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  • Title: Red blood cell phenotypes in alpha-thalassemias in the Spanish population.
    Author: Villegas A, Porres A, Sánchez J, González FA, Pérez-Clausell C, Martínez M, Murga MJ, Cachá J, Lozano M, Fernández-Fuertes I, Del Arco A, Arrizabalaga B, Pérez de Mendiguren B, San Juan I, Saavedra R, Ricart P, Sainz C, Guerra JL, Muñoz JA, Lago C, Ansó VM.
    Journal: Haematologica; 1998 Feb; 83(2):99-103. PubMed ID: 9580456.
    Abstract:
    BACKGROUND AND OBJECTIVE: alpha-thalassemia is very common on all thalassemic geographical regions. The present work aimed at analyzing the relationship between the degree of microcytosis and hematological parameters and the type of alpha-thalassemic mutation. DESIGN AND METHODS: Five hundred and thirty-six subjects with 4 kinds of alpha-thalassemia were examined using established techniques that determined all hematological parameters, and globin synthesis and molecular biological techniques to study the DNA of globin genes by Southern blotting. RESULTS: Adult carriers of alpha (+)-thalassemia (-alpha/alpha alpha) present very few hematological alterations. In a statistical comparison with normal individuals (alpha alpha/alpha alpha), significant differences were found between the hemocytometric data and the MCV and MCH of heterozygous alpha + thalassemia and the heterozygous alpha zero or homozygous alpha + genotype. Hb H disease was detected in 15 patients, presenting a severe degree of anemia, a significant increase in RDW and globin chain synthesis with an alpha/beta ratio of 0.5 +/- 0.1. INTERPRETATION AND CONCLUSIONS: These data provide reference values for geographical areas where alpha + thalassemia is common. These hematocytometric data, together with hemoglobin analysis, could be useful as a future reference data for new patients diagnosed with alpha-thalassemia.
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