伊朗南部β地中海贫血产前诊断的有效性：一项队列研究。

Effectiveness of β-thalassemia prenatal diagnosis in Southern Iran: a cohort study.

作者信息

Moghadam Mohamad, Karimi Mehran, Dehghani Seyed Javad, Dehbozorgian Javad, Montazeri Somaye, Javanmardi Elham, Asadzade Rahimeh, Amiri Azizollah, Saghatoleslam Zahra, Sotodegan Fatemosadat, Morshedi Nazila, Imanifard Jaber, Afrasiabi Abdolreza

机构信息

Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Thalassemia and Hemophillia Genetic, PND Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.

出版信息

Prenat Diagn. 2015 Dec;35(12):1238-42. doi: 10.1002/pd.4684. Epub 2015 Oct 15.

DOI:10.1002/pd.4684

PMID:26296249

Abstract

AIM

The aim of this study was to evaluate the effectiveness of prenatal diagnosis (PND) for the prevention of thalassemia in Southern Iran.

METHODS

From 2004 to 2012 1346 couples with β-thalassemia minor were referred to our center. Mutation analyses utilized different methods including polymerase chain reaction-based technique of amplification refractory mutation system (ARMS), Restriction Fragment Length Polymorphism Analysis of PCR-Amplified Fragments (PCR-RFLP) and Gel Electrophoresis and direct sequencing. Haplotype analysis of the β-globin gene cluster was done routinely using the PCR-RFLP technique.

RESULTS

Of the 1346 couples, 884 (66%) requested PND. They had a total of 985 pregnancies (954 singleton and 31 twin pregnancies): the 1016 fetuses underwent chorionic villus sampling (CVS). Thalassemia major was diagnosed in 266 cases (26.2%), and termination of pregnancy was requested by the parents in 264 of them (99%). Thalassemia trait was detected in 499 (49.1%) and 251 cases (24.7%) showed no β-thalassemia mutations. There were three misdiagnoses (0.4%) (affected children diagnosed as carriers at PND). A unique pattern of thalassemia mutations was present in the study population, with IVS II-I (G→A), C36-37(-T), IVS I-5(G>C), -25bpdel (252-276), IVS I-110(G>A) and C44 (-C) being present in 62% of cases.

CONCLUSION

The pattern of distribution of thalassemia mutations differs among ethnic groups within the same country.

摘要

目的

本研究旨在评估产前诊断（PND）对伊朗南部预防地中海贫血的有效性。

方法

2004年至2012年，1346对携带轻度β地中海贫血的夫妇被转诊至我们中心。突变分析采用了不同方法，包括基于聚合酶链反应的扩增阻滞突变系统（ARMS）技术、聚合酶链反应扩增片段的限制性片段长度多态性分析（PCR-RFLP）、凝胶电泳和直接测序。β珠蛋白基因簇的单倍型分析常规采用PCR-RFLP技术。

结果

在1346对夫妇中，884对（66%）要求进行产前诊断。他们共有985次妊娠（954例单胎妊娠和31例双胎妊娠）：1016例胎儿接受了绒毛取样（CVS）。诊断出266例重型地中海贫血（26.2%），其中264例（99%）父母要求终止妊娠。检测到499例（49.1%）携带地中海贫血特征，251例（24.7%）未显示β地中海贫血突变。有3例假阳性诊断（0.4%）（产前诊断时受影响儿童被诊断为携带者）。研究人群中存在独特的地中海贫血突变模式，IVS II-I（G→A）、C36-37（-T）、IVS I-5（G>C）、-25bpdel（252-276）、IVS I-110（G>A）和C44（-C）在62%的病例中出现。