ABSTRACT
OBJECTIVE: To identify by molecular biology the alleles of alpha-Thal in selected hospital populations. METHODS: Eighteen propositi with hematological and biochemical data suggestive of alpha-thalassemia, selected from 356 patients of four hospitals in two cities with probable hemoglobinopathy were investigated for six common alpha-Thal alleles. Molecular studies were done by PCR and digestion with specific restriction enzymes. RESULTS: The alpha 3.7 allele was identified in two cases and the family study revealed the same allele in the mother; HbS heterozigocity was also detected in one of them. An analysis with Apa I demonstrated a class I deletion in both patients. The present study showed 2/356 (0.6%) of alpha 3.71 carriers which is a low frequency as compared with other countries. As no other common alpha-thalassemia alleles were found, we suspect that alpha-Thal in Mexico is as heterogeneous at a molecular level as beta-Thal.
