Choudhuri Soumita, Sen Aditi, Ghosh Malay Kumar, Misra Sanjay, Bhattacharyya Maitreyee
a Department of Haematology , Nilratan Sarkar Medical College & Hospital , Kolkata , West Bengal , India.
Hemoglobin. 2015;39(6):380-3. doi: 10.3109/03630269.2014.1003564. Epub 2015 May 13.
The thalassemias are among the most common monogenic diseases worldwide, a national health burden in India. There are estimated 7500-12,000 babies born with β-thalassemia major (β-TM) every year in this country. Couples who are at-risk of having children with hemoglobin (Hb) disorders desired to have the option of avoiding the birth of an affected child by prenatal diagnosis (PND). Thus, the prenatal women are a highly important target group for carrier screening and preventing the birth of thalassemic children in the country. The present study was conducted among 20,883 pregnant women, irrespective of gravida and duration of pregnancy, from the prenatal clinic of Nilratan Sarkar (NRS) Medical College & Hospital, Kolkata, West Bengal, India, from February 2009 to November 2012. Thalassemia carrier status was assessed by high performance liquid chromatography (HPLC) along with red blood cell (RBC) indices. Husbands of all thalassemia carrier women were advised and persuaded to undergo screening for hemoglobinopathies. The couples were counseled to undergo PND if both of them were detected to be thalassemia carriers. The data were statistically analyzed to evaluate the efficacy of this procedure.
地中海贫血是全球最常见的单基因疾病之一，在印度是一项国家卫生负担。该国每年估计有7500 - 12000名患有重型β地中海贫血（β-TM）的婴儿出生。有生育血红蛋白（Hb）疾病患儿风险的夫妇希望能够通过产前诊断（PND）来避免患病儿童的出生。因此，该国的孕妇是进行携带者筛查和预防地中海贫血儿童出生的极其重要的目标群体。本研究于2009年2月至2012年11月期间，在印度西孟加拉邦加尔各答市尼尔拉坦·萨卡尔（NRS）医学院及医院的产前诊所，对20883名孕妇进行，这些孕妇不考虑妊娠次数和孕期时长。通过高效液相色谱法（HPLC）以及红细胞（RBC）指数评估地中海贫血携带者状态。所有地中海贫血携带者女性的丈夫都被建议并劝说来接受血红蛋白病筛查。如果夫妻双方都被检测为地中海贫血携带者，会建议他们进行产前诊断。对数据进行统计学分析以评估该程序的效果。
