Sickle Cell Disease: A Single Gene Mutation with Varied Presentations

Khobragade, Roopal; Khobragade, Balwant; Narwade, Pankaj

doi:10.22038/ijp.2024.59241.4623

Sickle Cell Disease: A Single Gene Mutation with Varied Presentations

Document Type : review article

Authors

Roopal Khobragade ¹

Balwant Khobragade ²

Pankaj Narwade ³

¹ Department of Pediatric, NKP salve medical college and Lata mangeshkar hospital, Nagpur ,Maharashtra, India

² DEPARTMENT OF PEDIATRIC, EX-PROFESSOR NKP SALVE MEDICAL COLLEGE, MUHS NASHIK UNIVERSITY ,MAHARASTRA INDIA

³ Assistant professor, Department of general surgery NKPSIMS & LMH Nagpur, Maharashtra, India

10.22038/ijp.2024.59241.4623

Abstract

Sickle cell disease is one of the commonest severe monogenic disorders seen worldwide. Hemoglobin S (Hb S) is the result of a single base-pair change, thymine for adenine, at the sixth codon of the β globin gene. This change encodes valine instead of glutamine in the sixth position in the β globin molecule. In the United States, sickle cell disease occurs in African Americans at a rate of 1: 396 births and in Hispanics at a rate of 1: 36,000 births. In the UK, the prevalence is 1:2000 live births. In India SCD gene frequency varies from 2 to 14 % of at risk population and is as common as thalassemia, but less highlighted, due to the predominantly underprivileged, tribal population of Central India (Vidharbha, Marathwada, M.P., AP, West-Odisha., Chhattisgarh and Gujrat).

Keywords

Homozygous HbSS

Beta globin gene

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