【摘要】 目的:对广东省湛江地区血红蛋白H病(Hb H病)进行基因分析,了解其基因突变类型及临床特征。方法:采用血常规、血红蛋白分析、Gap-PCR及荧光PCR熔解曲线法、DNA测序等方法对Hb H病进行基因分析。结果:83例Hb H病患者中检出73例缺失型Hb H病(88.0%),包括--SEA/-α3.7 51例,--SEA/-α4.2 22例。检出10例非缺失型Hb H病(12%),包括--SEA/αCSα7例,--SEA/αQSα1例,--SEA/αPoly Aα2例。非缺失型Hb H病血常规结果显示,红细胞计数(RBC)、血红蛋白(Hb)及平均红细胞血红蛋白浓度(MCHC)的平均水平比缺失型Hb H病低,非缺失型Hb H病的Hb H平均水平比缺失型Hb H病的高,差异均有统计学意义(P<0.05)。结论:湛江地区Hb H病基因类型以缺失型为主,其中--SEA/-α3.7最多见,--SEA/-α4.2次之。非缺失型Hb H病比缺失型Hb H病的贫血严重,非缺失型Hb H病比缺失型Hb H病的Hb H含量高。首次在广东地区发现--SEA/αPoly AαHb H病,临床上有中度贫血。更多还原

【Abstract】 Objective: To analyze the genotypes and clinical features of hemoglobin H( Hb H) disease in Zhanjiang,Guangdong.Methods: The genotypes were analyzed by blood routine analysis,hemoglobin( Hb) electrophoresis,gapPCR,fluorescence quantitative PCR and DNA sequencing.The data were processed by SPSS 22.0 statistical software.Results: Among 83 cases with Hb H disease,73 cases were detected as deletional Hb H disease,accounted for 88.0%.Their genotypes included--SEA/-α3.7( 51 cases) and--SEA/-α4.2( 22 cases).While 10 cases were detected as nondeletional Hb H disease,accounted for 12%.The non-deletional genotypes were as follows: 7 cases with--SEA/αCSα,1 case with--SEA/αQSα,2 cases with--SEA/αPoly Aα. The results of blood analysis showed that RBC,Hb and MCHC level in non-deletional Hb H disease were lower than those in deletional Hb H disease( P<0.05).The results of Hb analysis showed that Hb H level in patients with non-deletional Hb H disease was higher than that in deletional Hb H disease patients( P<0.05).Conclusion: There were various genotypes of Hb H disease in Zhanjiang area.The common genotypes were deletional Hb H disease,in which the genotypes of--SEA/-α3.7 were most common.Non-deletional Hb H disease was much more anemia than deletional Hb H. The Hb H level in non-deletional Hb H disease was higher than those in deletional Hb H disease.--SEA/αPoly Aα genotype was first reported in Guangdong province,which had intermediate anemia.更多还原