Fernandes Andrea Cristina, Shimmoto Marily Maria Azevedo, Furuzawa Gilberto Koiti, Vicari Perla, Figueiredo Maria Stella
Disciplina de Hematologia e Hemoterapia, Escola Paulista de Medicina, Universidade Federal de São Paulo, Brazil.
Hemoglobin. 2011;35(4):358-66. doi: 10.3109/03630269.2011.588354.
The various clinical phenotypes in β-thalassemias have stimulated the study of genetic factors that could modify the manifestations of these diseases. We examined 21 patients with β-thalassemia (β-thal) in order to identify some genetic modifying factors: β-thalassemia mutations, HBG2:g.-158C>T polymorphism, α-globin gene deletions and (AT)xNz(AT)y motif within the hypersensitive site 2-locus control region (HS2-LCR). In the 42 alleles analyzed, the most frequent mutations observed were HBB:c.92+6T>C (30.9%), HBB:c.118C>T (16.7%), HBB:c.93-21G>A (11.9%) and HBB:c.92+1G>A (4.8%); this finding is in accordance with previous data of the Brazilian population. The other genetic factors analyzed showed no relation with the severity of the disease. For the first time in Brazil, we report HBB:c.93-2A>G and HBB:c.114G>A mutations on the β-globin gene, both in a heterozygous state. This is also the first study to analyze the HS2-LCR in β-thalassemic individuals in the Brazilian population.
β地中海贫血的各种临床表型激发了对可改变这些疾病表现的遗传因素的研究。我们检查了21例β地中海贫血（β-地贫）患者，以确定一些遗传修饰因素：β地中海贫血突变、HBG2:g.-158C>T多态性、α珠蛋白基因缺失以及超敏位点2-基因座控制区（HS2-LCR）内的(AT)xNz(AT)y基序。在分析的42个等位基因中，观察到的最常见突变是HBB:c.92+6T>C（30.9%）、HBB:c.118C>T（16.7%）、HBB:c.93-21G>A（11.9%）和HBB:c.92+1G>A（4.8%）；这一发现与巴西人群的先前数据一致。分析的其他遗传因素与疾病严重程度无关。在巴西，我们首次报告了β珠蛋白基因上的HBB:c.93-2A>G和HBB:c.114G>A突变，均为杂合状态。这也是首次对巴西人群中β地中海贫血个体的HS2-LCR进行分析的研究。
