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Diagnosis of a novel hemoglobinopathy of compound heterozygosity of hemoglobin S/hemoglobin Q India



Diagnosis of a novel hemoglobinopathy of compound heterozygosity of hemoglobin S/hemoglobin Q India



Clinica Chimica Acta; International Journal of Clinical Chemistry 442: 33-35



A novel double heterozygosity for the α chain variant Hb Q India and β chain variant Hb S is described. Hb S is prevalent in the central part of India while Hb Q India in its heterozygous state is found mainly in Sindhi families. Identification of both the variants, Hb S and Hb Q India, was done based on chromatograms of HPLC and capillary zone electrophoresis (CE). Confirmation of variants was done by PCR based amplification refractory mutation system (ARMS) technique. Both HPLC and CE confirmed the presence of Hb S. HPLC showed a pointed narrow peak of Hb Q India at retention time of 4.55min while it is eluted in Hb D zone on CE. A hybrid variant of these α and β globin chains was eluted in Hb C window and Hb C zone on HPLC and CE respectively. Molecular studies using ARMS technique confirmed these findings. Both the cases showed positive sickling test and presented with mild anemia. This is a unique 2 index cases for compound heterozygosity of Hb S with Hb Q India.

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Accession: 057610300

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PMID: 25576799

DOI: 10.1016/j.cca.2014.12.037


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