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为探讨桂西地区HbH病的表型特征及其与基因型关系。分析了125例HbH病的血液学和临床表型,并对其中38例HbH病进行了基因型和表型关系的分析。125例HbH均发现HbH区带,全部病例ξ链阳性;临床上呈小细胞低色素性中度贫血。基因类型以缺失型为主,但非缺失型贫血程度较缺失型重。结论:桂西地区HbH病多表现为不依赖输血的中间型地贫,并有该地区独特的HbH病基因型特点,非缺失型HbH病的临床表现比缺失型严重。
To explore the phenotypic characteristics of HbH disease in western Guangxi and its relationship with genotypes. The hematological and clinical phenotypes of 125 cases of HbH were analyzed. The genotype and phenotype of 38 HbH cases were analyzed. 125 cases of HbH were found HbH zone, all cases of positive ξ chain; clinically small cell hypochromic moderate anemia. The genotypes were mainly deletional, but non-deletional anemia was more severe than deletional. Conclusion: The HbH disease in Guangxi Autonomous Region mostly shows transfusion-free thalassemia intermedia and has the unique genotype of HbH in this area. The clinical manifestations of non-deletional HbH disease are more serious than the deletional type.