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Molecular Screening of Hemoglobin S Variant in Anemia Patients of Eastern UP Population

Rai, V.; Yadav, U.; Kumar, P.

2019-11-04 molecular biology
10.1101/830117 bioRxiv
Show abstract

Hemoglobinopathies are the most common type of inherited disease in human. in India the most frequent and clinically significant hemoglobin structural variants are HbS, HbD and HbE. The HbS mutation, in which a glutamic acid at position 6 in the {beta} chain is substituted for valine Sickle cell disease is a major health problem in some parts of India. 2 ml blood sample was collected from 350 anemia patient and PCR-RFLP method was used for hemoglobin S analysis. Out of 350 samples, in four individuals, HbS mutation was found in homozygous ({beta} 6/{beta} 6) condition. All four individuals are Sickle cell cases. In conclusion, the percentage of Sickle cell disease was observed as 1.14% in Eastern UP anemic patients.

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