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

Hemoglobin. 2004;28(4):343-6. doi: 10.1081/hem-200037719.


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.

MeSH terms

  • Family
  • Female
  • Hemophilia A / complications
  • Hemophilia A / diagnosis*
  • Hemophilia A / epidemiology
  • Humans
  • India
  • Male
  • Pregnancy
  • Prenatal Diagnosis*
  • Prevalence
  • beta-Thalassemia / complications
  • beta-Thalassemia / diagnosis*
  • beta-Thalassemia / epidemiology