Literature DB >> 15658191

Prenatal diagnosis in a family at risk for beta-thalassemia and hemophilia A: an uncommon association.

Roshan B Colah1, Shrimati D Shetty, Reema R Surve, Supriya P Phanasgaonkar, Anita H Nadkarni, Ajit C Gorakshakar, Kanjaksha Ghosh, Sunil J Parekh, Dipika Mohanty.   

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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Year:  2004        PMID: 15658191     DOI: 10.1081/hem-200037719

Source DB:  PubMed          Journal:  Hemoglobin        ISSN: 0363-0269            Impact factor:   0.849


  1 in total

1.  Sickle cell-β thalassemia with concomitant hemophilia A: a rare presentation.

Authors:  Pratibha Dhiman; Rahul Chaudhary; Krishna Sudha
Journal:  Blood Res       Date:  2015-12-21
  1 in total

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