Molecular characterization of alpha-thalassemia in the Mexican population

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.