小儿αβ复合型地中海贫血基因诊断及临床表现  

Gene diagnosis and clinic characterization of childrenαβ-thalassemia

作　　者：区小冰[1] 黄钰君[1] 张力[1] 余一平[1] 李文利[1] 

机构地区：[1]广州市儿童医院检验科

出　　处：《临床血液学杂志（输血与检验）》2007年第4期147-149,共3页Journal of Clinical Hematology(Blood Transfusion & Laboratory Medicine)

摘　　要：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 prevalence, genotype and clinic characterization of childrenαβ-thalassemia in Guangdong province. Methods:The DNA samples of 286β-thalassemias diagnosed by reverse dot blot (RDB ) were analyzed by Gap-PCR for α-thalassemia 1 gene and α-thalassemia 2 gene.Results:Of 286 β-thalassemias, 25 were detected to be combined with α-thalassemia, among which 14 were detected to be combined withα-thalassemia 1 gene and 10 were detected to be combined with α-thalassemia 2 gene. 18 cases of β-thalassemia minor were detected to be combined with α-thalassemia, 7 cases of β-thalassemia major were detected to be combined with α-thalassemia. The prevalences were 8.74%, 4.89%, 3.85%, 8.74% and 8.75%, respetively. β-thalassemia major accounted for 28.0 % in 25 cases of childrenαβ-thalassemia. The children of β-thalassemia minor combined withα-thalassemia had no remarkable clinic characterization. The chidren of β-thalassemia major combined with α-thalassemia had obvious clinic characterization such as anaemia and splenohepatomegalia and were detected to be β-thalassemia intermedius type. Conclusion: The prevalence of αβ-thalassemia in Guangdong province is relatively frequent. The genotypes of αβ-thalassemia are associated with the phenotypes. It is very important to investigate the genotype of αβ-thalassemia for guiding the nursing, health care, therapy, marriage and procreation of thalassemia children.

关 键 词：地中海贫血 基因 临床表现 

分 类 号：R725.5[医药卫生—儿科]