摘要
目的探讨α-地中海贫血（α-地贫）基因型和红细胞参数之间的关系。方法选取2006年1月至2010年6月珠海市妇幼保健院337例成年α-地贫基因携带者，所有病例均排除缺铁、α-地贫双重杂合子和纯合子、α复合β-地贫和异常血红蛋白病。以α珠蛋白基因型不同分为3组：（1）-α/aa或αTα型：静止型地贫组（ST组）83例；（2）--SEA／αα型：标准型地贫组（TT组）210例；（3）-α/--SEA或αTα/--SEA型：中间型地贫组（IT组）或HbH病组44例。选取同期154名健康体检者做为对照组（NC组）。回顾性分析各组红细胞参数，包括RBC、Hh、MCV、MCH、MCHC和RDW-CV，采用方差分析及SNK检验比较上述各组间红细胞参数的差异。结果除Hb F外，各组间红细胞参数差异均有统计学意义。MCV和MCH从高到低依次为NC组[（86．6±5．2）fl、（29．5±2．1）Pg]〉ST组[（80．1±3．3）n、（26．7±1．3）pg]〉TT组[（68．5±3．4）fl、（22．0±1．2）pg]〉IT组[（66．6±7．1）fl、（20．0±2．2）Pg]，差异均有统计学意义（F=580．67、761．19，P均〈0．05）。而反映RBC大小异质性的RDW-CV则是IT组（22．3±3．4）％〉TT组（14．9±1．2）％〉ST组（13．8±1．6）％〉NC组（13．2±1．4）％，差异有统计学意义（F=347．25，P〈0．05）。在ST组中，-α3.7/αα组的MCHC为（335．6±8．0）g／L，高于-α4.2／αα亚组的（330．0±7．2）g／L和αTα/αα亚组的（328．4±9．5）g／L，差异有统计学意义（F=6．07，P〈0．05）。在IT组中，αTα亚组的MCV为（70．1±7．2）fl，高于-α3.7/--SEA亚组的（63．4±5．9）fl和-α4.2/--SEA亚组的（64．1±4．0）fl；而αTα/--SEA亚组的MCHC为（289．7±21．2）g/L，低于其他2个亚组的（306．3±8．4）、（306．1±8．7）g/L，差异均有统计学意义（F=5．55、8．72，P均〈0．05）。除HbA2和HbF外，α珠蛋白基因缺陷的个数与RBC计数和RDW—CV呈正相关（r=0．318、0．580，P均〈0．01），而与其他RBC指标则呈负相关（r=-0．483、-0．827、-0．744、-0．684，P均〈0．01）。结论α-地贫的贫血程度与缺陷的α珠蛋白基因个数密切相关，并以Hb降低和RBC升高为主要特征。非缺失型HbH病（αTα/--SEA）的贫血程度比缺失型HbH病严重，-α4.2/--SEA型I-IbH病又重于-α3.7/--SEA型HbH病。
Objective To investigate the correlation between the erythrocyte indices and the genotypes of alpha thalassemia. Methods 337 carriers with various genotypes of alpha-thalassaemia （ iron deficiency, alpha-thalassemia double heterozygote and homozygote, α-compounding β-thalassemia and abnormal hemoglobinopathy were excluded） were classified into three groups based on different genotypes of alpha-thalassaemia including silent thalassemia group （ST, 83 cases ） , α-thalassemia trait group （TT,210 cases） and intermediate thalassemia group（ IT,44 cases） ,and 154 healthy adults were randomly choosed as normal control. The erythrocyte indices involving in RBC, Hb, MCV, MCH, MCHC and RDW-CV were retrospectively analyzed and the difference of which was compared by analysis of variance and SNK test among aboved-mentioned groups. Results There were statistical significance among groups about erythrocyte indices except Hb F. The order of the level of MCV and MCH was NC[ （86. 6 ±5.2） fl,（29. 5 ±2. 1） pg] 〉ST[（80.1±3.3） fl,（26.7±1.3） pg] 〉Tr[（68.5±3.4） fl,（22.0±1.2） pg ] 〉IT[（66.6±7.1） fl, （20. 0 ± 2. 2 ） pg, F = 580. 67,761.19 ,P 〈 0. 051. And the size of RDW-CV was IT（22. 3 ± 3.4） % 〉 TT （14.9 ±1.2） % 〉 ST（13.8 ± 1.6）% 〉 NC（13.2 ± 1.4）% （F = 347.25,P 〈0.05）. In ST group, the value of MCHC of -α3.7/αα subgroup（335.6 ± 8. 0） g/L was higher than that of -α42/αα subgroup（330 ± 7.2） g/L and αTα/αα subgroup （328. 4 ±9. 5） g/L（F =6. 07,P 〈0. 05）. Meanwhile, in IT group, the value of MCV of αTα/--sEA subgroup（70. 1 ±7.2） fl was higher than that of -α3.7/--SEA subgroup （63.4 ± 5.9） fl and -α4.2/--SEA subgroup （64. 1 ± 4. 0 ） fl （ F = 5.55, P 〈 0. 05 ）. However, the value of MCHC of αTα/--sEA subgroup（ 289. 7 ± 21.2 ） g/L was lower than that of other two subgroups [ （ 306. 3 ± 8.4 ）, （306. 1 ± 8. 7 ） g/L, F = 8.72, P 〈 0. 05 ]. Except Hb A2 and Hb F, there was positive correlation between the number of deleted α-globin gene and that of RBC and RDW-CV （ r = 0. 318 and 0. 580, P 〈0. 01 ）. Nevertheless, there was negative correlation between the number of deleted α-globin gene and that of the other erythrocyte indices （r = -0. 483, -0. 827, -0. 744 and -0. 684, P all 〈0. 01）. Conclusions There is close correlation between the degree of anemia and the number of deleted α-globin gene characterized by Hb reduction and RBC increasing. In addition, the anemia degree of non-deletional Hb H disease is severer than that of deletional Hb H ,which of Hb H disease with -α4.2/--sEA is severer than that with -α3.7/--SEA.
出处
《中华检验医学杂志》
CAS
CSCD
北大核心
2012年第5期418-422,共5页
Chinese Journal of Laboratory Medicine
基金
广东省科技计划项目（2009A030301002）
广东省自然科学基金资助项目（04101691）
