Question 1
What is the likely diagnosis?

 β-Thalassemia
 Sickle-cell anaemia
 Hereditary spherocytosis
 G6PD deficiency
 Pyruvate kinase deficiency

Answer
Hereditary spherocytosis is an autosomal dominant type of inheritance so a positive family history should be suspected.  But in its mild form it is discovered incidentally during investigation for anaemia. The data presented above goes well with hereditary spherocytosis, Normal Hb electrophoresis with spherocytes in the blood film and reticulocytosis which indicates current hemolysis.

It isn’t thalassemia major because there is no HbF in the electrophoresis as well as normal HbA2 which excludes Thalassemia minor and the presenting history and clinical examination revealed neither chronic anaemic process nor repeated blood transfusion as well as no associated hepatomegaly, a common presentation for thalassemia.

Haemolytic anaemia due to enzymopathy is usually an autosomal recessive disease with positive family history and consanguineous marriage is the usual mating. The patient has recurrent episodes of haemolytic crises with hemoglobinuria and in case of G6PD deficiency there is a history of exposure to oxidant material like Fava bean, and certain drugs.


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