SICKLE CELL DISEASE IN HAZARA

Abstract

Sickle cell disease is group of inherited disorders of haemoglobin formation. It includes sicklecell anaemia (Hb SS), Haemoglobin SC disease (HbSC) and Sickle Cell B-Thalassaemia (HbS/BThal). Sickle Cell anaemia (HbSS) is most common and severe which is 0.3% to 1.3% in Americanblacks while Sickle Cell B-Thal is 0.04%.1Sickle Cell B-Thalassaemia is double heterozygous state for Hb-S and the B-Thalassaemia isdouble heterozygous state for Hb-S and the B-Thalassaemia genes. It occurs mainly in persons ofGreek, Italian descent and in Negroes.2 In general it resembles sickle-cell anaemia, but tends to beless severe. There are two types of sickle cell B-Thalassaemia, one is B+ thalassaemia which ischaracterized by incomplete suppression and B°-thalassaemia by complete absence of B-chainsynthesis.It is some time difficult to distinguish between sickle-cell anaemia and S/B° thalassaemia. Thepattern of the B° type closely resembles that of sickle-cell anaemia and the electrophoreticdifferential diagnosis usually depends on the demonstration of an increased Hb-A2 level3 in theformer condition. Examination of other family members for evidence of the thalassaemia geneshould be undertaken in all putative cases of sickle cell anaemia to avoid diagnostic error. Thefinding of an enlarged spleen in an older patient may be useful in differential diagnosis becausesplenomegaly is much more likely to be encountered in patients (.6 years) with S/B° thalassaemiathan in homozygous sicklers. Hypochromia and microcytosis of erythrocytes is usually establishedby the age of one year. S/B° thalassaemia tends to be more severe than S/B+ thalassaemia. S/B°resembles more, clinically, with sickle-cell anaemia as in ocular and bony manifestations, pain,accelerated haemolysis and vasooclusion, long term anaemia, acute chest syndrome (Pneumonia orpulmonary infraction or both), and fever.4 A case report of sickle-cell B°- thalassaemia is presentedhere. The patient was admitted in the DHQ Hospital, Abbottabad.