A novel double heterozygous, HbD Punjab/HbQ India, hemoglobinopathy

Hemoglobinopathies and thalassemias together form the most common genetic disease in the world. Double heterozygosity, in which there is a hemoglobin variant, in both the α- and non-α globin chains, is very unusual. A novel double heterozygosity of the α chain variant HbQ India with the non-α chain HbD Punjab is described.

The index case is a 39 year old female of Indian origin. HPLC analysis using the Bio Rad β thalassemia method and electrophoresis at both alkaline and acid pH were performed.

HPLC shows four major bands and electrophoresis at alkaline pH shows 3 bands and 2 bands at acid pH.

Both the HPLC and electrophoresis at alkaline and acid pH are consistent for the double heterozygous hemoglobin variants HbQ India and HbD Punjab.

This is the first literature report of the double heterozygosity of HbQ India/HbD Punjab.