Prenatal diagnosis in a family at risk for beta-thalassemia and hemophilia A: an uncommon association.
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.
Colah
Roshan B
RB
Institute of Immunohaematology, Indian Council of Medical Research, Mumbai, India. mohanty@bom5.vsnl.net.in
Shetty
Shrimati D
SD
Surve
Reema R
RR
Phanasgaonkar
Supriya P
SP
Nadkarni
Anita H
AH
Gorakshakar
Ajit C
AC
Ghosh
Kanjaksha
K
Parekh
Sunil J
SJ
Mohanty
Dipika
D
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