SICKLE CELL DISEASE IN HAZARA

Shaheen Pervez Khan, Jahangir A. Khan, M.A. Khaliq

Abstract


Sickle cell disease is group of inherited disorders of haemoglobin formation. It includes sickle
cell 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 American
blacks while Sickle Cell B-Thal is 0.04%.1
Sickle Cell B-Thalassaemia is double heterozygous state for Hb-S and the B-Thalassaemia is
double heterozygous state for Hb-S and the B-Thalassaemia genes. It occurs mainly in persons of
Greek, Italian descent and in Negroes.2 In general it resembles sickle-cell anaemia, but tends to be
less severe. There are two types of sickle cell B-Thalassaemia, one is B+ thalassaemia which is
characterized by incomplete suppression and B°-thalassaemia by complete absence of B-chain
synthesis.
It is some time difficult to distinguish between sickle-cell anaemia and S/B° thalassaemia. The
pattern of the B° type closely resembles that of sickle-cell anaemia and the electrophoretic
differential diagnosis usually depends on the demonstration of an increased Hb-A2 level3 in the
former condition. Examination of other family members for evidence of the thalassaemia gene
should be undertaken in all putative cases of sickle cell anaemia to avoid diagnostic error. The
finding of an enlarged spleen in an older patient may be useful in differential diagnosis because
splenomegaly is much more likely to be encountered in patients (.6 years) with S/B° thalassaemia
than in homozygous sicklers. Hypochromia and microcytosis of erythrocytes is usually established
by 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 or
pulmonary infraction or both), and fever.4 A case report of sickle-cell B°- thalassaemia is presented
here. The patient was admitted in the DHQ Hospital, Abbottabad.

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References


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