Document Detail


Molecular characterization of alpha-thalassemia in the Mexican population.
MedLine Citation:
PMID:  16958299     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: alpha-Thalassemia (alpha-Thal) has been poorly characterized at the molecular level in Mexico.
METHODS: 106 consecutive individuals identified in Laboratorios Clínicos 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. alpha 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 betaThal and 11 cases of alphaThal), 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 -alpha3.7 deletion, whereas one case was heterozygous for the alpha2Hph 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.
Authors:
Virginia Reyes-Núñez; Javier Garcés-Eisele; Susan Jorge; Elza Kimura; Fernando Ferreira-Costa; María de Fátima Sonati; Guillermo Ruiz-Reyes
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Revista de investigación clínica; organo del Hospital de Enfermedades de la Nutrición     Volume:  58     ISSN:  0034-8376     ISO Abbreviation:  Rev. Invest. Clin.     Publication Date:    2006 May-Jun
Date Detail:
Created Date:  2006-09-08     Completed Date:  2007-01-04     Revised Date:  2011-10-20    
Medline Journal Info:
Nlm Unique ID:  9421552     Medline TA:  Rev Invest Clin     Country:  Mexico    
Other Details:
Languages:  eng     Pagination:  234-6     Citation Subset:  IM    
Affiliation:
Laboratorios Clínicos de Puebla.
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MeSH Terms
Descriptor/Qualifier:
Anemia, Hypochromic / epidemiology
Female
Genotype
Globins / genetics*
Humans
Male
Mexico / epidemiology
Prospective Studies
alpha-Thalassemia / epidemiology*,  genetics
beta-Thalassemia / epidemiology,  genetics
Chemical
Reg. No./Substance:
9004-22-2/Globins

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