Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hb Bart's hydrops fetalis is very common in Southeast Asia, especially in Thailand. As the mother of such an infant may suffer from toxemia of pregnancy, ante- or post-partum hemorrhage as well as the psychological burden for carrying a nonviable fetus to term, so prenatal diagnosis is indicated and the family should be given the choice of early termination of the pregnancy. Seven high risk pregnancies with Hb Bart's hydrops fetalis (homozygous alpha-thalassemia 1) were studied. Amniocentesis was done at 16-33 weeks of gestation. DNA analysis was performed by polymerase chain reaction (PCR) using 2 techniques, 1) three nucleotide primers and 2) four nucleotide primers. After either therapeutic abortion or birth, heart blood or cord blood was drawn to confirm the diagnosis by Hb electrophoresis and DNA analysis. Of 7 high risk fetuses, 3 were recognized as Hb Bart's hydrops fetalis, 2 showed the alpha-thal 1 trait, 1 showed alpha-thal 2 trait and 1 was a normal fetus. The technique was entirely suitable for prenatal diagnosis of Hb Bart's hydrops fetalis. This technique was a rapid, simple non-radioactive method, less expensive and available in most PCR laboratories.
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PMID:Prenatal diagnosis of Hb Bart's hydrops fetalis by PCR technique: Pramongkutklao experience. 862 26

The incidence of alpha-thalassemia has been studied previously based on the levels of Hb Barts' in cord blood. This method is an inadequate indicator of alpha-thalassemia. Thus in this study we use DNA analysis to get more accurate data. Hb Barts' was detected in placental blood samples from 15.5% of 375 infants born at Songklanagarind Hospital. The white blood cell DNA of 300 samples was studied for alpha-globin gene deletions by hybridization of DNA fragments digested by the restriction endonuclease Eco RI with specific 32P-labled zeta-globin gene probe. The incidence of alpha-thal 2 and alpha-thal 1 traits were 12.0% and 4.3%, with the gene frequencies 0.0650 and 0.0217 for -alpha/and --/, respectively. The incidence of HB CS trait was 5.8%, with the gene frequency of 0.0292 for alpha cs alpha/. We also found that the incidence of the triplicated zeta and triplicated alpha were 14.7 and 1.0%, with the gene frequencies of 0.0733 and 0.0050 for zeta zeta zeta/and alpha alpha alpha/, respectively. The DNA lesion of alpha-thalassemia in the south is similar to the study of Tanphaichitr et al (1988) in central Thailand. Knowledge of alpha-globin gene deletion would be useful for prenatal diagnosis of Bart's hydrops to prevent toxemia of pregnancy in the south of Thailand.
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PMID:Alpha-thalassemia incidence in southern Thailand by restriction endonuclease analysis of globin DNA from placental blood at Songklanagarind Hospital. 964 Jun 6

Thirty-two mothers with thalassemia, more than half of whom had hemoglobin H disease with or without other forms of thalassemia or hemoglobinopathies along with their 46 children were evaluated. The mean maternal hematocrit was 22.2% and the mean maternal body mass index was 18.7. The majority of women were not transfused during pregnancy. Eight point seven percent developed toxemia of pregnancy. All had spontaneous labor, 69.5% had a normal vaginal delivery and 23.9% had a cesarean section. The mean infant birth weight was 2,542.2 grams. Low birth weight was found in 34.7%; no extremely low birth weights occurred.
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PMID:Thalassemic mothers and their babies. 1932 15

The thalassemias are a group of inherited hematologic disorders caused by defects in the synthesis of one or more of the hemoglobin chains. Alpha thalassemia is caused by reduced or absent synthesis of alpha globin chains, and beta thalassemia is caused by reduced or absent synthesis of beta globin chains. Imbalances of globin chains cause hemolysis and impair erythropoiesis. Silent carriers of alpha thalassemia and persons with alpha or beta thalassemia trait are asymptomatic and require no treatment. Alpha thalassemia intermedia, or hemoglobin H disease, causes hemolytic anemia. Alpha thalassemia major with hemoglobin Bart's usually results in fatal hydrops fetalis. Beta thalassemia major causes hemolytic anemia, poor growth, and skeletal abnormalities during infancy. Affected children will require regular lifelong blood transfusions. Beta thalassemia intermedia is less severe than beta thalassemia major and may require episodic blood transfusions. Transfusion-dependent patients will develop iron overload and require chelation therapy to remove the excess iron. Bone marrow transplants can be curative for some children with beta thalassemia major. Persons with thalassemia should be referred for preconception genetic counseling, and persons with alpha thalassemia trait should consider chorionic villus sampling to diagnose infants with hemoglobin Bart's, which increases the risk of toxemia and postpartum bleeding. Persons with the thalassemia trait have a normal life expectancy. Persons with beta thalassemia major often die from cardiac complications of iron overload by 30 years of age.
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PMID:Alpha and beta thalassemia. 1967 1