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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。
Objective To analyze the clinical manifestations and hematological parameters of hemoglobin Quong Sze (Hb QS) and discuss the clinical and hematological characteristics of Hb QS. Methods Patients in the First Affiliated Hospital of Guangxi Medical University were selected. Hb analysis was performed by high performance liquid chromatography. Mutation analysis of thalassemia gene was performed by dot blot hybridization and multiplex PCR. Statistical analysis was performed using SPSS 13.0 statistical software. Results Among 9 176 cases, 50 cases of Hb QS heterozygote (including 8 cases of complex β thalassemia) and 30 cases of HbH-QS were detected. Hb QS heterozygotes showed no clinical symptoms and Hb analysis showed no abnormalities. The blood routine tests showed that the mean hematocrit of 42 HbQS heterozygotes (MCV) was (73.72 ± 3.57) fL and that of 8 patients with complex β thalassemia was (63.06 ± 4.59) ) fL; 45 cases of Hb normal, 5 cases of Hb slightly lower than the normal range. The clinical manifestations of HbH-QS disease vary in severity, most of them have moderate to severe anemia and need occasional blood transfusions, and a small percentage of them show mild anemia. Hematology tests are small cell hypochromic anemia. Hb analysis shows that Hb H is (26.32 ± 8.61)%. Conclusions Hb QS heterozygotes have a hematologic characteristic with reduced MCV, which is the first report. Prompted in high thalassemia areas, when blood tests only MCV reduction should consider the possibility of Hb QS heterozygotes confirmed by genetic analysis. The clinical manifestations of HbH-QS are diverse and need to be explained in genetic counseling.