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

We attempted prenatal diagnosis of hemoglobinopathies in 15 cases--11 for beta-thalassemia and four for sickle-cell disease. Fetoscopy was used in seven cases, and placental aspiration in eight. One premature labor, with fetal loss, followed placental aspiration. Globin synthesis was assessed by incubation of samples with 3H-leucine and chain separation on carboxymethylcellulose columns. Homozygous disease was predicted in two pregnancies, which were interrupted, and the diagnosis confirmed. In one case homozygosity was suspected. A repeat test was advised but not accepted. The fetus had thalassemia trait. One pregnancy was interrupted despite our prediction of thalassemia trait. Eight pregnancies went to term. Seven predictions that the infants would not have homozygous disease were confirmed. One prediction of sickle trait proved to be sickle-cell disease. Although prenatal diagnosis of hemoglobinopathies is feasible, the present frequency of fetal loss and diagnostic error indicates need for improvement.
 ...
PMID:Prenatal diagnosis of hemoglobinopathies. A review of 15 cases. 99 41

Anemia in pregnancy continues to be a serious problem in many developing countries, with significant adverse effects for both mother and infant. This article summarizes the available literature on anemia in pregnancy in developing countries, with emphasis on prevalence, etiology, and consequences. Prevalence data, especially from rural populations, are inadequate and little effort has been made to establish local etiologic patterns. Although emphasis has been placed on the role of nutritional deficiencies (especially iron) in anemia, the etiology is likely multifactorial. The relative contribution of etiologic factors such as iron and folate deficiencies, hemoglobinopathies, and malaria and hookworm infestation vary by geographic region and season. Anemia in pregnancy has been associated with increased risks of premature labor and low birth weight. There is an immediate need to assess more carefully the local etiologic factors and then design new strategies for prevention and treatment.
 ...
PMID:Anaemia in pregnancy in developing countries. 960 57