Jindadamrongwech S, Wisedpanichkij R, Bunyaratvej A, Hathirat P
Blood Disease Diagnostic Center, Sirikit Medical Center, Thailand.
Southeast Asian J Trop Med Public Health. 1997;28 Suppl 3:97-9.
Eighty-five patients who attended at Ramathibodi Hospital during November 1994 to June 1996 were investigated for thalassemia genotype, hemoglobin (Hb) typing and blood cell parameters. All patients were screened primarily for complete blood count using the Technicon H*3 automated hematology analyzer and Hb typing using the automated HPLC. Their genotypes were evaluated by in vitro gene amplification using primers for detection of common alpha-thalassemic genes found in the Thai population. We found 45 cases out of 85 were alpha-thalassemia trait with A2A typing, 10 were normal, 7 were alpha-thalassemia trait complicated by beta-thalassemia trait or HbE trait, 18 were HbH disease or HbH with Hb Constant Spring (HbH/CS), and 5 were AE Bart's disease. The alpha-thalassemia 1 trait had heterogeneity in red cell population as shown by increased red cell distribution width (RDW), the increased percent microcytic red cell (%Micro) and decreased mean cell volume (MCV). Red cell parameters in alpha-thalassemia 2 trait and HbCS trait were not significantly different from normal. The cases with coinheritance of alpha-thalassemia trait with beta-thalassemia trait or with HbE trait showed variation in their red cell parameters: one case showed less abnormal red cell parameters than those of uncomplicated alpha-thalassemia but the other two cases showed unimproved values. The homozygous alpha-thalassemia 2 showed similar red cell parameters to the alpha-thalassemia 1 trait. In conclusion, we can screen the alpha-thalassemia 1 trait and homozygous alpha-thalassemia 2 by using the simple red cell parameters such as the MCV and RDW; however, they must be confirmed for alpha-thalassemic genes. Unfortunately, red cell parameters of alpha-thalassemia 2 trait or HbCS trait were not different from those of normal subjects.
1994年11月至1996年6月期间在拉玛蒂博迪医院就诊的85例患者接受了地中海贫血基因型、血红蛋白(Hb)分型及血细胞参数的调查。所有患者首先使用Technicon H*3自动血液分析仪进行全血细胞计数筛查,并使用自动高效液相色谱法进行Hb分型。采用针对泰国人群中常见的α地中海贫血基因检测的引物,通过体外基因扩增评估其基因型。我们发现,85例患者中45例为A2A分型的α地中海贫血特征,10例正常,7例为合并β地中海贫血特征或HbE特征的α地中海贫血特征,18例为HbH病或伴血红蛋白Constant Spring(HbH/CS)的HbH,5例为血红蛋白Bart's胎儿水肿综合征。α地中海贫血1特征在红细胞群体中具有异质性,表现为红细胞分布宽度(RDW)增加、小红细胞百分比(%Micro)增加及平均红细胞体积(MCV)降低。α地中海贫血2特征和HbCS特征的红细胞参数与正常情况无显著差异。α地中海贫血特征与β地中海贫血特征或HbE特征共遗传的病例,其红细胞参数存在差异:1例红细胞参数异常程度低于单纯α地中海贫血,但另外2例未见改善。纯合子α地中海贫血2的红细胞参数与α地中海贫血1特征相似。总之,我们可以使用MCV和RDW等简单的红细胞参数筛查α地中海贫血1特征和纯合子α地中海贫血2;然而,必须通过α地中海贫血基因进行确诊。遗憾的是,α地中海贫血2特征或HbCS特征的红细胞参数与正常受试者无差异。