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Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

2006, Number 3

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Rev Invest Clin 2006; 58 (3)

Molecular characterization of alpha-thalassemia in the Mexican population

Reyes-Núñez V, Garcés-Eisele J, Jorge S, Kimura E, Ferreira-Costa F, Sonati MF, Ruiz-Reyes G

Language: English
References: 18
Page: 23
PDF size: 52.96 Kb.


ABSTRACT

Background. α-Thalassemia (α-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. α and β-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 β-Thal and 11 cases of α-Thal), whereas in 58 cases (54.7%) a definite diagnosis could not be established. Of the α-Thal cases, 8 were heterozygous and two were homozygous for the −α3.7 deletion, whereas one case was heterozygous for the α2Hph allele.Conclusions. Only few of the α-Thal alleles tested were found, thus the α-thalassemic mutations, present in the studied population, seem to be rather heterogeneous.


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