Hb Lepore-BW伴发IVS-Ⅱ-654杂合变异的诊断及产前筛查的临床意义

Clinical Diagnosis and Prenatal Screening of Hb Lepore-BW Associated with IVS-Ⅱ-654 Heterozygous Mutation

目的:鉴定四川地区罕见Hb Lepore-BW伴发IVS-Ⅱ-654杂合变异的病例。方法:采用血常规和血红蛋白电泳方法分析先证者及其父母的外周血和孕妇脐血的血常规参数、血红蛋白A;(HbA;)和血红蛋白F(HbF);采用地中海贫血基因检测和Sanger测序方法分析并鉴定先证者及其父母和孕妇脐血的血红蛋白突变。结果:检测到先证者为Hb Lepore-BW伴发IVS-Ⅱ-654杂合突变,其父亲为Hb Lepore-BW杂合突变,其母亲和脐血均为IVS-Ⅱ-654杂合突变。结论:本研究鉴定出一例罕见Hb Lepore-BW伴发IVS-Ⅱ-654杂合突变。此突变临床表现为中间型β地贫。血红蛋白电泳结合血常规检查是产前筛查的必要手段。

Objective: To identify one case of rare Hb Lepore-BW associated with IVS-Ⅱ-654 heterozygous mutation in Sichuan area. Methods: The blood routine examination and hemoglobin electrophoresis methods were used to analyze the blood routine parameters, HbA;and HbF in the samples of peripheral blood in proband and his parents, as well as the cord blood of pregnant woman. The detection of thalassemia gene and Sanger sequencing methods were used to detect the hemoglobin mutations. Results: The result showed that the Hb Lepore-BW heterozygous mutation was detected in the father of the proband, while a rare Hb Lepore-BW with IVS-Ⅱ-654 heterozygous mutation was detected in the proband, as well as his mother and cord blood were both detected as IVS-Ⅱ-654 heterozygous mutation. Conclusion: The study identified a rare Hb Lepore-BW with IVS-Ⅱ-654 heterozygous mutation, which was characterized by intermediate β-thalassemia. It is necessary to hemoglobin electrophoresis combined with routine blood testing in prenatal screening.