摘要
目的研究桂北地区HbH病患儿的基因谱特点及不同基因型HbH病的血液学参数特点。方法根据临床表现、血细胞学检测、血红蛋白电泳确诊HbH病患儿166例,均来自桂北地区。Multi-PCR和PCR-反向斑点杂交确定基因型,对于经常规基因检测不能确诊的基因突变,采用直接DNA测序法。结果 166例确诊为HbH病的患儿中,共检出8种基因型,其中--SEA/-α3.782例,--SEA/-α4.240例,--SEA/αCSα38例,--SEA/αQSα1例,--SEA/αWSα1例,--SEA/αCD43/44(-C)α1例,--SEA/-α3.7复合CD17(A→T)1例,--SEA/-α4.2复合CD41-42(-TTCT)1例,另有1例为--SEA与未知基因突变的双重杂合子。实际可分析血液学参数的HbH病患儿有134例,其中2例Hb在正常范围,36例轻度贫血,90例中度贫血,6例--SEA/αCSα因合并感染而呈重度贫血;69例--SEA/-α3.7患儿Hb为62~120 g/L,31例--SEA/-α4.2患儿Hb为69~127 g/L,34例--SEA/αCSα患儿Hb为34~110 g/L。非缺失型HbH病组(基因型--SEA/αCSα)Hb低于缺失型HbH病组(基因型--SEA/-α3.7和--SEA/-α4.2)(P<0.05),MCV含量高于缺失型HbH病组(P<0.05)。结论桂北地区HbH病患儿基因谱丰富,以缺失型HbH病为主,并有明显的遗传异质性;非缺失型HbH病患儿的贫血程度较缺失型HbH病组重,但MCV值较缺失型HbH病组高。
Objective To study the characteristics of genotype spectrum and hematologic parameters in children with HbH disease in the North Guangxi region. Methods HbH disease was identified by clinical manifestations, routine blood tests and hemoglobin electrophoresis in 166 children who came form the North Guangxi region. Genotypes were determined by Muhi-PCR combined with PCR reverse dot blot. DNA sequencing was used when the genotype could not be identified by regular methods. Results Of the 166 children with HbH disease, 8 genotypes were identified: --SEA/α3.7 (82 cases), --sES/α4.2 (40 cases) , --SEA/orcs (X ( 38 cases) , --SEA/αQS (X ( 1 case) , --SEA/αWS α ( 1 case) , -SEA// CD43/44(-C)α (1 case),--SEA/α 3.7 plus CD17 (A-T) (1 case)and--SEA/-α4.2 plus CD41-42(-TTCT) (1 case). One case was confirmed as the heterozygote of __SEA and an unknown mutation. In the 134 cases with complete medical data, 2 had normal hemoglobin levels, 36 manifested mild anemia, 90 manifested moderate anemia, and 6 (genotype: --SEA/αCSα ) showed severe anemia because of the coexistence of infection. Children with the genotype of --SEA//α3.7 (69 ca,α ) , --SEA/-α4.2 (31 cases) and --SEA/αcsα (34 cases) had hemoglobin levels of 62-120, 69-127 and 34-110 g/L respectively. The hemoglobin level in the --SEA/αCS(x group was significantly lower than in the deletional HbH disease group (genotypes: -SEA/-α3.7 and --SEA/-α4.2 ) (p 〈 0.05). In contrast, MCV levels in the --SEA/αCSα group were significantly higher than in the deletional HbH disease group ( P 〈 0.05 ). Conclusions The genotype spectrum of HbH disease is diverse in the North Guangxi region. Deletional genotype is prevalent. The disease is heterogeneous. The children with --SEA/αCSα HbH disease have severer anemia and higher MCV levels than those with deletional HbH disease.
出处
《中国当代儿科杂志》
CAS
CSCD
北大核心
2012年第4期267-270,共4页
Chinese Journal of Contemporary Pediatrics