Prenatal Diagnosis in a Family at Risk for β-Thalassemia and Hemophilia A: An Uncommon Association

β-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 consa...

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Bibliographic Details
Published in:Hemoglobin 2004, Vol.28 (4), p.343-346
Main 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
Format: Article
Language:English
Subjects:
beta-Thalassemia - complications
beta-Thalassemia - diagnosis
beta-Thalassemia - epidemiology
Family
Female
Hemophilia A
Hemophilia A - complications
Hemophilia A - diagnosis
Hemophilia A - epidemiology
Humans
India
Male
Pregnancy
Prenatal Diagnosis
Prevalence
β-Thalassemia
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Summary:β-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.
ISSN:0363-0269
1532-432X
DOI:10.1081/HEM-200037719