title: Prenatal diagnosis in a family at risk for beta-thalassemia and hemophilia A: an uncommon association.
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.
authors.affiliation: Institute of Immunohaematology, Indian Council of Medical Research, Mumbai, India. mohanty@bom5.vsnl.net.in
authors.forename: Roshan B
authors.initials: RB
authors.lastname: Colah
authors.forename: Shrimati D
authors.initials: SD
authors.lastname: Shetty
authors.forename: Reema R
authors.initials: RR
authors.lastname: Surve
authors.forename: Supriya P
authors.initials: SP
authors.lastname: Phanasgaonkar
authors.forename: Anita H
authors.initials: AH
authors.lastname: Nadkarni
authors.forename: Ajit C
authors.initials: AC
authors.lastname: Gorakshakar
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.forename: Sunil J
authors.initials: SJ
authors.lastname: Parekh
authors.forename: Dipika
authors.initials: D
authors.lastname: Mohanty
mesh_terms: D005190:Family; D005260:Female; D006467:Hemophilia A / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D007194:India; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D015995:Prevalence; D017086:beta-Thalassemia / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology