Indian Journal of Human Genetics
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CASE REPORT
Year : 2005  |  Volume : 11  |  Issue : 3  |  Page : 154-155

Hemoglobin sickle D Punjab-a case report


Institute of Immunohaematology, Parel, Mumbai, India

Correspondence Address:
R B Colah
Institute of Immunohaematology (ICMR), 13th Floor, N M S Building, K E M Hospital Campus, Parel, Mumbai-400 012
India
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DOI: 10.4103/0971-6866.19536

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Compound heterozygosity for bS/bD 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.


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