Preventation of thalassemia in Australia.
Screening for thalassemia and other hemoglobinopathies in the major maternity hospitals in Melbourne, Australia has shown that 6% of the patient population carries a clinically significant genetic abnormality. The most common of these are beta-thalassemia (3%). HbS (1.8%), HbE (0.5%) and alpha0 thalassemia (0.4%). Approximately 60 prenatal diagnoses for the clinically significant combinations of these abnormal genes are performed annually in the 2 major centers of Melbourne and Sydney. The majority of these prenatal diagnoses are for beta-thalassemia major (65%). whilst 11% are for Bart's hydrops fetalis, 8% for HbE/beta-thalassemia. 6% for HbS/beta-thalassemia, 2% for sickle cell anemia and the remaining 8% for other combinations of thalassemia/hemoglobinopathies. Of the 178 patients with beta-thalassemia major, sickle cell disease or beta-thalassemia in combination with HbE or HbS, only 5 are less than 5 years old, reflecting both the success of the screening program and the increasing acceptance by couples of 1st trimester prenatal diagnosis.
Hendy
J
J
Clinical Genetics Laboratory, Monash Medical Centre Clayton, Australia.
D001315:Australia / Q000453:epidemiology; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006446:Hemoglobin E / Q000032:analysis; D006451:Hemoglobin, Sickle / Q000032:analysis; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors; D013789:Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics
D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; D006446:Hemoglobin E; C037659:hemoglobin Lepore