5. Epidemiology
– Common in Mediterranean countries
– Incidence
– UK 1:10,000
– Cyprus 1: 7
– Pakistan (no definite data available: estimated 5000 – 9000 babies born with
thalassemia per year with carrier rate 5 – 7 % in general population)
6. Genetics
– Autosomal recessive pattern of inheritance
– α chain
– 2 pairs of genes (Total 4; 1 pair from each parent)
– Chromosome 16
– β chain
– 2 genes (1 from each parent)
– Chromosome 11
9. α thalassemia
– α thalassemia trait
– No/mild anemia in pregnancy
– No abnormal Hb found
– Not detected by Hb electrophoresis
– HbH disease
– Chronic hemolytic anemia
– Moderate anemia (Hypochromia, marked microcytosis)
– 5-30 % HbH Hb in peripheral blood (detected by Hb electrophoresis)
– HbH inclusion bodies in red cells (golf ball cells –supravital staining)
– Can transmit as α thalassemia trait in children
10. α thalassemia
– α thalassemia major
– No α chain
– No HbA, HbA2 and HbF
– Accumulation of Fetal ϒ4 ( Hb barts*)
– Severe anemia failure of O2 delivery to tissue Cardiac failure & abnormal
organogenesis Hydrops fetalis + Polyhydroamnios + Placentomegaly
– Serious Obstetric complications (Pre-eclampsia, difficult delivery due to large fetus
and placenta)
*This variant of hemoglobin is so called as it was discovered at St. Bartholomew's Hospital in London, also called St. Barts.
12. β thalassemia
– Caused by defective β gene.
– Severity of disease depend upon nature of mutation and presence of mutation
in 1 or both alleles
– 2 types of mutation
– Β+ reduced function
– Βo absent function
β thalassemia major = Mediterranean anemia or
Cooley anemia
Thomas Benton Cooley
(1871 – 1945)
American pediatrician
and hematologist
18. β thalassemia
PERIPHERAL SMEAR
Target cells red cells with central staining with
precipitated haemoglobin
Basophilic Stripping
(Punctate Basophilia)
accumulation of ribosomes in
periphery of red cell
Howell Jolly Bodies basophilic nuclear remnants (clusters
of DNA) in circulating erythrocytes.
William Henry
Howell
(1860- 1945)
American
Physiologists
Justin Marie Jolly
(1870 – 1953)
French hematologist
and histologist
29. Management – outside
pregnancy
– Blood transfusion
– Iron chelating therapy
– Folic acid supplements
– Bone marrow stem cell transplant
– Possible future options
– Gene therapy
– Trigger to stimulate HbF production (hydrocyurea)
30.
31. RCOG 2014 Green-top
guidelines
– Preconception care
– Antenatal care
– Intrapartum care
– Postpartum care
– Booking appointments
– Schedule of antenatal appointments