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)

We describe a newly detected alpha-thalassemia-2 (alpha-thal-2) deletion characterized by a small -2.7-kb deletion involving the alpha 1 globin gene. This deletion has thus far been observed in only one Chinese subject with Hb H disease.
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PMID:A novel alpha-thalassemia-2 (-2.7-kb) observed in a Chinese patient with Hb H disease. 195 30

Data on a 24-year-old Chinese male with Hb Q-Thailand-Hb H disease are presented. The hemoglobin variant was characterized by fast microprocedures, mainly by reverse-phase high-performance liquid chromatography. Gene mapping analyses identified the alpha-thalassemia-2, which is associated with the alpha-Q chain, as caused by a 4.2-kb deletion involving the alpha 2 globin gene, while the alpha-thalassemia-1 anomaly was the common Southeast Asian type in which part of the psi zeta, the psi alpha, and the alpha 2 and alpha 1 globin genes are deleted.
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PMID:HB Q-Thailand-HB H disease in a Chinese living in Geneva, Switzerland: characterization of the variant and identification of the two alpha-thalassemic chromosomes. 288 71

Detailed restriction enzyme analysis of the DNA from a Chinese female showed that one of her chromosomes had a greater than 17.5 kb deletion of DNA, including the psi alpha, alpha 2, and alpha 1 globin genes, which is present in many Southeast Asians with an alpha-thalassemia-1 chromosome. Her "normal" chromosome had the expected cluster of alpha-like globin genes (5'-zeta-psi zeta-psi alpha-alpha 2-alpha 1-3'), but the segment of DNA between the two alpha globin genes was elongated by some 0.5-0.7 kb. Analyses of various restriction sites suggested that this normal variant of the human alpha globin gene complex is due to a crossover between a normal chromosome with (alpha alpha) and a chromosome with an alpha-thalassemia-2 (-alpha 3.7) and an -alpha 2 alpha 1-hybrid gene.
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PMID:An elongated segment of DNA observed between two human alpha globin genes. 302 76

Detailed data are presented concerning the relative amounts of Hb A and two alpha chain variants (Hb Duan with alpha 75 Asp----Ala, and Hb Westmead with alpha 122 His----Gln), and the occurrence of an alpha-thalassemia-2 heterozygosity in five members of a small Chinese family. The three children who have the three abnormalities inherited the alpha-Duan and alpha-thalassemia-2 heterozygosities from their father, and the alpha-Westmead heterozygosity from their mother. The base substitution which leads to the synthesis of the alpha-Duan chain occurred at codon 75 of the alpha 1 globin gene of the chromosome which also carried the alpha-thalassemia-2 deletion; the concentration of alpha-Duan (37% of total alpha) is similar to that observed for other alpha chain variants, linked to an alpha-thalassemia-2 condition.
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PMID:Hb Duan [alpha 75(EF4)Asp----Ala], Hb Westmead [alpha 122(H5)His----Gln], and alpha-thalassemia-2 (-4.2 Kb deletion) in a Chinese family. 338 94

A new alpha thalassemia defect has been detected in the South African population. Restriction mapping of the alpha globin gene cluster in affected individuals has established that the defect is associated with the removal of 22.8-23.7 kb of DNA, including the psi zeta 1, psi alpha 1, psi alpha 2, alpha 2 and alpha 1 globin genes. The 5' endpoint of the deletion has been localized between the zeta 2 and psi zeta 1 globin genes, and the 3' endpoint lies 4-5 kb 3' to the alpha 1 globin gene. We have called the deletion - -SA in order to distinguish it from alpha zero thalassaemia defects described in other populations.
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PMID:Characterization of a new alpha zero thalassaemia defect in the South African population. 366 10

We sequenced part of the X boxes of alpha-thalassemia-1 of Southeast Asia type (- -SEA) with -alpha 4.2, -alpha 3.7, -alpha G-Taichung, and alpha CS alpha. We found the X box of -alpha 3.7 belonged to the X box of alpha 2 globin gene and the X box of alpha CS alpha contained X boxes of both alpha 1 and alpha 2 globin gene, whereas the X box of -alpha 4.2 and -alpha G-Taichung was a hybrid of X boxes of alpha 2 and alpha 1 globin gene. We also found there are two types of -alpha 4.2 deletion; type 1 is a common type of -alpha 4.2 deletion and type 2 is linkage to -alpha G-Taichung. We used a combination of two methods, the amplification refractory mutation system (ARMS) and the amplified created restriction sites (ACRS), to amplify the hybrids of X boxes specifically. The upstream primer for X box of alpha 2 globin gene was designed following the standard ARMS procedure to amplify the X segment of the alpha-globin gene. The downstream primer was designed according to the ACRS method to check the specificity of PCR products. Using this approach, we can diagnose the different types of -alpha 4.2 deletion. This kind of approach can also be used to amplify the specific region from the cluster of highly homologous genes.
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PMID:Rapid detection of -alpha 4.2 deletion of alpha-thalassemia-2 by polymerase chain reaction. 794 8

We have developed a rapid method to molecularly distinguish different types of Hb H disease. The study depended on (a) most of the Hb H disease in Taiwan having an alpha-thalassemia-1 of the Southeast Asia type (--SEA) in one allele and (b) the differences of X box of alpha-globin gene cluster in the other allele. To detect the --SEA allele, we utilized the primers located on either side of the breakpoint to do PCR, then characterized the amplified products. For the other allele, we sequenced part of the X box, and found that bases -2803 to -2461 of the X box of -alpha 3.7 belonged to the X box of alpha 2 globin gene. In -alpha 4.2, the bases belonged to the X box of alpha 1 globin gene, whereas in alpha CS alpha it contained both X boxes of alpha 1 and alpha 2 globin genes. There was an MboII site at this region of the X box of alpha 2 globin gene. We utilized PCR to amplify this region and digested it with restriction enzyme MboII, then combined it with another PCR of different types of Hb H disease. One hundred and one cases of Hb H disease from different families were studied: all of the cases had one allele of --SEA deletion, while the other allele showed that 52/101 were -alpha 3.7, 41/101 were alpha CS alpha, 7/101 were -alpha 4.2, and 1/101 was -alpha G. Taichung. Of 52 cases of Hb H with -alpha 3.7, 47 were type-I deletion and five were type-II deletion.
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PMID:Rapid molecular characterization of Hb H disease in Chinese by polymerase chain reaction. 811 Aug 77