Prenatal diagnosis in a family at risk for beta-thalassemia and hemophilia A: an uncommon association |
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| Authors: | Colah Roshan B Shetty Shrimati D Surve Reema R Phanasgaonkar Supriya P Nadkarni Anita H Gorakshakar Ajit C Ghosh Kanjaksha Parekh Sunil J Mohanty Dipika |
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| Affiliation: | Institute of Immunohaematology, Indian Council of Medical Research, Mumbai, India. mohanty@bom5.vsnl.net.in |
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| Abstract: | beta-Thalassemia (thal) is an autosomal recessive disorder with a prevalence of 2-3% in Indians, while hemophilia A is X-linked with a prevalence of 1 in 5,000-10,000 male births. The chances of both these disorders being present together is extremely rare (1 in 250,000). We report an interesting consanguineous family from Western India with a combination of these two disorders, which was referred to us for prenatal diagnosis. |
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