Adult Thalassaemia Unit, Hippokration Hospital.
Laboratory of Genetics, Thalassemia National Center of Greece, Laiko General Hospital, Athens, Greece.
J Pediatr Hematol Oncol. 2020 Nov;42(8):e762-e764. doi: 10.1097/MPH.0000000000001730.
Greece is a country of ~11 million people, where hemoglobinopathies are the most common genetic diseases. The reported data describe the clinical phenotype of cases with coinheritance of triplicated α-globin (anti-α3.7 kb) and β-globin gene mutations in Northern Greece, that were referred within the last 10 years, in The Adult Thalassemia Unit of "Hippokration" Hospital, Thessaloniki, Northern Greece. The description of specific genotypes of the β-globin gene mutations in coinheritance with the triplicated α-globin gene (anti-α3.7 kb) and correlation with the hematologic and clinical data in adulthood may be useful in the evaluation of pediatric patients' prognosis and in genetic counseling of couples at risk.
希腊是一个拥有约 1100 万人口的国家，其中血红蛋白病是最常见的遗传疾病。报告的数据描述了在过去 10 年内，希腊北部塞萨洛尼基“希波克拉底”医院成人地中海贫血单位转诊的，同时患有三倍α-珠蛋白（抗-α3.7kb）和β-珠蛋白基因突变的病例的临床表型。三倍α-珠蛋白基因（抗-α3.7kb）与β-珠蛋白基因突变的特定基因型的共同遗传，并与成年时的血液学和临床数据相关联，这可能有助于评估儿科患者的预后，并为有风险的夫妇提供遗传咨询。
