Screening Extended Families for Genetic Hemoglobin Disorders in Pakistan
Open Access
- 10 October 2002
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 347 (15) , 1162-1168
- https://doi.org/10.1056/nejmsa013234
Abstract
We have investigated a strategy for identifying and counseling carriers of recessively inherited disorders in developing countries where consanguineous marriage is common. In such communities, gene variants are trapped within extended families, so that an affected child is a marker of a group at high genetic risk.Keywords
This publication has 8 references indexed in Scilit:
- Long-term effect of prospective detection of high genetic risk on couples' reproductive life: data for thalassaemiaPrenatal Diagnosis, 2000
- Prenatal diagnosis of beta-thalassaemia in Pakistan: experience in a Muslim countryPrenatal Diagnosis, 2000
- Analysis of the Population Structure in OmanPublic Health Genomics, 1999
- THE LABORATORY DIAGNOSIS OF HAEMOGLOBINOPATHIESBritish Journal of Haematology, 1998
- Birth Defects and Parental Consanguinity in NorwayAmerican Journal of Epidemiology, 1997
- Prenatal screening for haemoglobin disordersPrenatal Diagnosis, 1995
- The Role and Significance of Consanguinity as a Demographic VariablePopulation and Development Review, 1994
- THALASSÆMIA AS A MODEL OF RECESSIVE GENETIC DISEASE IN THE COMMUNITYThe Lancet, 1980