摘要目的 同顾性分析3例β地中海贫血(β-地贫)的诊断过程,建立β-地贫的临床诊断策略.方法 分析2014年1月至2015年6月中山大学孙逸仙纪念医院儿科诊治的3例β-地贫患儿及患儿父母的临床表现、血红蛋白电泳和基因检测结果,探讨β-地贫临床表现或血红蛋白电泳结果与基因型不相符时的诊断思路及要点.结果 例1,男,5岁,临床表现为轻度贫血,肝脾不大,血红蛋白电泳示胎儿型血红蛋白(HbF) 92.8％,基因为β41-42/IVS-Ⅱ-654双重杂合子,诊断为β41-42/IVS-Ⅱ-654基因双重杂合子复合持续HbF血症.例2,女,3岁,临床表现为中-重度贫血,肝脾大,血红蛋白电泳示HbF 8.6％,血红蛋白A2(HbA2)4.1％,基因结果β41-42杂合子及αααanti3 7杂合子,诊断为β41-42基因杂合子合并αααanti3.7基因的中间型地贫.例3,女,3岁,临床表现为重度贫血,肝脾肿大,血红蛋白电泳HbF 51.2％,HbA23.7％,基因检测确诊重型β-地贫[PolyA(T→C)/β17双重杂合子].结论 β-地贫的临床诊断策略应包括溶血性贫血、血红蛋白电泳和基因3个方面,并做完整的家系调查.

abstractsObjective To study the diagnostic strategy of β-thalassemia through retrospective analysis of 3 cases of β-thalassemia.Methods Three patients were admitted to the Department of Pediatrics,Sun Yat-sen Memorial Hospital of Sun Yat-sen University from January 2014 to June 2015.The clinical manifestations,hemoglobin electrophoresis and gene detection of these patients and their parents were analyzed,diagnostic ideas and key points were discussed when beta thalassemia gene detection did not explain clinical manifestations or hemoglobin electrophoresis.Results Case 1,boy,5 years old,was diagnosed as compound heterozygotes of β41-42 and IVS-Ⅱ-654 with hereditary persistence of fetal hemoglobin(HPFH) according to the clinical manifestations of mild anemia,normal size of liver and spleen,92.8％ fetal hemoglobin (HbF) and gene analysis.Case 2,girl,3 years old,was confirmed the diagnosis of thalassemia intermedia with β41-42 heterozygote compound and αααanti37 heterozygote in accordance with the manifestations of severe anemia,hepatosplenomegaly,8.6％ HbF,4.1％ hemoglobin A2(HbA2) and gene analysis.Case 3,girl,3 years old,with severe anemia,hepatosplenomegaly,51.2％ HbF and 3.7％ HbA2,was diagnosed as thalassemia major with compound heterozygotes of PolyA (T→C) and β17 by DNA sequencing.Conclusion The diagnosis of β-thalassemia should be confirmed by clinical manifestations of hemolytic anemia,hemoglobin electrophoresis,gene diagnosis and family survey.