摘要
目的探讨广东省的孪生新生儿中地中海贫血(THAL)状况,提高诊断孪生新生儿地中海贫血的实验水平。方法日本东亚公司SYSMEXNE1500全自动血细胞分析仪检测血常规,美国HELENA公司全自动快速电泳系统(REP)及其pH8.6琼脂凝胶试剂作血红蛋白区带定量。结果共检测219例孪生新生儿,正常组82例,地中海贫血组137例,分为4组:轻型α-THAL静止型组69例,轻型α-THAL标准型组29例,轻型β-THAL组30例,轻型α-THAL组复合轻型β-THAL组6例,另外还有α-THAL中间型(HbH型)1例,异常HBE杂合子2例。在血常规中RBC、MCV、MCH和RDW-CV四项检测中,轻型α-THAL标准型组和轻型β-THAL组与正常组比较有非常显著差异(P<0.01);尤其轻型α-THAL标准型组显示最明显的小细胞低色素性贫血,MCV<95fL,MCH<35;在血红蛋白电泳的HbA定量分析中,特别是轻型β-THAL组与正常组比较有非常显著差异(P<0.01),轻型β-THAL组的HBA值<16%,正常组HbA值25.0%。孪生新生儿可出现各种不同的THAL状况,在双孪双胎的孪生新生儿中有出现轻型α-THAL组复合轻型β-THAL的、正常新生儿与异常血红蛋白E杂合子的、轻型α-THAL静止型与α-THAL中间型(HbH)等多种状况。结论孪生新生儿(足月儿)脐血检测血常规和血红蛋白电泳区带定量是诊断新生儿地中海贫血的重要指标,应认真建立新生儿血常规的正常参考值。
Objective ： To investigate the conditions of thalassemia （THAL） in neonatal twins in Guangdong province, and to raise the level in laboratory diagnosis of THAL in neonatal twins. Methods ： Routine blood test and hemoglobin zone quantitative determination were performed, using full automatic hemocyte analyzer （SYSMEX NE 1500 of the East Asia Company of Japan） for the former, and full automatic rapid electrophoresis （REP） system （ HELENA Company of U. S. A） and its pH8.6 agar gel reagent for the latter. （ partly with gene analysis of α, β thalassemia）. Results： 219 cases of neonatal twins were examined （82 cases in normal control group, and 137 cases in THAL group, with the latter derided into four sub L groupS： 69 cases of silent minorα- thalassemia, 29 cases of standard minor α- thalassemia, 30 cases of minorβ-thalassemia. , and 6 cases of α- thalassemia/β- thalassemi ; besides, 1 case with medial type of α - thalassemia （HB H type）, and 2 cases with abnormal HB E heterozygote）. In Routine blood test, the four examined items RBC, MCV, MCHand RDW - CV of the standard minorα - thalassemia group and of the minorβ - thalassemia group showed significant difference （ P 〈 0. 01 ） compared with those of the normal group, especially remarkable microcytic hypochromic anemia shown in the standard minorα - thalassemia group with MCV 〈 95 fL and MCH 〈 35 pg ; in HB A quantitative analysis through hemoglobin electrophoresis, the minor β - thalassemia Group showed significant difference （ P 〈 0. 01 ） compared with the normal group （ HB A value 〈 16% in the former and 25.0% in the latter）. Various conditions of THAL may appear in neonatal twins; various conditions of minorα- thalassemia/minorβ -thalassemia , normal neonatal and abnormal HB E heterozygote; silent minorα- thalassemia and medial type （HB H） etc, may appear in co-twin of the neonatal twins. Conclusion： Routine blood test with cord blood examination and hemoglobin electrophoresis HB A quantitative determination for neonatal twins is an important index in diagnosing neonatal twin THAL, thus , it is necessary to establish the normal reference values in routine blood test for neonates to be used as the important data in supplementarily diagnosing neonatal THAL ; various conditions of THAL with multiple characteristics in neonatal twins may be detected by hemoglobin electrophoresis, which must be taken seriously in laboratory diagnosis.
出处
《中国优生与遗传杂志》
2006年第9期85-88,共4页
Chinese Journal of Birth Health & Heredity
关键词
孪生新生儿
地中海贫血
实验诊断
Neonatal twin
Thalasqemia （THAL）
Laboratory diagnosis
