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)

The T gamma chain of human fetal hemoglobin has a threonyl in stead of an isoleucyl residue in position 75. When the cord bloods from infants from varied ethnic backgrouds and geographic areas were tested for the presence of the T gamma chain, it was present in 28 or 98 samples. In some groups as many as 40% had the T gamma chain whereas none was detected in other. When the T gamma chain was present, its quantity was about 20% of the total gamma chains, but one case had 35%. Among beta-thalassemia homozygotes of the Mediterranean region, 70% and the T gamma chain in the amount of 20-50% of the total gamma chains, but seven Black beta-thalassemia homozygotes were negative for the T gamma chain. The fetal hemoglobin of 16 adult patients with sickle cell anemia had no T gamma chains, but 2 of 9 newborn children with sickle cell anemia had the T gamma chain. The frequency of the T gamma gene (16), the relationship of the T gamma gene to the G gamma and A gamma genes, and the significance of the T gamma gene are discussed.
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PMID:The T gamma chain of human fetal hemoglobin at birth and in several abnormal hematologic conditions. 90 75

Further examination of the Hb F in beta thalassemia has substantiated earlier conclusions that the Hb F of heterozygotes has a bimodal distribution of the G gamma to A gamma ratio whereas that of homozygotes does not. Although the T gamma chain is present in the Hb F of beta thalassemia and delta beta thalassemia, it occurs also in cord blood Hb F without thalassemia and it, therefore, is not a special feature of the thalassemia condition. The T gamma chain has not been detected in the Hb F from HPFH. Because studies of genomic DNA have detected single G gamma and A gamma genes instead of pairs of both, some explanations of the observed heterogeneity and control of Hb F production must be reconsidered. On the other hand, experiments with DNA agree with the suggestion that a different extent of deletion leads to HPFH or to delta beta thalassemia. As further studies of genomic DNA are made, a search should be made for the means by which the G gamma to A gamma ratio is controlled at the newborn or adult level, for the manner in which the quantity of Hb F is regulated, and for the determinants that may influence the production of Hb F in trans.
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PMID:Hemoglobin F in beta thalassemia and related conditions. 615 26

Using IEF on slabs of acrylamide gel was adapted for screening of abnormal Hemoglobins which are at the same level by electrophoresis on cellulose acetate strips. This method is fast, inexpensive and allowed the simultaneous analysis of 70 samples of whole blood. The characterization technique of IEF allowed us to distinguish some rare variants like Hb O Arab, HbD and T gamma in B 0-thalassemia.
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PMID:[Identification of abnormal hemoglobins by isoelectric focusing]. 653 14