Molecular characterization of alpha-thalassemia in the Mexican population.
Rev Invest Clin
; 58(3): 234-6, 2006.
Article
in En
| MEDLINE
| ID: mdl-16958299
ABSTRACT
BACKGROUND:
alpha-Thalassemia (alpha-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. alpha and beta-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 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.CONCLUSIONS:
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Globins
/
Alpha-Thalassemia
Type of study:
Observational_studies
/
Risk_factors_studies
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Mexico
Language:
En
Journal:
Rev Invest Clin
Journal subject:
MEDICINA
Year:
2006
Type:
Article