Prenatal diagnosis of beta-thalassemia.
In this review I have discussed the state of our knowledge of the molecular basis of beta-thalassemia and its prenatal diagnosis. Improved but more complicated genetic counselling is now available as a result of our increased knowledge of the effects of various defects in the beta-globin gene. Our knowledge of the heterogenous molecular basis of the thalassemia syndromes has become very impressive and it is hoped that effective therapy will soon follow. However, for the present, prevention of the birth of affected children is the most effective means of reducing the suffering associated with the thalassemia syndromes, and prevention of this type is succeeding in many parts of the world, including North America.
Kazazian
H H
HH
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD.
D005006:Ethnicity; D005796:Genes; D005817:Genetic Counseling; D006801:Humans; D008403:Mass Screening; D009154:Mutation; D011296:Prenatal Diagnosis; D015995:Prevalence; D013789:Thalassemia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics