Reyes-Núñez Virginia, Garcés-Eisele Javier, Jorge Susan, Kimura Elza, Ferreira-Costa Fernando, Sonati María de Fátima, Ruiz-Reyes Guillermo
Laboratorios Clínicos de Puebla.
Rev Invest Clin. 2006 May-Jun;58(3):234-6.
alpha-Thalassemia (alpha-Thal) has been poorly characterized at the molecular level in Mexico.
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.
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.
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.
