| Molecular characterization of alpha-thalassemia in the Mexican population. | |
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MedLine Citation:
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PMID: 16958299 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Journal Article |
Journal Detail:
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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:
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Created Date: 2006-09-08 Completed Date: 2007-01-04 Revised Date: 2011-10-20 |
Medline Journal Info:
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Nlm Unique ID: 9421552 Medline TA: Rev Invest Clin Country: Mexico |
Other Details:
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Languages: eng Pagination: 234-6 Citation Subset: IM |
Affiliation:
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Laboratorios Clínicos de Puebla. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Anemia, Hypochromic
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epidemiology Female Genotype Globins / genetics* Humans Male Mexico / epidemiology Prospective Studies alpha-Thalassemia / epidemiology*, genetics beta-Thalassemia / epidemiology, genetics |
| Chemical | |
Reg. No./Substance:
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9004-22-2/Globins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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