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Type: Artigo de periódico
Title: Molecular characterization of alpha-thalassemia in the Mexican population
Author: Reyes-Nunez, V
Garces-Eisele, J
Jorge, S
Kimura, E
Ferreira-Costa, F
Sonati, MD
Ruiz-Reyes, G
Abstract: Background. alpha-Thalassernia (alpha-Thal) has been poorly characterized at the molecular level in Mexico. Methods. 106 consecutive individuals identified in Laboratorios Clinicos de Puebla, with either hypochromia (MCH < 24 pg) and/or microcytosis (MCV < 75 fl in women or < 80 fl in man), without iron deficiency, with or without anemia were investigated in this study, along a 16 month-period. a and beta-Thal were looked for, the former were characterized at the molecular level. Results. Out of the 106 consecutive cases with hypochromia and/or microcytosis and normal levels of protoporphyrin zinc complex, 48 cases (45.3%) had thalassemia (37 cases of beta-Thal and 11 cases of alpha-Thal), whereas in 58 cases (54.7%) a definite diagnosis could not be established. Of the alpha-Thal cases, 8 were heterozygous and two were homozygous for the -alpha(3.7) deletion, whereas one case was heterozygous for the alpha 2(Hph) allele. Conclusions. Only few of the alpha-Thal alleles tested were found, thus the alpha-thalassemic mutations, present in the studied population, seem to be rather heterogeneous.
Country: México
Editor: Inst Nacional Nutricion
Rights: aberto
Date Issue: 2006
Appears in Collections:Unicamp - Artigos e Outros Documentos

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