G6PD缺乏症合并罕见类型β地中海贫血的基因分析

Gene Analysis of G6PD Deficiency Complicated with a Rare Type of β-thalassemia

目的报道葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症合并罕见类型β珠蛋白基因突变的少见病例l例及家系调查结果。方法通过对患儿一家四口(先证者、父、母及胞姐)的常规血液学检查、G6PD检测、β珠蛋白基因检测等,进行基因突变及家系分析。结果发现先证者为G6PD缺乏症合并β地中海贫血患者(少见类型异常血红蛋白病,CD66,Lys→Glu,Hb I-Tou-louse),胞姐正常,其父也有同样珠蛋白基因改变,其母表现为G6PD活性下降。结论 G6PD溶血虽然是自限性的,但当合并地中海贫血时,往往加重病情,尤其是某些特殊类型的异常血红蛋白。由于该两种病目前均无有效的治疗方法,婚前检查及产前诊断对减少地中海贫血合并G6PD缺乏症患儿的出生具有十分重要的意义。

Objective To report one rare case of G6PD deficiency combined with a rare type of β-thalassemia and results of pedigrees analysis.Methods Pedigrees analysis,G6PD testing,β-globin gene determination and the other laboratory results were analyzed in the proband and the other people in the family.Results A scarce gene mutation of β-globin gene,CD66,Lys→Glu,Hb I-Toulouse was found in propositus.The child was a patient of G6PD deficiency combined with β-thalassemia.The fellow sister is normal,and the father is a case with β-thalassemia minor,and the enzymatic activity of G6PD in the mother is decline.Conclusion G6PD hemolysis is a self-limited disease,but it can grew worse when it is complicated by thalassemias,especially with some special types of abnormal hemoglobin.Because of having no effective treatment methods about the diseases,concrete screening of antemarital physical examination and prenatal exam is essential to prevent thalassemias and G 6PD difficiency or both.