异常血红蛋白Hb J-Bangkok的分子诊断及血液学特征分析

目的分析基因检测为异常血红蛋白Hb J-Bangkok患者的血液学特征。方法采集9例经血红蛋白电泳筛查为Hb J带患者的外周血标本进行血常规检测和血红蛋白电泳检测;采用液相芯片检测和基因测序方法检测患者的基因型。结果9例患者均检出β珠蛋白基因c.170 G>A突变(codon 56 GGC>GAC),为异常血红蛋白Hb J-Bangkok;其红细胞参数指标中血红蛋白含量(Hb)、平均红细胞体积(MCV)和平均血红蛋白含量(MCH)正常或轻度异常;5例红细胞参数完全正常;1例血红蛋白筛查Hb A2(1.9%)降低,其他红细胞参数略有降低,基因芯片检测结果为(αQSα/)杂合突变;1例Hb和MCV均降低,血清铁蛋白(FER)降低;1例Hb较低(103 g/L),其他红细胞参数正常;1例血红蛋白轻度降低(114 g/L),其他血液学指标正常,其测序结果为β珠蛋白基因c.170 G>A纯合突变(homo codon 56 GGC>GAC)。结论单纯的Hb J-Bangkok杂合子或纯合子对临床血液学影响不明显,但合并其他血液学疾病时其红细胞参数多可改变。

Molecular diagnosis and hematological characteristics of abnormal hemoglobin J-Bangkok

Objective To analyze the hematological characteristics of the patients with confirmed Hb J-Bangkok by gene sequencing.Methods The peripheral blood samples from 9 patients with Hb J bands in the screening of hemoglobin electrophoresis were collected for routine blood tests and the detection of hemoglobin electrophoresis.The genotypes of the patients were detected by the liquid chip and gene sequencing.Results The mutation ofβglobin gene c.170 G>A(codon 56 GGC>GAC)was detected in all of 9 patients,which led to the occur of abnormal Hb J-Bangkok.In these patients,the parameters of red blood cells(RBC),including hemoglobin content(Hb),mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH),were normal or slightly abnormal.The parameters of RBC were completely normal in 5 patients.In one patient,Hb A2(1.9%)decreased,other RBC parameters decreased slightly,and the result of the gene chip detection showed the heterozygous mutation ofαQSα/αα.In one patient,Hb,MCV and serum ferritin(FER)decreased.In one patient,Hb(103 g/L)decreased and other hematological parameters were normal.In another patient,Hb(114 g/L)was slightly reduced,other hematological parameters were normal,and the sequencing result showed the homozygous mutation ofβglobin gene c.170 G>A(Homo codon 56 GGC>GAC).Conclusion The simple Hb J-Bangkok heterozygote or homozygote has no obvious effect on clinical hematology,but its RBC parameters can be changed when combined with other hematology diseases.