sickle cell anemia

1. Prepared by:
Adil khan.
SICKLE CELL ANEMIA

2. SICKLE CELL ANEMIA:
 Sickle cell anemia is a disease in which the body makes sickle-shaped red
blood cells
 Normal red blood cells are disc-shaped .They move easily through blood
vessels.
 Red blood cells contain an iron-rich protein called hemoglobin. This protein
carries oxygen from the lungs to the rest of the body
 Sickle cells contain abnormal hemoglobin called sickle hemoglobin or
hemoglobin S. Sickle hemoglobin causes the cells to develop a sickle shape.

3.  Sickle cells are stiff and sticky.
 They tend to block blood flow in the blood vessels of the limbs and
other organs. Blocked blood flow can cause pain and organ
damage

4. TYPES
• There are the following types.
• Sickle cell trait (HbAS)
• A person has an HbS gene and normal hemoglobin A gene (HbA).
• Under normal circumstances, these person have no symptoms of sickle cell
disease
• Such children have no symptoms of sickle cell disease.
• Sickle cell anemia (HbSS)
• Person having two HbS genes, one inherited from each parent
• variety of symptoms and complications of sickle cell disease occur

5. SICKLE CELL TRAIT AND SICKLE CELL DISEASE

6. CAUSE
 Red blood cells contain hemoglobin
 Haemoglobin consist of two alpha and two beta chains
 In beta chain a single nucleotide is change, from GAG TO GTG.
 GAG codon code glutamic acid and GTG code valine. So here the whole
protein structure is change and this type of mutation is called miss sense
mutation.
 So miss sense mutation is responsible for sickle cell anemia.

7. EPIDEMIOLOGY
 The highest frequency of sickle cell disease is found in tropical
regions, particularly Africa, India and the Middle-East.
 total of 150,000 affected children born every year in Nigeria alone.
 About 70,000 people in the United States have sickle cell disease
 In Saudi Arabia about 4.2% of the population carry the sickle-cell trait and
0.26% have sickle cell disease
 Sickle Cell Disease (SCD) affects 90,000 Americans

8. DIAGNOSES
• Diagnosis of sickle cell disease and sickle cell trait can be done through
blood testing.
• A special technique is also used called hemoglobin electrophoresis
• Hemoglobin Electrophoresis: A small blood sample is taken and sent to a
laboratory where the percentage of normal and abnormal hemoglobin is
measured.

9. SIGNS AND SYMPTOMS
• The most common symptom of anemia is fatigue (feeling tired or weak). Other
signs and symptoms of anemia include:
• Shortness of breath
• Headaches
• Coldness in the hands and feet
• Jaundice (a yellowish color of the skin or whites of the eyes)
• Hand –foot syndrome due to the blockage of blood vessels in the hands and
feet.
• Organs like spleen and liver also damages.

10. TREATMENT
• Treatment of sickle cell anemia includes:
• pain medications (for example, morphine).
• Anti-inflammatory medications (for example, ibuprofen).
• Antibiotics for infection.
• Intravenous or oral fluids.
• Transfusions of red blood cells are given for anemia.
• Stem cell transplant is performed in young patients with severe sickle cell
disease.

11. Thanks…….