β地贫CD41-42突变杂合子复合缺失型α地贫双重杂合子的基因检测与血液学分析  

Gene detection and hematological analysis of β-thalassemia CD41-42 heterozygote compound deletional α- thalassemia

作　　者：曾劲伟[1] 区丽群[1] 洁甜[1] 杨光[1] 

机构地区：[1]佛山市第一人民医院临床医学研究所,广东528000

出　　处：《中国优生与遗传杂志》2004年第6期21-22,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的　了解 β地中海贫血 (地贫 )CD4 1- 4 2 (-TCTT)杂合子 (β4 1- 4 2杂合子 )复合缺失型α地贫双重杂合子在本地区β4 1- 4 2杂合子个体中的检出情况及其临床血液学表现。方法　分别采用单管多重PCR与反向点杂交法检测缺失型α地贫与 β地贫基因 ,常规进行血细胞分析及其它地贫筛查试验。结果　 14 4例 β4 1- 4 2杂合子有 8例同时复合缺失型α地贫杂合子 ,其中 7例 (4.9% )携带有α地贫 1基因 (αα/- - SEA) ,1例 (0 .6 9% )携带有缺失型HbH基因 (-α3 .7/- - SEA)。 7例复合α地贫 1患者的MCV均都高于另外 136例单纯的 β4 1- 4 2杂合子的MCV平均值 (6 3.5 3fl) ;而对携带有HbH基因的样本进行pH8.6与 6 .5的血红蛋白电泳时都无法找到HbH区带。结论　诊断 β4 1- 4 2杂合子复合α地贫双重杂合子的患者时 ,如只依赖其临床表现和常规的实验室检查结果作为筛查诊断的指标 ,容易会出现有病患的α或 β地贫基因漏诊的情况。Objective: To investigate the prevalence and analyze the clinical hematological data of β-thalassemia(β-thal) CD41-42 (-TCTT) heterozygote(β41-42 heterozygote) compound deletional α-thal in this area. Methods: α-thal genes and β-thal genes were detected by single-tube complex PCR and reverse dot blotting(RDB), respectively. The analysis of blood corpuscle and the other thal screening tests were generally used. Results : 8 cases were identified to compound with α-thal in 144 β 41-42 heterozygote cases, including 7 cases (4.9%) compound α-thal-1(αα/-- SEA ) and 1 case(0.69%) compound deletional HbH gene(-α 3.7 /-- SEA ). The MCV of the 7 cases compoundα-thal-1 were all higher than the average MCV (63.53fl) of the 136 β 41-42 heterozygote cases. The HbH section couldn't be found in the case which compounds the HbH gene by the pH8.6 and the pH 6.5 Hemoglobin electrophoresis method. Conclusions: We can't only depend on the clinical symptoms and the routine lab examination results on diagnosing the β 41-42 heterozygote compound α-thal patients.

关 键 词：地中海贫血 血红蛋白H病(HbH) 杂合子 单管多重PCR MCV 

分 类 号：R556.71[医药卫生—血液循环系统疾病]