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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866 EISSN: 0971-6866
Vol. 11, No. 3, 2005, pp. 154-155
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Bioline Code: hg05030
Full paper language: English
Document type: Research Article
Document available free of charge
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Indian Journal of Human Genetics, Vol. 11, No. 3, 2005, pp. 154-155
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Case Reports- Hemoglobin sickle D Punjab-a case report
Mukherjee MB, Surve RR, Gangakhedkar RR, Mohanty D, Colah RB
Abstract
Compound heterozygosity for βS/βD results in a severe hemolytic anemia and a clinical syndrome similar to that of sickle cell disease. Here, we report a case of HbSD Punjab disease. A 10 year old female child residing at Nagpur, Maharashtra presented with severe hemolytic anemia, hepatosplenomegaly and occasional pains in bones and abdomen. Initially, she was thought to be a case of sickle cell anemia, however, with the help of HPLC and molecular analysis it was confirmed as HbSD Punjab disease.
Keywords
HbSD Punjab, Sickle cell disease, Haplotype, a-geonotype
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© Copyright 2005 Indian Journal of Human Genetics. Alternative site location: http://www.ijhg.com/
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