罕见的血红蛋白H病同时合并异常血红蛋白Q和E家系分析  

Hemoglobin H disease combining hemoglobin Q-thailand and hemoglobin E disease:a clinical and laboratory genealogical research

作　　者：陈和平[1] 郑卫东[1] 陈冬[1] 葛艳芬[1] 陈澍英[1] 黄志新[1] 叶瑞兴[1] 荣卡彬[1] 

机构地区：[1]广东省人民医院病理医学部检验科,广州510080

出　　处：《中华检验医学杂志》2007年第4期427-432,共6页Chinese Journal of Laboratory Medicine

摘　　要：目的对广州市一个罕见的血红蛋白 H 病同时合并异常血红蛋白 Q 和 E 家系进行分析。方法采用美国 HELENA 公司全自动快速电泳分析系统测定血红蛋白(Hb)各种区带定量;同时进行异常 Hb 各项测定,包括吸收光谱试验、C 结晶试验、溶解度试验、异丙醇试验、连二硫酸钠过筛试验、血红蛋白肽链裂解试验。首证者做了骨髓检查;4例均做外周血红细胞形态检查、常规血液检查、红细胞温育脆性试验、高铁血红蛋白还原试验、G6PD/6PGD 酶比值法(紫外法)测定;α-THAL基因检测:多重 PCR 检测α-THAL 基因缺失;β-THAL 基因检测:DNA 芯片反向点杂交(RDB)检测中国人较常见的18种β—THAL 基因,鉴定β—THAL 基因突变类型。结果父亲的α-THAL 基因型:α~Qα^(4.2)/αα;β—THAL 基因型:β~E/N;表现型:轻型β-THAL 携带者合并异常 HbQ 和异常 Hb E 多重杂合子;母亲的α-THAL 基因型:α/--^(SEA/);β-THAL 基因型:βN/βN。根据综合分析,母亲的表现型:轻型α-THAL 复合轻型β-THAL 携带者同时合并异常 Hb F 持续增高症(HPFH)。首证者的α-THAL基因型:α~Qα^(4.2)/--^(SEA);表现型:缺失型 Hb H-Q 病;β-THAL 基因型:βEM/βEM;表现型:βE纯合子。根据综合分析,为缺失型异常 Hb H 合并异常 Hb Q 和异常 Hb E 多重杂合子。其弟的α-THAL基因型:α~Qα^(4.2)/--^(SEA);β-THAL基因:BN/BN;表现型:缺失型异常 Hb H 病。母亲及其小儿子均同时合并 G6PD 缺陷。结论广东省是α-THAL 和β-THAL、异常 Hb E 和异常 Hb Q 以及 G6PD 缺乏症的发高区,从地域异常 Hb 的高发率上,Hb E 和 Hb Q 是可能存在某种关联性,但是在非同源染色体上两种类型的异常 Hb 同时合并 Hb H 病在一个个体上,实为罕见。本研究提示对其配偶的婚前检查尤为必要。Objective To investigate clinically and in laboratory a genealogical tree with hemoglobin H disease Combining Hemoglobin Q-Thailand and Hemoglobin E Disease. Methods Genealogical laboratory studies were carried out with the following methods： hemoglobin eleetrophoresis, various biochemical determinations, and DNA analysis. Results Father＇s genotype of α-THAL：αα/α^Qα^4.2 ; genotype of β-THAL： βE/N; phenotype： minor β-THAL carder combining Hb Q and Hb E multiple heterozygote;mother＇s genotype of α-THAL： - -^SEA/αα; genotype of β-THAL： βn/βn. According to comprehensive analysis, mother＇s phenotype ： minor α-THAL, complex minor β-THAL cartier combining Hb F ？ Initial sign of α-THAL genotype ： - - ^SEA/α^Qα^4.2 ; phenotype ： deletion type Hb H genotype disease; β- THAL genotype： βE / βE ; phenotype： β E homozygote. According to comprehensive analysis： deletion type Hb H combining HbE multiple heterozygote. Youger brother＇s α-THAL genotype： - -α/α^Qα^4.2 ; β-THAL genotype：βn/βn;phenotype： deletion type Hb H disease. Both mother and her youngest son have G6PD deficiency. Conclusions Guangdong Province is an area with high morbidity of α-THAL and β-THAL, Hb E and Hb Q as well as G6PD deficiency. There may be some correlation between Hb E and Hb Q in term＇s of the high morbidity of regional Hb,but the two types of Hb combining Hb H disease are rare in China and the world in point of nonhomologous chromosome. Attention should be paid to the problems of double heterozygote of α-THAL complex β-THAL, and THAL complex G6PD deficiency. Data from the study have enriched the scientific information of molecular genetics of erythrocyte thalassemia and of molecular pathology with important significance in genetics guidance and clinical treatment for patients.

关 键 词：血红蛋白类 异常 血红蛋白H Α-地中海贫血 

分 类 号：R55[医药卫生—血液循环系统疾病]