Prevention of thalassaemias in South-East Asia.
There are about 55 million people in South-East Asia carrying a thalassaemia gene or a haemoglobin E gene. It is thus not surprising that there are large numbers of patients suffering from beta thalassaemia major, HbE-beta thalassaemia, HbH disease and babies born dead with homozygous alpha thalassaemia (Barts hydrops fetalis). The present methods available for the management of these disorders are discussed and are far from ideal and patients may die from these diseases in spite of treatment, and for many during their short life span, the quality of life is poor. It is therefore argued that prevention of the birth of such individuals is the only satisfactory method of 'management'. In this regard, population screening methods are described and the practicality and usefulness of such population screening for S.E. Asia are discussed. Prenatal diagnosis for these disorders have reached a stage where it is a practical proposition and the various methods using chain separation of fetal blood, and DNA recombinant analysis of fetal cells are described.
D001210:Asia, Southeastern; D005006:Ethnicity; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006446:Hemoglobin E / Q000235:genetics*; D006447:Hemoglobin H / Q000235:genetics; D006453:Hemoglobinopathies / Q000235:genetics / Q000517:prevention & control*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000235:genetics / Q000517:prevention & control*
D006455:Hemoglobins, Abnormal; D006446:Hemoglobin E; D006447:Hemoglobin H