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

Introduction: 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.

Methods And Materials: 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.

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

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

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