alpha-Thalassemia: Genotypic Profile Associated with Ethnicity and Hematological Differentiation of Iron Deficiency Anemia in the Region of Uberaba, Minas Gerais, Brazil

作者：Volpe de Souza Renata A; Carlos Aline Menezes; Bereta de Souza Bruna M; Rodrigues Cibele Velloso; Pereira Gilberto de Araujo; Moraes Souza Helio^*

来源：Hemoglobin, 2015, 39(4): 264-269.

DOI：10.3109/03630269.2015.1037890

• alpha-Thalassemia (alpha-thal)
• ethnic groups
• genotype
• red blood cell (RBC) count

alpha-Thalassemia (alpha-thal) is a hereditary hemoglobinopathy characterized by microcytic anemia due to impaired production of alpha chains of human globin. Brazilian studies show that the most common genotype is an -alpha(3.7) deletion with the loss of one or two alpha genes. As the production of alpha chains is not as accentuated in these cases, the correct diagnosis can only be achieved through molecular analysis that is not usually routinely performed by laboratories. We investigated the occurrence of alpha-thal babies born between September 2011 to January 2013 at the hospital of the Universidade Federal do Triangulo Mineiro (UFTM), Uberaba, Brazil, and blood donors of the Uberaba Regional Blood Center, Hemominas Foundation, Uberaba, Brazil, correlating it with ethnicity and differences between hematological parameters of donors, alpha-thal and iron deficiency patients. alpha-Thalassemia was investigated for the most common deleted alleles (-alpha(3.7), -alpha(4.2), --(SEA), --(FIL), --(THAI), -(alpha)(20.5) and --(MED)). The incidence in newborns was 13.16% with a predominance of heterozygosity for the -alpha(3.7) genotype (12.35%), followed by the -alpha(3.7)/-alpha(3.7) (0.46%) and alpha alpha/alpha(4.2) genotypes (0.35%). In blood donors, the prevalence of alpha-thal was 14.89%, with all cases being heterozygous for the -alpha(3.7) deletion. There was an association of the alpha-thal genotype with African ancestors for both groups, thereby confirming published data and showing the strong influence of Blacks on the composition of the population of Brazil's southeastern region. Minor changes were found between hematological parameters of blood donors with iron deficiency and alpha-thal that did not contribute to the differential diagnosis between the two types of anemia.

• 出版日期2015