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

Abstract

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.

• Prenatal diagnosis
• β‐Thalassemia
• Hemophilia A