Title of article :
Sickle Cell Disease: A Single Gene Mutation with Varied Presentations
Author/Authors :
Khobragade ، Roopal Department of Pediatric - NKP salve medical college and Lata mangeshkar hospital , Khobragade ، Balwant Department of pediatrics - ex-professor nkp salve medical college - Muhs Nashik University , Narwade ، Pankaj Department of general surgery - NKPSIMS LMH Nagpur
From page :
18832
To page :
18840
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
Journal title :
International Journal of Pediatrics
Journal title :
International Journal of Pediatrics
Record number :
2780662
Link To Document :
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