Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis.
alpha-Thalassemia mutations are one of the most common mutations of man, and they cause Hb H disease and Hb Barts hydrops fetalis. Hb H disease is not necessarily a benign disorder as has been generally thought. Furthermore, in southern China and in Southeast Asia, there are 2-3 times more fetuses afflicted with the invariably fatal Hb Barts hydrops fetalis than with the beta-thalassemia major or intermedia. These findings underscore the public health importance of these hereditary disorders, and they call for better education, diagnosis, treatment, prevention, and research for these diseases.
Chui
David H K
DH
Department of Medicine and Pathology, Boston University School of Medicine, 88 East Newton Street, Boston, MA 02118, USA. david.chui@bmc.org
D001210:Asia, Southeastern / Q000453:epidemiology; D002681:China / Q000453:epidemiology; D005260:Female; D005313:Fetal Death / Q000453:epidemiology / Q000209:etiology; D005315:Fetal Diseases / Q000175:diagnosis; D005544:Forecasting; D005787:Gene Frequency; D005838:Genotype; D005914:Globins / Q000235:genetics; D006266:Health Education; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D015160:Hydrops Fetalis / Q000453:epidemiology / Q000209:etiology; D007231:Infant, Newborn; D007391:International Cooperation; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D012106:Research / Q000191:economics / Q000458:organization & administration; D012306:Risk; D017384:Sequence Deletion; D050497:Stillbirth / Q000453:epidemiology; D017085:alpha-Thalassemia / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics / Q000517:prevention & control
D006455:Hemoglobins, Abnormal; D005914:Globins; C030448:hemoglobin Bart's