云南省德宏地区HbH病基因型及血液表型分析

Genotypic and phenotypic analysis of HbH disease in Dehong region,Yunnan Province

目的探讨云南省α地中海贫血流行区血红蛋白H(HbH)病患者的基因型及其血液表型特点。方法采用PCR-流式荧光杂交法确定云南省德宏地区358例HbH病患者的基因型,采用血常规分析获取血液学表型,并对各血液学指标进行统计学分析。结果358例HbH病患者共检出缺失型269例,占75.1%,其中包括--SEA/-α3.7基因型261例,--SEA/-α4.2基因型8例。检出非缺失型89例,占24.9%,包括--SEA/αCSα基因型88例,--SEA/αWSα基因型1例。HbH病非缺失型与缺失型相比,血红蛋白含量(Hb)显著降低(P<0.05),红细胞平均体积(MCV)、平均血红蛋白量(MCH)显著增高(P<0.05)。HbH病患者的血液表型以中度贫血为主,其中女性的中至重度贫血比例高于男性;儿童组的中重度贫血比例随年龄升高而降低。结论云南省德宏地区HbH病基因型以缺失型为主,非缺失型具有更严重的贫血表现,HbH病对女性及低龄儿童产生的危害更为严重。

Objective To investigate the genotypes and phenotypes of HbH disease in Dehong region,Yunnan Province,China.Methods The common alpha-and beta-thalassemla mutations were detected by PCR-flow fluorenscence immunmicrobeads assay;the hematological manifestation was obtained by routine blood test.Results Among the 358 patients with HbH disease,four common genotypes were identified,which were 261 cases of--SEA/-α3.7,88 cases of--SEA/αCSα,8 cases of--SEA/-α4.2,and 1 case of--SEA/αWSα.Compare to deletional HbH,the non-deletional HbH had lower levels of hemoglobin(Hb),and higher levels of mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH).The majority of HbH Patients presented moderate anemia,and the proportion of moderate to severe anemia in women was higher than that of men.In children group,the proportion of moderate and severe anemia decreased as age increased.Conclusion Deletional genotype is dominant in HbH disease in Dehong region.Non-deletional HbH presents severer anemia than deletional type.The harm of HbH disease to women and young children is even more serious.