Abstract
Hemoglobinopathies are the most common recessive diseases worldwide. While the molecular basis of β-thalassemia in Rosario has been addressed, that of α-thalassemia and α structural alterations, has not. In this study 105 individuals from different families referred to our center were investigated for alpha hemoglobinopathies because of low MCV (<85 fL), low MCH (<27 dg), normal HbA2 (≤3.5%) and transferrin saturation of >15%. Six of them with a clinical phenotype of thalassemia intermedia were diagnosed as Hb H disease (five cases) and Hb H like (one case). It also included one patient with sickle cell trait, confirmed by hematological and molecular studies. We were able to identify alpha globin genes mutations in 92 individuals (87.6%): 88 patients with alpha thalassemia, 3 patients with structural alterations and one with both. In total, 13 individuals (12.4%) had no identified α-globin mutation. This study is the first to deal with the molecular basis of α-hemoglobinophaties in Rosario.
Highlights
South America, where in evolutionary terms malaria was introduced only relatively recently.[2]
The current Argentinian population was formed by successive migratory waves
13 individuals (12.4%) had no identis fied α-globin mutation. u Among the 89 individuals with α-thal l (88 α-thal and one with α-thal and α structural alteration), a total of 103 α-thal haploia types were characterized, the most frequent c among them was the -α3.7 mutation conr tributing to 73,8 % of the studied alleles, e followed by the -(α)[20,5] (6.8%), —MED-I
Summary
South America, where in evolutionary terms malaria was introduced only relatively recently.[2]. While u the molecular basis of b-thalassemia in Rosario has been addressed, that of α-thal lassemia and α structural alterations, has ia not. Six of them with a clinical phenotype of thalassemia intermem dia were diagnosed as Hb H disease (five o cases) and Hb H like (one case). It c included one patient with sickle cell trait, confirmed by hematological and molecular n studies. N lassemia, 3 patients with structural altermigratory waves of Europeans occurring in the 19th and 20th centuries, mainly from Italy and Spain.[3]. In our country we can identify three moments of influx of Chinese immigrants. The first was between 1914 and 1949, the second from 1978 and in the early years of the 80s and the last flow of Chinese immigrants came from 1990 to about 1999
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