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目的:研究广东地区小儿αβ复合型地中海贫血(地贫)的检出率、基因型及临床表现特点。方法:采用反向点杂交法(RDB)诊断β地贫286例,再进一步采用GAP-PCR法进行α地贫1和α地贫2基因检测。结果:在286例地贫中检测出25例αβ复合型地贫。检出率为8.74%,其中β地贫复合α1地贫基因为4.89%,β地贫复合α2基因为3.85%。轻型β地贫复合α地贫18例,检出率为8.74%,重型β地贫复合α地贫7例,检出率为8.75%,在25例αβ复合型地贫中,β重型者占28%。轻型β地贫复合α地贫患儿均无明显临床症状,而重型β地贫复合α地贫患儿有贫血,肝脾肿大的临床表现,但较单纯重型地贫轻,血液学检查也显示为中间型的表现。结论:广东地区αβ复合型地贫检出率较高。αβ复合型地贫血基因型与临床表现型有密切关系。研究αβ复合型地贫基因型对指导地贫患儿的养育、保健、治疗和婚姻生育有着很大的意义。
Objective: To investigate the detection rate, genotype and clinical features of children with αβ-thalassemia complex in Guangdong Province. Methods: 286 cases of β-thalassemia were diagnosed by reverse dot blot hybridization (RDB). Then, the gene of α-thalassemia 1 and α-thalassemia 2 were further detected by GAP-PCR. Results: Twenty-five cases of αβ complex thalassemia were detected in 286 cases of thalassemia. The detection rate was 8.74%, in which β-thalassemia α1 thalassemia gene was 4.89%, β-thalassemia α2 gene was 3.85%. In 18 cases of light β-thalassemia complicated with α-thalassemia, the detection rate was 8.74%, 7 cases of severe β-thalassemia combined with α-thalassemia, the detection rate was 8.75%. Among 25 cases of αβ-thalassemia, 28%. There was no obvious clinical symptom in both children with mild β-thalassemia combined with α-thalassemia, but the clinical manifestations of anemia and hepatosplenomegaly in children with severe β-thalassemia combined with α-thalassemia were lighter than those with simple thalassemia major and haematological examination Show as an intermediate performance. Conclusion: The detection rate of αβ complex type thalassemia in Guangdong is high. αβ anemia complex type and clinical phenotype are closely related. It is of great significance to study the genotype of αβ-thalassemia in the care, care, treatment and marriage of children with thalassemia.