血红蛋白QuongSze的临床研究

目的分析血红蛋白Quong Sze(Hb QS)的临床表现及血液学参数,探讨Hb QS的临床及血液学特点。方法选择在广西医科大学第一附属医院就诊的患者。对病例进行血常规检查;应用高效液相法进行Hb分析;应用反向点杂交、多重PCR进行珠蛋白生成障碍性贫血(地贫)基因突变分析;应用SPSS 13.0统计软件对数据进行统计分析。结果 9 176例病例中,检出Hb QS杂合子50例(其中8例复合β地贫)及HbH-QS病30例。Hb QS杂合子无临床症状,Hb分析未见异常,其血常规检测显示42例HbQS杂合子平均红细胞容积(MCV)为(73.72±3.57)fL,8例复合β地贫MCV为(63.06±4.59)fL;45例Hb正常,5例Hb稍低于正常值范围。HbH-QS病的临床表现轻重不等,大部分中度至重度贫血,需要不定期输血治疗,少部分表现为轻度贫血;血液学检测为小细胞低色素性贫血;Hb分析显示Hb H为(26.32±8.61)%。结论 Hb QS杂合子具有MCV降低的血液学特征,为首次报道。提示在地贫高发区,当血常规检测仅有MCV降低时应考虑Hb QS杂合子的可能,通过基因分析确诊。HbH-QS病临床表现具有多样性,需在遗传咨询中予以解释说明。

Clinical Research on Hemoglobin Quong Sze

Objective To investigate clinical and hematological characteristics of hemoglobin Quong Sze(Hb QS).Methods Cases admitted to the First Affiliated Hospital of Guangxi Medical University were subjects in this study.Hematological examination and Hb analysis by high performance liquid chromatograph were performed.Genotypes were analyzed by reverse dot blot hybridization and multiplex polyme-rase chain reaction.The data were processed by SPSS 13.0 statistical software.Results Eighty cases carried Hb QS gene were identified from 9 176 patients.Among 80 cases,there were 50 cases of heterozygote,while 8 cases of co-inherited with β-thalassemia;another 30 cases were HbH-QS disease.Hb QS heterozygote had no clinical symptoms and the Hb analysis were normal.The hematologic examination showed mean MCV were(73.72±3.57) fL in the cases of 42 heterozygote and(63.6±4.59) fL for those 8 cases co-inherited with β-thalassemia.Forty-five heterozygote of Hb QS had normal Hb value and 5 cases had mild anemia.The clinical manifestations of 30 cases of HbH-QS disease were different.Most of them showed moderate to severe anemia,requiring blood transfusion occasionally,but some had mild anemia.Haematology analysis for HbH-QS diseases showed microcytic hypochromic anemia.Hb analysis showed mean Hb H level was(26.32±8.61)%.Conclusions This is the first report about hematological feature of Hb QS heterozygote with low MCV.It is suggested if MCV is lower than normal value,it should be considered the possibility of Hb QS heterozygote,especially in the area where the thalassemia is common.Genotyping can be helpful for diagnosis.HbH-QS disease has different clinical phenotype and should be given genetic counseling.