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.
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.