The Correlation of alpha-Globin Gene Mutations and the Xmnl Polymorphism with Clinical Severity of Hb E/beta-Thalassemia

作者：Charoenkwan Pimlak^*; Teerachaimahit Pimjan; Sanguansermsri Torpong

来源：Hemoglobin, 2014, 38(5): 335-338.

DOI：10.3109/03630269.2014.952744

• alpha-Thalassemia (alpha-thal)
• beta-thalassemia (beta-thal)
• genotype-phenotype correlation
• Hb E
• northern Thailand
• Xmnl polymorphism

Clinical severity assessment and molecular analysis of beta-, alpha-globin genes and the 158 (C%26gt;T) Xmnl polymorphism of the (G)gamma-globin gene were performed in 80 pediatric patients with Hb E (HBB: c.79G%26gt;A)/beta-thalassemia (P-thal) to investigate the effects of coinheritance of alpha-thalassemia (a-thal) and other molecular determinants on their clinical severity. The mean age was 9.4 5.1 years. By using clinical severity score, 35 (43.8%), 27 (33.8%) and 18 cases (22.5%) had moderate, mild and severe disease, respectively. Nine beta-thal mutations were identified. All were 11 or severe 13! mutations. Five patients (6.3%) had coinherited alpha-thal. All five patients had mild disease with baseline hemoglobin (Hb) values of 7.9 1.5 g/dL, mild hepatosplenomegaly and close-to-normal growth. Only one required a red blood cell transfusion. The disease severity was significantly different among the groups with and without alpha-thal (p = 0.025), but was not different among the groups with or without the Xmnl polymorphism (p = 0.071). This study demonstrates that coinheritance of a -thal alleviates the degree of disease severity in Hb E/P-thal. All our patients with coinherited a -thal have mild disease.

• 出版日期2014