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  • Title: Diagnosis of a novel hemoglobinopathy of compound heterozygosity of hemoglobin S/hemoglobin Q India.
    Author: Parab S, Sakhare S, Sengupta C, Velumani A.
    Journal: Clin Chim Acta; 2015 Mar 10; 442():33-5. PubMed ID: 25576799.
    Abstract:
    BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: This is a unique 2 index cases for compound heterozygosity of Hb S with Hb Q India.
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