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目的检测柳州地区12例重型β地中海贫血婴儿基因类型,对其父母进行血液分析。方法对12例1岁以下的中重度贫血的患儿及父母进行红细胞(RBC)参数和血红蛋白(Hb)电泳分析,最终采用PCR的基因分析方法进行确诊。结果 12例贫血患儿均确诊为重型β地中海贫血患儿,血红蛋白(Hb)电泳分析胎儿血红蛋白(HbF)均增高(最低65.79%,最高86.77%,平均74.74%),β基因突变类型分析41-42/41-42型3例,17/17型3例,71-72/17型2例,41-42/17,41-42/654,654/17,654/27-28型各1例。患儿父母的检测结果平均红细胞体积(MCV)<80fl,平均红细胞血红蛋白含量(MCH)<22pg,HbA2≥4.0%,PCR基因分析确诊为β地中海贫血携带者。结论柳州地区加强对育龄夫妇及妊娠妇女的地贫检查十分重要。
Objective To detect the genotypes of 12 infants with β-thalassemia major in Liuzhou area and analyze the blood of their parents. Methods Erythrocyte (RBC) parameters and hemoglobin (Hb) electrophoresis were analyzed in 12 infants and their parents under 1 year of age with moderate and severe anemia, and finally confirmed by genetic analysis of PCR. Results All the 12 children with anemia were diagnosed as severe β-thalassemia. HbF was increased (minimum 65.79%, highest 86.77%, average 74.74%), and the mutation of β gene 41- Three cases of type 42/41-42, three cases of type 17/17, two cases of type 71-72 / 17, and one case of type 41-42 / 17, 41-42/654, 654/17 and 654/27-28. The results of children with their parents test the average volume of red blood cells (MCV) <80fl, the average hemoglobin content (MCH) <22pg, HbA2 ≥ 4.0%, PCR gene analysis confirmed β-thalassemia carriers. Conclusion It is very important to strengthen the inspection of thalassemia for couples of childbearing age and pregnant women in Liuzhou area.