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Khobragade, Roopal, Khobragade, Balwant, Narwade, Pankaj. (1403). Sickle Cell Disease: A Single Gene Mutation with Varied Presentations. , 12(5), 18832-18840. doi: 10.22038/ijp.2024.59241.4623
Roopal Khobragade; Balwant Khobragade; Pankaj Narwade. "Sickle Cell Disease: A Single Gene Mutation with Varied Presentations". , 12, 5, 1403, 18832-18840. doi: 10.22038/ijp.2024.59241.4623
Khobragade, Roopal, Khobragade, Balwant, Narwade, Pankaj. (1403). 'Sickle Cell Disease: A Single Gene Mutation with Varied Presentations', , 12(5), pp. 18832-18840. doi: 10.22038/ijp.2024.59241.4623
Khobragade, Roopal, Khobragade, Balwant, Narwade, Pankaj. Sickle Cell Disease: A Single Gene Mutation with Varied Presentations. , 1403; 12(5): 18832-18840. doi: 10.22038/ijp.2024.59241.4623

Sickle Cell Disease: A Single Gene Mutation with Varied Presentations

Journal of Pediatric Perspectives
دوره 12، شماره 5، مرداد 2024، صفحه 18832-18840    اصل مقاله (279.9 K)
نوع مقاله: review article
شناسه دیجیتال (DOI): 10.22038/ijp.2024.59241.4623
نویسندگان
Roopal Khobragade* 1؛ Balwant Khobragade2؛ Pankaj Narwade3
1Department of Pediatric, NKP salve medical college and Lata mangeshkar hospital, Nagpur ,Maharashtra, India
2DEPARTMENT OF PEDIATRIC, EX-PROFESSOR NKP SALVE MEDICAL COLLEGE, MUHS NASHIK UNIVERSITY ,MAHARASTRA INDIA
3Assistant professor, Department of general surgery NKPSIMS & LMH Nagpur, Maharashtra, India
چکیده
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).
کلیدواژه‌ها
Homozygous HbSS؛ Beta globin gene
مراجع
Graham R. Serjeant: Evolving locally appropriate models of care for Indian sickle cell disease, Indian J Med Res. 2016 Apr; 143(4): 405–413.

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