| Summary: | Thalassemias are the second most prevalent world wide single genetic disorders after sickle cell anemia. Thalassemic children need rou tine blood transfusion and iron chelation therapy life long, otherwise they will suffered from growth and developmental retardation, frequent infections and other complications, and will die in the first decade of life. With proper treatment they can enjoy life till the fourth or even till the fifth decade. But the proper treatment needs an enormous expense, gives a great burden to the patients, families and community.
The health burden of such therapy for a large number of thalassemic patients is unaffordable by the affected communities. Prevention of the birth of thalasiemic babies is the option for controlling the thalassemia and has been successful in many countries. For this purpose reliable and time accurate prenatal diagnosis is a conditio sine qua non. In vitro analysis of globin synthesis, although has a 99% accuracy, can be done only alter 16 weeks of gestation. DNA analysis of chorionic cells obtained by chorionic villus sampling can be done as early as 8 - 10 weeks of gestation, so it is very practical. The diagnostic test by DNA analysis is very sensitive, very specific and can be completed in 24 hours. The main target of the prenatal diagnosis is the risk groups, e.g. the pregnant women who have previously born thalassemic babies or couples who are thalassemic traits. By involving the prenatal diagnosis, the birth of fl-homozygous thalassemia has decreased by up to 90% reduction. The cost of the prenatal diagnosis is very much cheaper than the supportive treatment. Accuracy and acceptability of the tests by community and collaboration among many sides are the key to success.
Key words: genetic disorder - FBS - CVS - globin chain analysis - DNA analysis - homozygote birth decrease - collaboration
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