αβ复合型地中海贫血患者的血液学与基因型研究

Hematology and genotype study of patients with αβ complex thalassemia

目的:分析73例αβ复合地中海贫血患者的基因型,血液学和临床表现之间的关系,探讨和指导复杂基因型组合的临床诊断。方法:使用标准血液学分析技术测量红细胞参数和血红蛋白成分。反向斑点杂交技术用于诊断β地中海贫血和α地中海贫血基因点突变,间隙聚合酶链反应(PCR)技术用于检测α地中海贫血缺失突变。结果:47例轻度β地中海贫血并发α地中海贫血(轻复合体)患者的临床表现与β地中海贫血携带者相同;26例重度β地中海贫血和α地中海贫血(重症)患者均为严重贫血。轻度贫血是不同的,但大多数表型是中间地中海贫血。在73例患者中,8例在β地中海贫血的突变基因类型中被鉴定,并且在α地中海贫血的突变基因类型中鉴定出5例。结论:轻型复合型的临床表现主要为轻度β地中海贫血,而α地中海贫血被掩盖;重型复合型多为中间型地中海贫血。对地中海贫血进行临床试验时,特别是对于β地中海贫血的携带者,建议常规筛查引起α地中海贫血的基因,以防止误诊和漏诊,并确保产前诊断地中海贫血的准确性。

Objective:To analyze the relationship between genotype,hematology and clinical manifestations of 73 patients with αβ complex thalassemia,and explore and guide the clinical diagnosis of these complex genotype combinations. Method:Red blood cell parameters and hemoglobin components were measured using standard hematology analysis techniques.Reverse dot blot hybridization was used to diagnose βthalassemia and alpha thalassemia gene point mutations,and gap polymerase chain reaction(PCR)technology was used to detect alpha-thalassemia deletion mutations. Result:The clinical manifestations of 47 patients with mild beta thalassemia complicated with alpha thalassemia(light complex)were the same as those for beta thalassemia carriers;26 patients with severe beta thalassemia and alpha thalassemia(severe)were severe anemia.Mild anemia was different,but most phenotypes were intermediate thalassemia.Of the 73 patients,8 were identified in the mutant gene type of beta thalassemia,and 5 were identified among the mutant gene types of alpha thalassemia.Conclusion:The clinical manifestations of light composite type were mainly mild β thalassemia,α thalassemia was masked;Heavy complex type was mostly intermediate thalassemia.This result suggested that when conducting clinical trials for thalassemia,especially for carriers of beta thalassemia,we recommended routine screening for genes that cause alpha-thalassemia to prevent misdiagnosis and missed diagnosis and ensure the accuracy of prenatal diagnosis of thalassemia.