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

作者：Parab Sushama; Sakhare Suhas^*; Sengupta Caesar; Velumani Arokiaswamy

来源：Clinica Chimica Acta, 2015, 442: 33-35.

DOI：10.1016/j.cca.2014.12.037

• Hemoglobinopathies
• Hb S
• Hb Q India
• HPLC
• Capillary electrophoresis

Background: A novel double heterozygosity for the a chain variant Hb Q India and 13 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 4.55 min while it is eluted in Hb D zone on CE. A hybrid variant of these a and S 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.

• 出版日期2015-3-10