Tamhankar Parag M, Agarwal Sarita, Arya Vandana, Kumar Ravindra, Gupta U R, Agarwal S S
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India.
Prenat Diagn. 2009 Jan;29(1):83-8. doi: 10.1002/pd.2176.
To determine the feasibility and acceptability of premarital screening for beta thalassemia/related hemoglobinopathies followed by prenatal diagnosis in India.
Premarital testing for thalassemia carrier state was carried out in (1) extended family members (EFM) of diagnosed cases of thalassemia/hemoglobinopathies, (2) unmarried adult cases of anemia attending the hospitals' outpatient department (OPD) and (3) adult college students (CG). Hemoglobin, red cell indices were measured by a cell counter and hemoglobin fractionation was carried out by high performance liquid chromatography (HPLC). In cases with HbA2>3.5%, or with variant hemoglobin, mutation screen was done by amplification refractory mutation system polymerase chain reaction (ARMS-PCR). In high-risk prospective couples, premarital genetic counseling was done and prenatal diagnosis possibilities were explained.
The yield of carriers from EFM, OPD and CG groups was 78.17% (308/394), 19.51% (263/1348) and 4.04% (38/939), respectively. The number of prospective high-risk couples detected were 154, 48 and 2 from EFM, OPD and CG, respectively. As much as 99% of prospective carrier couples married even after knowing their high-risk status and opted for prenatal diagnosis. The program averted the birth of 33 thalassemic children; 28 in EFM group (by screening of 394 individuals), 4 in the OPD group (by screening 1348 anemic patients), and 1 in CG group (by screening of 939 students).
Premarital screening in extended family members, followed by prenatal diagnosis is acceptable and the most effective strategy for control of thalassemia in developing countries like India.
确定在印度对β地中海贫血/相关血红蛋白病进行婚前筛查并随后进行产前诊断的可行性和可接受性。
对以下人群进行地中海贫血携带者状态的婚前检测：（1）地中海贫血/血红蛋白病确诊病例的大家庭成员（EFM）；（2）在医院门诊部（OPD）就诊的未婚成年贫血患者；（3）成年大学生（CG）。通过血细胞计数器测量血红蛋白、红细胞指数，并通过高效液相色谱法（HPLC）进行血红蛋白分级分离。对于HbA2>3.5%或存在变异血红蛋白的病例，采用扩增阻滞突变系统聚合酶链反应（ARMS-PCR）进行突变筛查。对高风险准夫妇进行婚前遗传咨询，并解释产前诊断的可能性。
EFM组、OPD组和CG组携带者的检出率分别为78.17%（308/394）、19.51%（263/1348）和4.04%（38/939）。分别从EFM组、OPD组和CG组中检测出154对、48对和2对高风险准夫妇。高达99%的准携带者夫妇在知道自己的高风险状态后仍选择结婚，并选择了产前诊断。该项目避免了33名地中海贫血患儿的出生；EFM组28名（通过筛查394人），OPD组4名（通过筛查1348名贫血患者），CG组1名（通过筛查939名学生）。
在大家庭成员中进行婚前筛查，随后进行产前诊断是可接受的，并且是在印度等发展中国家控制地中海贫血最有效的策略。
