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Question

What are the clinical manifestation of Thalassemia?

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Solution

Thalassemia is a group of blood disorders which are caused by abnormal synthesis of haemoglobin that results from mutations in the HbB and HbA genes present on chromosome 11 and chromosome 16 respectively. The symptoms of thalassemia are
(i) decrease in the activity of the bone marrow,
(ii) peripheral haemolysis is observed and
(iii) Splenomegaly (enlarged spleen) and hepatomegaly (enlarged liver).

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