Red blood cell phenotypes in alpha-thalassemias in the Spanish population

Servicio de Hematologia, Hospital Universitario San Carlos, Universidad Complutense, Madrid, Spain. 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 hematolo...

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Published in:Haematologica (Roma) 1998-02, Vol.83 (2), p.99-103
Main Authors: Villegas, A, Porres, A, Sanchez, J, Gonzalez, FA, Perez-Clausell, C, Martinez, M, Murga, MJ, Cacha, J, Lozano, M, Fernandez-Fuertes, I, Del Arco, A, Arrizabalaga, B, Perez de Mendiguren, B, San Juan, I, Saavedra, R, Ricart, P, Sainz, C, Guerra, JL, Munoz, JA, Lago, C, Anso, VM
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age Factors
Aged
Aged, 80 and over
alpha-Thalassemia - blood
alpha-Thalassemia - classification
alpha-Thalassemia - genetics
Child
Child, Preschool
Erythrocyte Indices
Erythrocytes - metabolism
Female
Genotype
Hematocrit
Hemoglobin H - genetics
Humans
Male
Phenotype
Reticulocyte Count
Sex Factors
Spain
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Summary:Servicio de Hematologia, Hospital Universitario San Carlos, Universidad Complutense, Madrid, Spain. 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.
ISSN:0390-6078
1592-8721