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目的 分析广西地区血红蛋白 (hemoglobin,Hb) H病的基因型 ,了解其表型与基因型的相互关系。方法 对 2 98个病例进行血液学分析、血红蛋白分析 ,及用聚合酶链反应方法和 DNA测序确诊基因突变。结果 在 2 98例 Hb H病患者中发现 1例罕见的 Hb H病。患者为男性 ,2 5岁。自幼有黄疸、脾肿大 ,从未输过血。血液学分析示血红蛋白 10 7g/ L,RBC4 .9× 10 1 2 / L,MCV76 .2 fl,血红蛋白分析 Hb H+Hb Bart’s34.4 1%。基因分析证实其为 α2珠蛋白基因密码子 30缺失复合东南亚缺失型 α地中海贫血 - 1。结论 我国曾报道的非缺失型 Hb H病主要有 Hb CS- H,Hb QS- H及 α2珠蛋白基因密码子 31基因突变复合东南亚缺失型 α地中海贫血 - 1,临床上表现为中至重度贫血的非缺失型 Hb H病。与之不同的是 ,该患者无贫血 ,但 Hb H+Hb Bart’s水平高于上述疾病。此基因突变在 α地中海贫血高发区之一的广西地区的认识和发现 ,对该地区的遗传咨询和产前诊断具有重要意义。
Objective To analyze the genotypes of hemoglobin (Hb) H in Guangxi and to understand the relationship between phenotypes and genotypes. Methods Hematological analysis, hemoglobin analysis, and polymerase chain reaction (PCR) and DNA sequencing were used to confirm the gene mutation in 198 cases. Results A rare case of Hb H disease was found in 2 98 Hb H patients. The patient is male, 25 years old. Jaundice since childhood, splenomegaly, never lost blood. Hematology analysis showed hemoglobin 10 7g / L, RBC4. 9 × 10 1 2 / L, MCV76 .2 fl, hemoglobin analysis Hb H + Hb Bart’s 34.4 1%. Gene analysis confirmed that the codon for α2 globin gene 30 deletion was missing in SEA-deficient α-thalassemia-1. Conclusions Our country has reported non-deletion type Hb H disease mainly Hb CS-H, Hb QS-H and α2 globin gene codon 31 gene mutation combined with Southeast Asian missing α thalassemia-1, the clinical manifestations of moderate to severe anemia Of non-deletion type Hb H disease. In contrast, the patient had no anemia, but Hb H + Hb Bart’s levels were higher than those indicated above. This gene mutation in the high incidence of α-thalassemia in Guangxi area of awareness and discovery, genetic counseling and prenatal diagnosis of the region is of great significance.