Diagnosis of a rare double heterozygous Hb D Punjab/Hb Q India hemoglobinopathy using Sebia capillary zone electrophoresis.
Loading...
Date
2014-10
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
In India, hemoglobinopathies constitute a major genetic disorder and hemoglobin
variants such as Hb S, Hb D Punjab, and Hb E are the most common ones.
Other variants include Hb Q India, Hb Lepore, Hb J Meerut, Hb D Iran,
etc. These variants show heterozygous state along with beta thalassemia.
However, compound heterozygosities among these variants are very rare.
Ethylenediaminetetraacetic acid whole blood sample received for routine
thalassemia screening was subjected to alkaline electrophoresis using automated
capillary zone electrophoresis. Suspecting the presence of rare variants, further
analysis was carried out using Bio-Rad D10 and Tosoh G8 high-performance
liquid chromatography (HPLC) systems. Capillary zone electrophoretograms
showed the presence of peaks in zone Hb A, Hb D, a fused peak in Hb A2, and
a small peak in Z1 zone. Bio-Rad and Tosoh chromatograms also indicated the
presence of four peaks which are identifi ed as Hb A, Hb D Punjab, Hb Q India,
and hybrid of Hb D Punjab/Hb Q India. A peak in Hb D zone of capillary was
due to co-migration of Hb D Punjab and Hb Q India variants. Small peak in Z1
zone indicated the presence of alpha chain variant Hb Q India. The fi ndings were
further confi rmed by HPLC results and molecular genetic studies. The present
study reports for the 1st time a rare hemoglobinopathy of double heterozygosity
for Hb D Punjab, Hb Q India on Capillarys 2 Flex Piercing analyzer and is forth
reported case for this rare hemoglobinopathy.
Description
Keywords
Capillary electrophoresis, Hb D Punjab, Hb Q India, hemoglobinopathies, high-performance liquid chromatography
Citation
Parab Sushama, Sakhare Suhas, Sengupta Caesar, Velumani Arokiaswamy. Diagnosis of a rare double heterozygous Hb D Punjab/Hb Q India hemoglobinopathy using Sebia capillary zone electrophoresis. Indian Journal of Pathology & Microbiology. 2014 Oct-Dec 57 (4): 626-628.