title: Feasibility of thalassaemia control by extended family screening in Indian context.
abstract: Thalassaemia is one of the most common genetic disorders in India. Its control is possible by screening of general population for carrier status and by antenatal diagnosis in couples at risk of having a child with thalassaemia. This study explored the feasibility of screening the extended family to detect carriers to prevent birth of thalassaemic children and identified the barriers to its acceptance. One hundred parents with thalassaemic child on a regular hypertransfusion programme were interviewed using a pre-designed questionnaire. The results showed that 96% of them were more willing to share information on their thalassaemic children with relatives and friends. Relatives of 62 parents accepted the risk of being a carrier, and 14 families got themselves tested for it so far. Another 34 families could not get themselves tested due to non-availability of screening facilities in the nearby town, high cost of the test, and lack of sufficient motivation. It is concluded that, by and large, parents have no reservations in sharing information on their affected children with their relatives, but the communication needs to be improved for all families to accept the risk of having a thalassaemic child. There is also a need to make the screening more readily available and to motivate high-risk groups through awareness-raising programmes.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India. anitimmy@sgpgi.ac.in
authors.forename: Anita
authors.initials: A
authors.lastname: Saxena
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
mesh_terms: D000328:Adult; D001290:Attitude; D005240:Feasibility Studies; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007194:India; D008297:Male; D011795:Surveys and Questionnaires; D013789:Thalassemia / Q000235:genetics* / Q000517:prevention & control*