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Type: Artigo de periódico
Title: α-globin Genes: Thalassemic And Structural Alterations In A Brazilian Population
Author: Wenning M.R.S.C.
Kimura E.M.
Costa F.F.
Saad S.T.O.
Gervasio S.
De Jorge S.B.
Borges E.
Silva N.M.
Sonati M.F.
Abstract: Seven unrelated patients with hemoglobin (Hb) H disease and 27 individuals with α-chain structural alterations were studied to identify the α-globin gene mutations present in the population of Southeast Brazil. The -α3.7, -MED and -(α)20.5 deletions were investigated by PCR, whereas non-deletional α-thalassemia (αHphα, αNcolα, ααNcol, αIcα and αTSaudiα) was screened with restriction enzymes and by nested PCR. Structural alterations were identified by direct DNA sequencing. Of the seven patients with Hb H disease, all of Italian descent, two had the -(α)20.5/-α3.7 genotype, one had the -MED/-α3.7 genotype, one had the -MED/αHphα genotype and three showed interaction of the -α3.7 deletion with an unusual, unidentified form of non-deletional α-thalassemia [-α3.7/(αα)T]. Among the 27 patients with structural alterations, 15 (of Italian descent) had Hb Hasharon (α47Asp→His) associated with the -α3.7 deletion, 4 (of Italian descent) were heterozygous for Hb J-Rovigo (α53Ala→Asp), 4 (3 Blacks and 1 Caucasian) were heterozygous for Hb Stanleyville-II (α78Asn→Lys) associated with the α+-thalassemia, 1 (Black) was heterozygous for Hb G-Pest (α74Asp→Asn), 1 (Caucasian) was heterozygous for Hb Kurosaki (α7Lys→Glu), 1 (Caucasian) was heterozygous for Hb Westmead (α122His→Gln), and 1 (Caucasian) was the carrier of a novel silent variant (Hb Campinas, α26Ala→Val). Most of the mutations found reflected the Mediterranean and African origins of the population. Hbs G-Pest and Kurosaki, very rare, and Hb Westmead, common in southern China, were initially described in individuals of ethnic origin differing from those of the carriers reported in the present study and are the first cases to be reported in the Brazilian population.
Rights: aberto
Identifier DOI: 
Date Issue: 2000
Appears in Collections:Unicamp - Artigos e Outros Documentos

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