Characterization of a hemoglobin variant: HbQ-India / IVS 1-1 [G>T]-beta-thalassemia

Authors : Bhat VS, Dewan KK, Krishnaswamy PR, Mandal AK, Balaram P

Publication Year : 2010

Abstract :

Hemoglobin Q- India (alpha) 64 Asp ? His is an alpha chain variant which is generally found in heterozygous state and presents normal hematological blood picture. Here we report a rare case of HbQ-India with a thalassemic phenotype that has been analyzed using a combination of mass spectrometry, gene sequencing and PCR analysis. This combined analyses revealed the HbQ variant to be associated with a beta chain mutation, IVS 1-1 [G>T]. Though HbQ has earlier been reported with thalassemic trait using different techniques, this is the first report of a compound à and ß chain Hb heterozygous mutant involving HbQ and IVS1-1 being validated using Mass Spectrometry and Reverse dot blot hybridization.

http://www.ncbi.nlm.nih.gov/pubmed/23105893/