Charoenkwan Pimlak, Teerachaimahit Pimjan, Sanguansermsri Torpong
Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Chiang Mai University , Chiang Mai , Thailand.
Hemoglobin. 2014;38(5):335-8. doi: 10.3109/03630269.2014.952744. Epub 2014 Sep 19.
Clinical severity assessment and molecular analysis of β-, α-globin genes and the -158 (C > T) XmnI polymorphism of the (G)γ-globin gene were performed in 80 pediatric patients with Hb E (HBB: c.79G > A)/β-thalassemia (β-thal) to investigate the effects of coinheritance of α-thalassemia (α-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 β-thal mutations were identified. All were β⁰ or severe β⁺ mutations. Five patients (6.3%) had coinherited α⁰-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 α-thal (p = 0.025), but was not different among the groups with or without the XmnI polymorphism (p = 0.071). This study demonstrates that coinheritance of α⁰-thal alleviates the degree of disease severity in Hb E/β-thal. All our patients with coinherited α⁰-thal have mild disease.
对80例Hb E（HBB：c.79G＞A）/β地中海贫血（β-地贫）患儿进行临床严重程度评估以及β-、α-珠蛋白基因和（G）γ-珠蛋白基因-158（C＞T）XmnI多态性的分子分析，以研究α地中海贫血（α-地贫）和其他分子决定因素的共同遗传对其临床严重程度的影响。平均年龄为9.4±5.1岁。根据临床严重程度评分，分别有35例（43.8%）、27例（33.8%）和18例（22.5%）患有中度、轻度和重度疾病。鉴定出9种β-地贫突变。均为β⁰或重度β⁺突变。5例患者（6.3%）共同遗传了α⁰-地贫。所有5例患者病情均较轻，基线血红蛋白（Hb）值为7.9±1.5g/dL，有轻度肝脾肿大且生长接近正常。仅1例需要红细胞输血。有或无α-地贫的组间疾病严重程度有显著差异（p = 0.025），但有或无XmnI多态性的组间无差异（p = 0.071）。本研究表明，α⁰-地贫的共同遗传可减轻Hb E/β-地贫的疾病严重程度。我们所有共同遗传α⁰-地贫的患者病情均较轻。
