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 α and β chain Hb heterozygous mutant involving HbQ and IVS1-1 being validated using Mass Spectrometry and Reverse dot blot hybridization.
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References
Shackleton CHL, Falick AM, Green BN, Witkowska HE. Electrospray mass spectrometry in the clinical diagnosis of variant hemoglobins. J Chromatography B 1991; 562: 175–190.
Wada Y. Advanced analytical methods for hemoglobin variants. J Chromatography B 2002; 781: 291–301.
Wild BJ, Green BN, Cooper EK, Lalloz RA. Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry. Blood Cells Mol Dis 2001; 27: 691–704.
Vella F, Wells RHC, Ager JAM, Lehmann H. A hemoglobinopathy involving hemoglobin H and a new(Q) hemoglobin. Br Med J 1958; 1: 752–725.
Sukumaran PK, Merchant SM, Desai MP. Hemoglobin Q India (alpha 64 (E13) aspartic acid to histidine) associated with betathalassemia observed in three Sindhi families. J Med Genet 1972; 9: 436–442.
Desai DV, Dhanani H, Kapoor AK, Yeluri SV. HbQ-India in a Sindhi family: an unknown hemoglobin variant. Lab Hematol 2004; 10: 212–214.
Mandal AK, Bisht S, Balaram P, Bhat VS, Krishnaswamy PR. Electrospray mass spectrometric characterization of hemoglobin Q (HbQ-India) and a double mutant hemoglobin S/D in clinical samples. Clin Biochem 2008; 41: 75–81.
Ching - Nan Ou, Rognerud CL. Rapid Analysis of Hemoglobin Variants by Cation-Exchange HPLC. Clin Chem 1993; 39/5: 820–824.
Lorkin PA, Charlesworth D, Lehmann H, Rahbar S, Tuchinda S, Lie-Injo LE. Two hemoglobin Q, alpha-74(EF3) and alpha-75 (EF4) aspartic acid to histidine. Br J Hematolol 1970; 19: 117–125.
Newton CR, Graham A, Heplinstall LE. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acid Res 1989; 17: 2305–2316.
Desai D, Parmar C, Dhanani H, Patel R, Master D. A Rare case of Co-Existent HbQ India-Beta Thalassemia Trait. Int J Hematol 2007; 3: 1.
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Bhat, V.S., Dewan, K.K., Krishnaswamy, P.R. et al. Characterization of a hemoglobin variant: HbQ-India / IVS 1-1 [G>T]-β-thalassemia. Indian J Clin Biochem 25, 99–104 (2010). https://doi.org/10.1007/s12291-010-0020-3
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DOI: https://doi.org/10.1007/s12291-010-0020-3