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

Abstract

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.

• Authors: Trefor Higgins, Kareena Schnabl, Margo Savoy, Pamela Rowe, Marco Flamini, Sunil Bananda
• Journal: Clinical biochemistry (Clin Biochem) Vol. 45 Issue 3 Pg. 264-6 (Feb 2012) ISSN: 1873-2933 [Electronic] United States
• PMID: 22178109 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Q
• hemoglobin Q India
• hemoglobin D Punjab

Topics

• Chromatography, High Pressure Liquid
• Electrophoresis
• Female
• Hemoglobinopathies (genetics)
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Humans
• Hydrogen-Ion Concentration
• India