CAJ | 학술논문

目的对1个罕见的异常血红蛋白Hb Shaare Zedek家系进行分子诊断,并探讨其临床特征.方法采集该家系3代共7名成员的外周血标本,采用血常规、血红蛋白电泳和血气分析的方法分析临床特征；采用跨越断裂点PCR( gap-PCR)方法和反向点杂交方法检测常见地中海贫血基因突变；采用α、β珠蛋白基因全长测序确定突变位点.结果该家系先证者的血常规结果正常,血红蛋白电泳发现异常血红蛋白带,含量为22.4％(毛细管法),血气分析结果显示氧分压和血氧饱和度较低,分别为72.0 mm Hg(1 mm Hg=0.133 kPa)和93.0％.DNA测序结果显示先证者为Hb ShaareZedek突变杂合子,即alpha1珠蛋白基因第56位氨基酸由赖氨酸突变为谷氨酸.携带有同种突变的其他家系成员的表型与先证者类似,异常血红蛋白带含量为22.4％～23.9％(毛细管法),氧分压和血氧饱和度分别为59.0 ～ 72.0 mm Hg和91.0％～93.0％.结论 Hb Shaare Zedek杂合突变主要表现为异常血红蛋白带,血氧分压和血氧饱和度下降；该突变的发现丰富了中国人的异常血红蛋白谱,可为指导血红蛋白病的临床诊断和遗传咨询提供参考.
목적 대1개한견적이상혈홍단백Hb Shaare Zedek가계진행분자진단,병탐토기림상특정.방법 채집해가계3대공7명성원적외주혈표본,채용혈상규、혈홍단백전영화혈기분석적방법분석림상특정；채용과월단렬점PCR( gap-PCR)방법화반향점잡교방법검측상견지중해빈혈기인돌변；채용α、β주단백기인전장측서학정돌변위점.결과 해가계선증자적혈상규결과정상,혈홍단백전영발현이상혈홍단백대,함량위22.4％(모세관법),혈기분석결과현시양분압화혈양포화도교저,분별위72.0 mm Hg(1 mm Hg=0.133 kPa)화93.0％.DNA측서결과현시선증자위Hb ShaareZedek돌변잡합자,즉alpha1주단백기인제56위안기산유뢰안산돌변위곡안산.휴대유동충돌변적기타가계성원적표형여선증자유사,이상혈홍단백대함량위22.4％～23.9％(모세관법),양분압화혈양포화도분별위59.0 ～ 72.0 mm Hg화91.0％～93.0％.결론 Hb Shaare Zedek잡합돌변주요표현위이상혈홍단백대,혈양분압화혈양포화도하강；해돌변적발현봉부료중국인적이상혈홍단백보,가위지도혈홍단백병적림상진단화유전자순제공삼고.
Objective To diagnose a rare variant Hb Shaare Zedek in a Chinese family,and describe its clinical feature.Methods Blood samples of seven members of three generation were collected.Standard blood routine analysis,hemoglobin electrophoresis and blood gas analysis were used for phenotype analysis.Gap-PCR and reverse dot blot analysis were used to detect common thalassemia mutations.DNA sequence analysis of the human α and β globin genes were used to identify the mutation site of these samples.Results The result of blood routine analysis was normal in the proband,but a abnormal hemoglobin band (22.4％,capillary assay) was found by hemoglobin electrophoresis.In the blood gas analysis,the partial pressure of oxygen and blood oxygen saturation were 72.0 mm Hg ( 1 mm Hg =0.133 kPa) and 93.0％ in the proband.The heterozygous mutations in αl globin gene at codon 56 ( AAG ＞ GAG)which leaded Glu substitution to Lys were identified in the proband.Other family members who carried the same mutation showed similar phenotype,with abnormal hemoglobin band ( 22.4％ - 23.9％,capillary assay),low partial pressure of oxygen (59.0 - 72.0 mm Hg) and blood oxygen saturation (91.0％ -93.0％).Conclusions The heterozygote of Hb Shaare Zedek leads to slight symptoms with abnormal hemoglobin band,decreased partial pressure of oxygen and blood oxygen saturation.Discovery of this mutation enriches the abnormal hemoglobin spetrum of Chinese people,and it is useful for the clinical diagnosis and genetic counseling of hemoglobinopathies.