Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

During a 10-month period, 10 couples originating from Africa (3), the tropics (1) and the thalassemia-belt region (6), living in Switzerland, requested prenatal diagnosis of hemoglobinopathies. Hb SS (twice), Hb Bart's (Hydrops fetalis) and beta-thalassemia major were diagnosed either by gene mapping or by direct detection of the mutations in DNA amplified by the PCR procedure. Whenever it was possible to obtain fetal blood or tissue, diagnosis was confirmed. In one Vietnamese man, concomitant existence of alpha-thal 1 with beta-thalassemia resulted in an unusually high Hb level because of balanced alpha and beta globin synthesis. The 10 couples examined originated from 7 different countries and presented at least 7 different Hb pathologies. This variety of pathologies represents the main difficulty for prenatal diagnosis of hemoglobinopathies in a non-endemic country. A diagnostic approach to overcome this problem is developed.
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PMID:Prenatal diagnosis of thalassemia and hemoglobinopathies in Switzerland. 200 49

This was a retrospective case-control study of hydrops fetalis due to Bart hemoglobinopathy at Ramathibodi Hospital between 1978-1987. The incidence was 0.61 per 1,000 deliveries. Hydrops fetalis tend to go into labour prematurely with smaller fetuses and larger placentae. When compared with the control group there were statistically significant differences in the history of previous perinatal loss and obstetric complications i.e. hypertensive disorder in pregnancy and postpartum hemorrhage. Early diagnosis and termination of pregnancy will avoid these complications.
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PMID:Hydrops fetalis due to Bart hemoglobinopathy at Ramathibodi Hospital (1978-1987): a 10-year review. 235 17

Alpha-thalassemia is an autosomal recessive genetic disease as well as a relatively common hemoglobinopathy. Severe alpha-thalassemia (also known as Hb Bart's Hydrops fetalis syndrome) and intermediate alpha-thalassemia (also known as Hb H disease) are among the most common birth defects in southern China. To implement carrier screening and large population prevention program in high incidence areas can significantly reduce the incidence of alpha-thalassemia. This guideline was established by combining the discoveries of basic research, clinical research and guidelines from other countries and the actual data of Chinese population. It has summarized the medical genetics knowledge and key points in the clinical treatment for alpha-thalassemia, and provided suggestions for the clinical diagnosis and standard management of patients.
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PMID:[Clinical practice guidelines for alpha-thalassemia]. 3212 38