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目的:探讨佛山地区αβ复合型地中海贫血(αβ复合型地贫)的基因型及临床表现型特征。方法:对15例αβ复合型地贫患者进行全血细胞分析和血红蛋白电泳,同时采用Gap-PCR法检测3种常见的α地贫缺失基因,反向点杂交法检测17种常见的β地贫突变基因位点。结果:15例αβ复合型地贫中共检出3种α地贫缺失基因和4种β地贫突变基因,分别为:--SEA(66.7%)、-а3.7(26.7%)、-а4.2(6.6%)和CD41-42(42.1%)、IVS-2-654(31.6%)、CD17(15.8%)、β-28(10.5%),组合成9种复合基因型,其中轻型11例,重型4例。轻型患者多贫血症状轻微或无,重型患者呈中间型地贫表现。轻、重型αβ复合型地贫红细胞均呈小细胞、低色素改变,两者RBC、MCV、MCH、MCHC差异均无统计学意义(均P>0.05),重型患者Hb低于轻型(P<0.05),RDW大于轻型(P<0.05)。重型患者HbF高于轻型患者(P<0.05),HbA2两型患者差异无统计学意义(P>0.05))。结论:αβ复合型地贫有其自身特点,临床表现取决于其基因型。建议建立地贫基因网络档案库,加强对地贫患者的保健、治疗和婚姻生育等指导工作。
Objective: To investigate the genotypes and clinical phenotypic characteristics of αβ-thalassemia complex in Foshan area. Methods: Fifteen patients with αβ-thalassemia complex were analyzed by hemoglobin electrophoresis and hemoglobin electrophoresis. Three common deletion mutations of α-thalassemia were detected by Gap-PCR, and 17 common β-thalassemia mutations were detected by dot-blot hybridization Gene locus. Results: Three kinds of α-thalassemia deletion gene and four kinds of β-thalassemia gene were detected in 15 cases of αβ complex thalassemia, which were: - SEA (66.7%), - а3.7 (26.7% Nine composite genotypes were constructed by combining two types of genotypes: CD11-42 (42.1%), IVS-2-654 (31.6%), CD17 (15.8%) and β-28 Cases, heavy 4 cases. Patients with light anemia or mild anemia, severe patients showed intermediate poor performance. There was no significant difference in RBC, MCV, MCH and MCHC between the two groups (all P> 0.05), while the Hb in severe patients was lower than that in the light (P <0.05) ), RDW was greater than light (P <0.05). HbF was higher in severe patients than in mild patients (P <0.05). There was no significant difference between HbA2 patients (P> 0.05). Conclusion: αβ complex thalassemia has its own characteristics, its clinical manifestations depend on its genotype. It is proposed to establish a database of thalassemia gene networks to enhance guidance on the care, treatment and birth of thalassemia patients.