea and
hypotension if severe.
• Mild jaundice may occur due to haemolysis.
35. • Splenomegaly: occurs with some causes, eg
hereditary spherocytosis. It may indicate an
underlying condition such as CLL, lymphoma or
SLE.
• Leg ulcers may occur in some causes of
haemolytic anaemia, eg sickle cell anaemia.
36. • Right upper abdominal quadrant tenderness
may indicate gallbladder disease.
• Bleeding and petechiae indicate
thrombocytopenia due to Evans' syndrome
or thrombotic thrombocytopenic purpura if
neurological signs are also present.
• Signs of underlying disorder, eg malar rash
in patients with SLE.
37. Investigations
• Nonspecific findings
• FBC:
– Platelet count: normal in most haemolytic
anaemias. Thrombocytopenia can occur in SLE,
CLL, and microangiopathic haemolytic anaemia
(defective prosthetic cardiac valves, thrombotic
thrombocytopenic purpura, haemolytic uraemic
syndrome and disseminated intravascular
coagulation).
38. • A normal MCV and mean
corpuscular haemoglobin (MCH):
consistent with a normocytic
hypochromic anaemia.
– High MCH and MCH concentration
(MCHC): suggest spherocytosis.
39. • Coombs' test: the direct Coombs' test is used
clinically when immune-mediated haemolytic
anaemia (antibody-mediated destruction of
RBCs) is suspected.
• Cold agglutinins: a high titre of anti-I antibody
may be found in mycoplasma infections and a
high titre of anti-I antibody may be found in
haemolysis associated with infectious
mononucleosis. An anti-P cold agglutinin may
be seen in paroxysmal cold haemoglobinuria.
40. • Ultrasound to estimate spleen size:
physical examination is not
reliable.
• CXR and ECG: may be needed to
assess cardiopulmonary status.
41. Identify the cause
• Genetic:
– Red cell morphology: spherocytes
(suggest congenital spherocytosis or autoimmune
haemolytic anaemia), elliptocytes, schistocytes
(fragmented red cells suggesting thrombotic
thrombocytopenic purpura, haemolytic uraemic
syndrome or mechanical damage).
– Screen for sickle cell: sickling under reduced
conditions.
– Haemoglobin electrophoresis.
– Red cell enzyme assays.
42. • Acquired:
– Antibodies: IgG warm antibodies in
autoimmune haemolytic anaemia react at
37°C whereas IgM cold antibodies react at
lower temperatures, ie 20°C or below. The
direct antiglobulin test is usually, but not
always, positive in autoimmune haemolytic
anaemia.
– Red cell morphology: eg haemolytic uraemic
syndrome, thrombotic thrombocytopenic
purpura.
43. Management
• General measures
• Administer folic acid because active hemolysis
may cause folate deficiency.
• Discontinue medications that may have
precipitated or aggravated hemolysis.
• Transfusion therapy
• Avoid transfusions unless absolutely necessary,
but they may be essential.
• In autoimmune hemolytic anaemia, type-
matching and cross-matching may be difficult.
44. Contd…
• Use the least incompatible blood if
transfusions are indicated. The risk of acute
haemolysis of transfused blood is high, but
the degree depends on the rate of infusion.
Contd…
45. • Iron therapy
• This is indicated for patients with severe
intravascular haemolysis in which persistent
haemoglobinuria has caused substantial iron
loss.
NB: iron stores increase in haemolysis and so
iron administration is generally contra-
indicated in haemolytic disorders, particularly
those that require chronic transfusion support.
46. Autoimmune hemolytic anaemia therapy
• Corticosteroids for the warm type. Other
immunosuppressive drugs, eg azathioprine and
cyclophosphamide, (if steroids fail.)
• Rituximab - a monoclonal antibody against
CD20 –for refractory idiopathic autoimmune
haemolytic anaemia in children.
• The anaemia in cold type is usually mild and
there is no need for correction. Management
includes keeping extremities warm. Steroids
and splenectomy are less successful and
transfusions should be avoided if possible
47. • Splenectomy
• This may be the first choice of treatment in
some types of haemolytic anaemia such as
hereditary spherocytosis. In other cases it is
recommended when other measures have
failed.
• Splenectomy is usually not recommended in
haemolytic disorders such as cold agglutinin
haemolytic anaemia.
48. Complications
• Anaemia may lead to high-output
cardiac failure.
• Jaundice creates problems associated
with increased unconjugated bilirubin.
• In patients with intravascular
haemolysis, iron deficiency due to
chronic haemoglobinuria can
exacerbate anaemia and weakness.
50. Definition
• Aplastic anemia is a syndrome of bone
marrow failure characterized by peripheral
pancytopenia and marrow hypoplasia.
Although the anemia is often normocytic,
mild macrocytosis can also be observed in
association with stress erythropoiesis and
elevated fetal hemoglobin levels.
51. Incidence
• The annual incidence is about two cases per
million population.
• 2-3 times more common in Asia than in the
West.
• Acquired aplastic anaemia most common in 15
to 25 years but there is a second smaller peak
in incidence after age 60 years.
• Certain histocompatibility locus specificities,
especially HLA DR2, are associated with an
underlying predisposition to acquired aplastic
anaemia.
52. Causes and risk factors
• Most cases are acquired and immune-
mediated but there are also inherited
forms. Environmental triggers include
drugs, viruses and toxins.
• Congenital or inherited - eg, Fanconi's
anaemia,Diamond-Blackfan syndrome:
congenital aplastic anaemia is very rare,
the most common type being Fanconi's
anaemia (inherited as an autosomal
recessive disorder).
53. Acquired:
– Idiopathic.
– Infection: 5-10% of severe acquired cases
are preceded by seronegative hepatitis.
– Ebstein-Barr virus, HIV, parvovirus and
mycobacteria.
– Toxic exposure: radiation, chemicals (eg,
benzene).
55. – Transfusional graft-versus-host
disease.
– Pregnancy.
– Sickle cell anaemia: aplastic crisis
associated with parvovirus infection.
– Genetic factors influencing the
capacity for bone marrow to
regenerate have been identified
56. Clinical features
• Lower than normal numbers of red
blood cells, white blood cells, and
platelets cause most of the signs and
symptoms of aplastic anemia.
57. Signs and Symptoms of Low
Blood Cell Counts
• Red Blood Cells
• Fatigue :A lack of hemoglobin in the blood
causes fatigue. Hemoglobin is an iron-rich
protein in red blood cells. It helps carry oxygen
to the body.
• Shortness of breath: A low red blood cell count
also can cause shortness of breath; dizziness,
especially when standing up; headaches;
coldness in the hands or feet; pale skin; and
chest pain.
58. • Arrhythmias (irregular heartbeats),
a heart murmur, an enlarged heart, or
even heart failure: If you don't have
enough hemoglobin-carrying red blood
cells, your heart has to work harder to
move the reduced amount of oxygen in
your blood. This can lead to
arrhythmias (irregular heartbeats),
a heart murmur, an enlarged heart, or
even heart failure.
59. • White Blood Cells
• White blood cells help fight infections.
• Signs and symptoms of a low white blood cell
count include fevers, frequent infections that
can be severe, and flu-like illnesses that linger.
• Platelets
• Bruise and bleed easily
• Common types of bleeding include nosebleeds,
bleeding gums, pinpoint red spots on the skin,
and blood in the stool. Women also may have
heavy menstrual bleeding.
60. Other Signs and Symptoms
• Paroxysmal Nocturnal Hemoglobinuria
• Mostly asymptomatic, if symptoms do occur,
they may include:
• Shortness of breath
• Swelling or pain in the abdomen or swelling in
the legs caused by blood clots
• Blood in the urine
• Headaches
• Jaundice (a yellowish color of the skin or
whites of the eyes)
61. Investigations
• CBC, reticulocyte count, blood film.
• HbF estimation in children.
• Bone marrow aspirate and trephine biopsy,
including cytogenetics.
• Vitamin B12 and folate.
• LFTs.
• Viral studies: hepatitis A, B and C, Epstein-
Barr virus, cytomegalovirus (CMV).
• Antinuclear antibody and anti-dsDNA.
• CXR: to exclude infection.
62. • Abdominal ultrasound scan: an
enlarged spleen and/or enlarged
lymph nodes raise the possibility of a
malignant haematological disorder as
the cause of the pancytopenia. In
younger patients, abnormal or
anatomically displaced kidneys are
features of Fanconi's anaemia
63. Treatment
• Treatments for aplastic anemia include blood
transfusions, blood and marrow stem cell
transplants, and medicines. These treatments
can prevent or limit complications, relieve
symptoms, and improve quality of life.
• Blood and marrow stem cell transplants may
cure the disorder in some people who are
eligible for a transplant. Removing a known
cause of aplastic anemia, such as exposure to
a toxin, also may cure the condition.
64. • Blood transfusions
• Transfusions of red blood cells and platelets
can help reverse anemia and bleeding
problems. Transfusing blood is the process of
giving whole blood or only red blood cells from
a donor to a patient using an intravenous (IV)
line.
• Antibiotics
• Antibiotics can help fight infections that the
white blood cells cannot defeat.
65. • Immunosupression medicines
• Medicines that suppress the immune system
may help the bone marrow make blood cells
again.
• Growth factors
• Substances called growth factors can boost the
number of blood cells that the marrow make.
We can give these as a shot under the skin.
66. • Hematopoietic cell transplant, or stem cell
transplant
• A hematopoietic cell transplant (also called a
bone marrow transplant or stem cell transplant)
may cure aplastic anemia in some people. This
treatment for aplastic anemia works best in
children and young adults with a sibling who is
a match and can donate bone marrow for the
transplant.
67. • Limited activity
• Doctor may also advise you to limit some of
what the child does. For example, the child
may need to limit contact with other people,
even healthy people, to keep from catching an
infection.
• The doctor may also want the child to avoid
activities with a high risk of injury, such as
sports, because this may trigger bleeding that's
hard to stop.
68. Complications
• The major causes of morbidity and
mortality -- infection and bleeding.
• Complications of bone marrow
transplantation - eg, graft-versus-host
disease, graft failure.
• Paroxysmal nocturnal haemoglobinuria
and myelodysplastic syndrome
70. Definition
• Iron deficiency anaemia is a
condition where a lack of iron in
the body leads to a reduction in the
number of red blood cells.
71. Causes
• Lack of iron rich food
• Cannot absorb iron well in the
body. This problem may occurs
along with celiac disease or
undergone surgeries to remove
intestine.
• Hook worm infection
72. Clinical features
• Common symptoms are due to the reduced
amount of oxygen in the body.
• These include tiredness, lethargy, feeling faint
and becoming breathless easily.
• Less common symptoms include :
• headaches, irregular heart beats (palpitations),
altered taste, sore mouth and ringing in the
ears (tinnitus).
73. Contd…
• Looks pale.
• dizziness
• strange cravings for non-food items, such as
dirt, ice, and clay
• tingling or a crawling feeling in the legs
• swelling or soreness in the tongue
• cold hands and feet
• Blue-tinged or very pale whites of eyes
• Brittle nails
• Pale skin color
74. Diagnostic studies
• Complete Blood Cell (CBC) Test
• A CBC test measures the amount of all
components in the blood, including:
• RBCs
• white blood cells (WBCs)
• hemoglobin
• hematocrit
• platelets
75. • The CBC test provides information about blood
that is helpful in diagnosing iron-deficiency
anemia. This information includes:
• hematocrit levels (percent of blood volume that
is made up by RBCs)
• hemoglobin levels
• size of your RBCs
• In iron-deficiency anemia, hematocrit and
hemoglobin levels are low. RBCs are usually
smaller in size than normal.
76. Other Tests
• RBC size and color (RBCs are pale in color if
they are deficient in iron)
• ferritin levels (this protein helps with iron
storage in the body. Low levels indicate low iron
storage)
• iron level in the blood
• total iron-binding capacity: a test to determine
the amount of a protein, named transferrin, that
is carrying iron.
77. Management
• Iron Therapy
• ferrous sulfate is the one most commonly used.
• Parenteral iron therapy
• Reserve parenteral iron for patients who are
either unable to absorb oral iron or who have
increasing anemia despite adequate doses of
oral iron. It is expensive and has greater
morbidity than oral preparations of iron.
Parenteral iron has been used safely and
effectively in patients with inflammatory bowel
disease
79. Definition
• Sickle cell anemia is the most common form of
sickle cell disease (SCD). SCD is a serious
disorder in which the body makes sickle-shaped
red blood cells. “Sickle-shaped” means that the
red blood cells are shaped like a crescent. They
don't last as long as normal, round red blood
cells. This leads to anemia. The sickle cells also
get stuck in blood vessels, blocking blood flow.
This can cause pain and organ damage.
80. • Sickle cells contain abnormal
hemoglobin called sickle hemoglobin or
hemoglobin S. Sickle hemoglobin
causes the cells to develop a sickle, or
crescent, shape.
• Sickle cells are stiff and sticky. They
tend to block blood flow in the blood
vessels of the limbs and organs.
Blocked blood flow can cause pain and
organ damage. It can also raise the risk
for infection.
81. Incidence
• Sickle cell anemia is the most common
inherited blood disorder in the United States
• More than 70,000 people in the United States
have sickle cell disease
• Sickle cell disease occurs in 1 in every 500
African Americans
• About 8% of African Americans are carriers of
sickle cell disease
• Two million people have sickle cell trait
• Approximately 1 in 12 African Americans has
sickle cell trait
82. Causes
• Genetic abnormality
• Sickle cell disease is caused by a genetic
abnormality in the gene for hemoglobin, which
results in the production of sickle hemoglobin.
When oxygen is released from sickle
hemoglobin, it sticks together and forms long
rods, which damage and change the shape of
the red blood cell. The sickle red blood cells
causes the symptoms of sickle cell disease.
83. • Inheritance
• Sickle cell anemia is an inherited disease.
People who have the disease inherit two genes
for sickle hemoglobin—one from each parent.
• Sickle Cell Trait
• People who inherit a sickle hemoglobin gene
from one parent and a normal gene from the
other parent have sickle cell trait. Their bodies
make both sickle hemoglobin and normal
hemoglobin.
84. Risk factors
• Sickle cell anemia is most common in
people whose families come from Africa,
South or Central America (especially
Panama), Caribbean islands,
Mediterranean countries (such as
Turkey, Greece, and Italy), India, and
Saudi Arabia.
85. Signs and symptoms
• Signs and Symptoms Related to Anemia
• The most common symptom of anemia is
fatigue.
• Other signs and symptoms of anemia include:
Shortness of breath
Dizziness
Headaches
Coldness in the hands and feet
Paler than normal skin or mucous membranes
Jaundice
86. Signs and Symptoms Related to Pain
• Sudden pain throughout the body . This pain is
called a sickle cell crisis. Sickle cell crises often
affect the bones, lungs, abdomen, and joints.
• These crises occur when sickled red blood cells
block blood flow to the limbs and organs. This
can cause pain and organ damage.
• The pain from sickle cell anemia can be acute
or chronic, but acute pain is more common.
Acute pain is sudden and can range from mild
to very severe. The pain usually lasts from
hours to as long as a week or more.
87. • Many people who have sickle cell anemia
also have chronic pain, especially in their
bones. Chronic pain often lasts for weeks or
months and can be hard to bear and
mentally draining. Chronic pain may limit
your daily activities.
88. Diagnostic measures
• Microscopy
• Sickle-shaped red blood cells can be seen
when a blood sample is examined under a
microscope.
• Electrophoresis
• Sickle cell disease is diagnosed by a blood test
called hemoglobin electrophoresis, which
measures the amount of the abnormal sickle
hemoglobin. The amount of sickle hemoglobin
determines whether the person is a carrier
(sickle cell trait) or has sickle cell disease.
89. • Rapid screening tests
• There are also rapid screening tests that detect
the formation of sickle red blood cells or clumps
of abnormal sickle hemoglobin when oxygen is
removed from the blood. These tests are less
commonly used, because they cannot
distinguish between sickle cell trait and sickle
cell disease.
• Pre natal diagnosis: by examining the DNA of
fetal cells obtained by chorionic villus sampling
or amniocentesis.
90. Treatment
•
• The goal of treatment is to manage and
control symptoms, and to limit the number
of crises. People with sickle cell disease
need ongoing treatment, even when not
having a crisis.
• People with this condition should take
folic acid supplements. Folic acid helps
make new red blood cells.
91. • Treatment for a sickle cell crisis
includes:
• Blood transfusions (may also be given
regularly to prevent stroke)
• Pain medicines
• Plenty of fluids
92. • Other treatments for sickle cell anemia may
include:
• Hydroxyurea (Hydrea), which helps reduce the
number of pain episodes (including chest pain
and breathing problems) in some people
• Antibiotics, which help prevent bacterial
infections that are common in children with
sickle cell disease
• Medicines that reduce the amount of iron in
the body
93. • Treatments that may be needed to manage
complications of sickle cell anemia include:
• Dialysis or kidney transplant for kidney disease
• Counseling for psychological complications
• cholecystectomy in people with gallstone
disease
• Hip replacement for avascular necrosis of the
hip
• Surgery for eye problems
• Treatment for overuse or abuse of narcotic pain
medicines
94. • Bone marrow or stem cell transplants can cure
sickle cell anemia, but this treatment is not an
option for most people. Sickle cell anemia
patients often cannot find well-matched stem
cell donors.
• People with sickle cell disease should have the
following vaccinations to lower the risk of
infection:
• Haemophilus influenzae vaccine (Hib)
• Pneumococcal conjugate vaccine (PCV)
• Pneumococcal polysaccharide vaccine (PPV)
95. Complications of Sickle Cell Anemia
• Sickle cell crises can affect many parts of the
body and cause many complications.
• Hand-Foot Syndrome
• Sickle cells can block the small blood vessels in
the hands and feet in children (usually those
younger than 4 years of age). This condition is
called hand-foot syndrome. It can lead to pain,
swelling, and fever. Swelling often occurs on
the back of the hands and feet and moves into
the fingers and toes. One or both hands and/or
feet might be affected at the same time.
96. • Splenic Crisis
• The spleen is an organ in the abdomen.
Normally, it filters out abnormal red blood cells
and helps fight infections. Sometimes the
spleen may trap red blood cells that should be
in the bloodstream. This causes the spleen to
grow large and leads to anemia.
• If the spleen traps too many red blood cells, you
may need blood transfusions until your body
can make more cells and recover.
97. • Infections
• Both children and adults who have sickle cell
anemia may get infections. This is because
sickle cell anemia can damage the spleen, an
organ that helps fight infections.
• Infants and young children who have damaged
spleens are more likely to get serious infections
that can kill them within hours or days.
Bloodstream infections are the most common
cause of death in young children who have
sickle cell anemia.
98. • Acute Chest Syndrome
• Acute chest syndrome is a life-threatening
condition linked to sickle cell anemia. This
syndrome is similar to pneumonia. An
infection or sickle cells trapped in the lungs
can cause acute chest syndrome.
• People who have this condition often have
chest pain, shortness of breath, and fever.
They also often have low oxygen levels and
abnormal chest x ray results.
99. • Pulmonary Hypertension
• Damage to the small blood vessels in
the lungs makes it hard for the heart to
pump blood through the lungs. This
causes blood pressure in the lungs to
rise.
• Increased blood pressure in the lungs is
called pulmonary hypertension (PH).
Shortness of breath and fatigue are the
main symptoms of PH.
100. • Delayed Growth and Puberty in Children
• Children who have sickle cell anemia often
growth more slowly than other children.
• They may reach puberty later. A shortage of red
blood cells causes the slow growth rate. Adults
who have sickle cell anemia often are slender
or smaller in size than other adults.
101. • Stroke
• Two forms of stroke can occur in people who
have sickle cell anemia. One form occurs if a
blood vessel in the brain is damaged and
blocked. This type of stroke occurs more often
in children than adults. The other form of stroke
occurs if a blood vessel in the brain bursts.
• Either type of stroke can cause learning
problems and lasting brain damage, long-term
disability, paralysis (an inability to move), or
death.
102. • Eye Problems
• Sickle cells also can affect the small blood
vessels that deliver oxygen-rich blood to the
eyes. Sickle cells can block these vessels or
cause them to break open and bleed. This can
damage the retinas—thin layers of tissue at the
back of the eyes. The retinas take the images
you see and send them to the brain.
• This damage can cause serious problems,
including blindness.
103. • Priapism
• Males who have sickle cell anemia may
have painful, unwanted erections. This
condition is called priapism . It happens
because the sickle cells block blood
flow out of an erect penis. Over time,
priapism can damage the penis and
lead to impotence.
104. • Gallstones
• When red blood cells die, they release bilirubin.
Too much bilirubin in the body can cause
stones to form in the gallbladder, called
gallstones. Signs are:
• Steady pain that lasts for 30 minutes or more in
the upper right side of the belly, under the right
shoulder, or between the shoulder blades.
• People who have gallstones may have nausea ,
vomiting, fever, sweating, chills, clay-colored
stools, or jaundice.
105. • Ulcers on the Legs
• Sickle cell ulcers (sores) usually begin as small,
raised, crusted sores on the lower third of the
leg. Leg sores may occur more often in males
than in females. These sores usually develop in
people who are aged 10 years or older.
• The cause of sickle cell ulcers isn't clear. The
number of ulcers can vary from one to many.
Some heal quickly, but others persist for years
or come back after healing.
106. • Multiple Organ Failure
• Multiple organ failure is rare, but serious. It
happens if you have a sickle cell crisis that
causes two out of three major organs (lungs,
liver, or kidneys) to fail. Often, multiple organ
failure occurs during an unusually severe pain
crisis.
• Symptoms of this complication are fever, rapid
heartbeat, problems breathing, and changes in
mental status (such as sudden tiredness or
confusion).
108. Nursing Assessment
• Obtain history for possible dehydration,
hypoxia, infection, or other precipitating event.
• Obtain history and characterization of pain.
• Observe for pallor and jaundice, changes in
vital signs , change in mental status, swelling of
extremities, ulcers or skin lesions, or signs of
dehydration
• Examine for enlarged liver and spleen,
tenderness of hands or feet.
• Evaluate growth and development.
109. Nursing Diagnoses
• Acute Pain related to tissue anoxia from
disease process
• Ineffective Tissue Perfusion related to
increased blood viscosity
• Risk for Infection related to fibrotic changes in
the spleen
• Impaired Gas Exchange related to effects of
opioids, anesthesia, and blood loss of surgery
• Activity Intolerance related to anemia
• Interrupted Family Process related to
hospitalization, and chronic illness
112. • Haemophilia is a group
of hereditary genetic disorders that impair
the body's ability to control blood clotting
or coagulation, which is used to stop
bleeding when a blood vessel is
broken. Haemophilia A (clotting factor
VIII deficiency) is the most common form
of the disorder, present in about 1 in
5,000–10,000 male births. Haemophilia
B (factor IX deficiency) occurs in around 1
in about 20,000–34,000 male births.
113. Incidence
• Hemophilia A occurs in 1 in 5,000 live
male births. Hemophilia A is about four
times as common as hemophilia B. The
number of people with hemophilia in the
United States is estimated to be about
20,000 individuals. The worldwide
incidence of hemophilia is not well
known, but estimated at more than
400,000 people.
114. Causes
• Genetic mutation --Inherited hemophilia
• Hemophilia is caused by a mutation or
change, in one of the genes, that provides
instructions for making the clotting factor
proteins needed to form a blood clot. It is
caused by a fault in one of the genes that
determine how the body makes blood
clotting factor VIII or IX. These genes are
located on the X chromosome.
115. • Female (X + Xfaulty) is a carrier, but
does not have hemophilia. The “good”
X chromosome allows the production of
enough clotting factor to prevent
serious bleeding problems.
• Male (Y + Xfaulty) will develop
hemophilia and can pass it on.
116. • If the father has hemophilia and the mother has
no faulty gene (is not a carrier):
Father (Y + Xfaulty). Mother (X + X).
• There is no risk of inherited hemophilia in their
sons because boys will inherit their X
chromosome from the mother, not the father
(they inherit the father's Y chromosome only,
which does not have the faulty gene).
117. • All the daughters will be carriers but will
not develop hemophilia although they will
inherit the father's X chromosome, which
has the faulty gene. However, their
maternal X chromosome, which does not
have the faulty gene, usually allows the
production of enough clotting factor to
prevent serious bleeding problems.
118. • If the father does not have hemophilia and the
mother has a faulty gene:
Father (Y + X). Mother (X + Xfaulty).
• There is a 50% chance that sons will develop
hemophilia because:
– There is a 50% risk that a son will inherit his
mother's Xfaulty chromosome, plus his father's Y
chromosome - he will have hemophilia.
– There is a 50% chance he will inherit his mother's
"good" X chromosome, plus his father's Y
chromosome - he will not have hemophilia.
119. • There is a 50% chance that daughters will
be carriers, (but no chance of developing
hemophilia), because:
– There is a 50% chance she will inherit her
mother's Xfaulty chromosome, making her a
carrier.
• There is a 50% chance she will inherit her
mother's "good" X chromosome, which
would mean she would not be a carrier.
120. • Approximately one third of patients with
hemophilia have no family history of the
disease, either because of new genetic
mutations, or because previous affected
generations either had daughters (who were
carriers) or sons who died in early childhood
from hemophilia or any other cause or who
were not affected.
121.
122. • Very rarely, a girl is born with hemophilia.
This can happen if her father has
hemophilia and her mother is a carrier.
123. • Gene mutation – spontaneous mutation
• Approximately 30% of cases of
hemophilia are caused by a spontaneous
mutation of the gene. In these cases, the
mother is not a carrier of hemophilia and
the child affected is the first in the family
to have hemophilia and to carry the
defective factor gene.
124. Types of hemophilia
• Hempophilia A or classic hemophilia: A person
with this type of hemophilia has low levels of or
is completely missing factor VIII. 80% of
people with hemophilia have Type A
Hemophilia. Factor VIII deficiency usually
manifests in males.
• In about 30% of cases, there is no family history
of this bleeding disorder and it is just a
spontaneous genetic mutation. About 1 in 5,000
males born in the United States has hemophilia.
All economic groups and races are affected
equally.
125. • Hemophilia B: This person has low levels of or
is completely missing factor 9. 20% of people
with hemophilia have Type B Hemophilia.
Factor IX deficiency usually manifests in males.
• Hemophilia B was originally called "Christmas
Disease“ . About 30% of cases of Hemophilia B
are caused by spontaneous genetic mutation.
• Hemophilia B is much less common than
Hemophilia A. It occurs in about 1 in 25,000
male births, and affects about 3,300 individuals
in the United States.
126. • Hemophilia C: This person has low
levels of or is missing completely factor
11. Factor XI deficiency is different
because it can show up in both males
and females.
127. Three levels of Hemophilia severity
• Severe 0% - 1% factor level. About 80%
of hemophilia sufferers are considered
severe. Severe hemophilia sufferers will
have excessive bleeding after injuries,
surgery and can also have spontaneous
bleeding episodes. They can also have
joint bleeding and prolonged bleeding
into the muscles, sometime times
without the person's knowledge. Joint
bleeding can cause joint deterioration
and arthritis down the road.
128. • Moderate 1% - 5% factor level. About
10% of hemophilia sufferers are
considered moderate. Moderate
sufferers may have spontaneous
bleeding episodes and will probably
have prolonged bleeding after
injuries.
129. • Mild 5% - 50% factor level. About 10%
of hemophilia sufferers are considered
mild. These people have prolonged
bleeding after a serious injury, trauma
or surgery. In many cases, mild
hemophilia is not discovered until there
is excessive bleeding after a surgery or
injury. In fact, it may not even be
discovered until adulthood.
130. Signs and symptoms
• The major signs and symptoms of hemophilia
are excessive bleeding and easy bruising.
• Excessive Bleeding
• The extent of bleeding depends on how severe
the hemophilia is.
• Mild hemophilia may not have signs unless they
have excessive bleeding from a dental
procedure, an accident, or surgery
• Bleeding can occur on the body's surface
(external bleeding) or inside the body (internal
bleeding).
131. • Signs of external bleeding may
include:
• Bleeding in the mouth from a cut or
bite or from cutting or losing a tooth
• Nosebleeds for no obvious reason
• Heavy bleeding from a minor cut
• Bleeding from a cut that resumes after
stopping for a short time
132. • Signs of internal bleeding may include:
• Blood in the urine (from bleeding in the
kidneys or bladder)
• Blood in the stool (from bleeding in the
intestines or stomach)
• Large bruises (from bleeding into the large
muscles of the body)
133. Bleeding in the Joints
• Bleeding in the knees, elbows, or other joints is
another common form of internal bleeding in
people who have hemophilia.
• At first, the bleeding causes tightness in the
joint with no real pain or any visible signs of
bleeding. The joint then becomes swollen, hot
to touch, and painful to bend.
• Swelling continues as bleeding continues.
Eventually, movement in the joint is temporarily
lost. Pain can be severe. Joint bleeding that
isn't treated quickly can damage the joint.
134. Bleeding in the Brain
• Internal bleeding in the brain is a very serious
complication of hemophilia. The signs and
symptoms of bleeding in the brain include:
• Painful headaches,neck pain or stiffness
• Repeated vomiting
• Sleepiness or changes in behavior
• Sudden weakness or clumsiness of the arms or
legs or problems walking
• Double vision
• Convulsions or seizures
135. • Bleeding from the mouth or nosebleeds
• Bleeding after dental procedures is
common, and oozing of blood from the
gums may occur in young children when
new teeth are erupting.
136. Diagnostic measures
• Diagnosis includes screening tests and clotting
factor tests. This blood test shows the type of
hemophilia and the severity.
• Family history
• Any family history of bleeding, such as following
surgery or injury, or unexplained deaths among
brothers, sisters, or other male relatives such as
maternal uncles, grandfathers, or cousins
should be discussed with a doctor to see if
hemophilia was a cause.
137. • Screening Tests
• Screening tests are blood tests that show if the
blood is clotting properly. Types of screening
tests:
Complete Blood Count (CBC)
• This common test measures the amount of
hemoglobin, the size and number of red blood
cells and numbers of different types of white
blood cells and platelets found in blood. The
CBC is normal in people with hemophilia.
138. • Activated Partial Thromboplastin Time (APTT)
Test
• This test measures how long it takes for blood
to clot. It measures the clotting ability of factors
VIII (8), IX (9), XI (11), and XII (12). If any of
these clotting factors are too low, it takes longer
than normal for the blood to clot. The results of
this test will show a longer clotting time among
people with hemophilia A or B.
139. • Prothrombin Time (PT) Test
• This test also measures the time it takes for
blood to clot. It measures primarily the clotting
ability of factors I (1), II (2), V (5), VII (7), and X
(10). If any of these factors are too low, it takes
longer than normal for the blood to clot. The
results of this test will be normal among most
people with hemophilia A and B.
140. • Fibrinogen Test
• This test also helps doctors assess a patient’s
ability to form a blood clot. This test is ordered
either along with other blood clotting tests or
when a patient has an abnormal PT or APTT
test result, or both.
• Clotting Factor Tests
• Clotting factor tests, also called factor assays,
are required to diagnose a bleeding disorder.
This blood test shows the type of hemophilia
and the severity.
141. Fetal diagnosis
• Pregnant women who are known hemophilia
carriers can have the disorder diagnosed in
their unborn babies as early as 12 weeks into
their pregnancies.
• Women who are hemophilia carriers also can
have "preimplantation diagnosis" to have
children who don't have hemophilia.
• For this process, women have their eggs
removed and fertilized by sperm in a laboratory.
The embryos are then tested for hemophilia.
142. Treatment
• The preferred treatment for hemophilia is
factor replacement therapy. Hemophilia is
treated by injecting the missing factor
protein into the affected person’s vein.
The injection makes the factor
immediately available in the bloodstream
and the body is able to activate it to
continue the clotting cascade and stop
the bleeding.
143. Treatment with Replacement
Therapy
• The main treatment for hemophilia is called
replacement therapy. Concentrates of clotting
factor VIII (for hemophilia A) or clotting factor
IX (for hemophilia B) are slowly dripped or
injected into a vein. These infusions help
replace the clotting factor that's missing or
low.
144. • Clotting factor concentrates can be made
from human blood. The blood is treated to
prevent the spread of diseases, such as
hepatitis. With the current methods of
screening and treating donated blood, the
risk of getting an infectious disease from
human clotting factors is very small.
145. • Factor concentrates that aren't made from
human blood are also used for the
treatment to further reduce the risk. These
are called recombinant clotting factors.
Clotting factors are easy to store, mix, and
use at home—it only takes about 15
minutes to receive the factor.
146. • There may have replacement therapy on a
regular basis to prevent bleeding. This is called
preventive or prophylactic therapy. Or, may only
need replacement therapy to stop bleeding
when it occurs. This use of the treatment, on an
as-needed basis, is called demand therapy.
Demand therapy is less intensive and
expensive than preventive therapy. However,
there's a risk that bleeding will cause damage
before the patient receive the demand therapy.
147. Complications of
Replacement Therapy
• Complications of replacement therapy
include:
• Developing antibodies (proteins) that
attack the clotting factor
• Developing viral infections from human
clotting factors
• Damage to joints, muscles, or other
parts of the body resulting from delays in
treatment
148. Other Types of Treatment
• Desmopressin
• Desmopressin (DDAVP) is a man-made
hormone used to treat people who have mild
hemophilia A.
• DDAVP stimulates the release of stored factor
VIII and von Willebrand factor; it also increases
the level of these proteins in your blood. Von
Willebrand factor carries and binds factor VIII,
which can then stay in the bloodstream longer.
149. • DDAVP usually is given by injection or as
nasal spray. Because the effect of this
medicine wears off if it's used often, the
medicine is given only in certain situations.
For example, you may take this medicine
prior to dental work or before playing
certain sports to prevent or reduce
bleeding.
150. • Antifibrinolytic Medicines
• Antifibrinolytic medicines may be used with
replacement therapy. They're usually given as a
pill, and they help keep blood clots from
breaking down.
• These medicines most often are used before
dental work or to treat bleeding from the mouth
or nose or mild intestinal bleeding.
151. • Gene Therapy
• Researchers are trying to find ways to correct
the faulty genes that cause hemophilia. Gene
therapy hasn't yet developed to the point that
it's an accepted treatment for hemophilia.
However, researchers continue to test gene
therapy in clinical trials.
152. • Treatment of a Specific Bleeding Site
• Pain medicines, steroids, and physical
therapy may be used to reduce pain and
swelling in an affected joint.
• RICE (Rest, Ice, Compression, Elevation)
• RICE is a treatment many health care
professionals recommend for joint bleeds.
It also reduces swelling and tissue
damage when used together with clotting
factor concentrates.
153. Prevention
• Hemophilia cannot be cured, however, patients
who start prophylaxis early (by age 3) show a
better muscuoloskeletal outcome and fewer
joint bleeds.
• Avoid taking aspirin and NSAIDs.
• Get vaccinated with the hepatitis B vaccine.
• Administer factor VIII or IX on a regular basis, to
help prevent bleeding and joint damage.
• Avoid circumcising male infants of women
known to be carriers until the baby has been
tested for hemophilia.
155. Nursing Assessment
• Obtain history of and observe for unusual
bleeding”ecchymosis, prolonged bleeding from
mucous membranes and lacerations,
hematomas, hemarthroses, hematuria, rectal
and GI bleeding.
• Assess joints for swelling, warmth, tenderness,
range of motion (ROM), contractures, and
surrounding muscle atrophy.
• Assess family resources and coping skills.
156. Nursing Diagnoses
• Risk for Deficient Fluid Volume related to
hemorrhage
• Ineffective Protection related to inability of
blood to clot
• Impaired Physical Mobility related to
repeated hemarthroses
• Acute Pain related to bleeding into joints
and muscles
• Ineffective Family Coping related to
disabling and life-threatening disease