Coexistence of rare variant HbD Punjab [α2β2(121(Glu→Gln))] and alpha 3.7 kb deletion in a young boy of Hindu family in West Bengal, India.

Abstract excerpt

HbD Punjab is a variant of hemoglobin which occurs as a result of mutation in codon 121 (GAA>CAA) of the β-globin gene, which replaces glutamic acid with glutamine (Glu→Gln). The heterozygous state of HbD does not produce any clinical or hematological symptoms, although its association with HbS and thalassemia produces clinically significant but less severe conditions. The homozygous state produces mild hemolytic...

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