Scholarlink

Objective <p>To determine distribution of the 17 commonest mutations in genetically confirmed BTT antenatal women visiting the OPD of Lady Hardinge Hospital (LHMC), New Delhi and to assess their hematological parameters.</p> Material and methods <p>A total of 70 antenatal women were selected for study after a positive HPLC test. Subjects’ peripheral blood samples were collected for a complete blood count (CBC). DNA extraction and genetic mutation analysis were performed at the NIDAN Kendra laboratory, LHMC. The partners of the antenatal women were also screened for BTT and if found positive, prenatal diagnostic testing (PND) was offered and counselling done in cases of affected fetuses.</p> Results <p>Out of the 17 commonest mutations investigated, a total of 10 were detected in the antenatal women. The most common mutation found was IVS1-5 heterozygous, followed by CD26 heterozygous, and CD41/42 heterozygous. CD30, CD31 and CD15 heterozygous were less common. The remaining mutations present were: CD8-9heterozygous, Hb Lepore heterozygous, HbD heterozygous and HPFH I heterozygous. A total of 2 rare mutations were identified in this study: CD30 and CD31 heterozygous. After HPLC screening, 17 out of 70 spouses had BTT carrier status, and the couples were advised for PND with CVS. A total of 16 couples opted for the same and one couple refused. In one couple, beta thalassemia major was detected in the fetus and the pregnancy was terminated. In 9 cases, BTT was identified in the fetus whereas in the rest of the 6 fetuses, no mutation was identified.</p> Conclusion <p>The mutational profile of the antenatal population in Delhi is comparable to those in other Indian states and in neighboring countries. Across populations, IVS1-5 heterozygous is the most common mutation. The second most common mutation however differs from population to population.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Mutation Spectrum of Beta Thalassemia Trait in a Government Medical Hospital in New Delhi, India

  • 期刊论文

  • 发表日期：

    2026年3月26日

查看全文
  • Mahrukh Zaidi,
  • Manisha Kumar,
  • Shailaja Shukla,
  • Rajeev Goyal

摘要

Objective

To determine distribution of the 17 commonest mutations in genetically confirmed BTT antenatal women visiting the OPD of Lady Hardinge Hospital (LHMC), New Delhi and to assess their hematological parameters.

Material and methods

A total of 70 antenatal women were selected for study after a positive HPLC test. Subjects’ peripheral blood samples were collected for a complete blood count (CBC). DNA extraction and genetic mutation analysis were performed at the NIDAN Kendra laboratory, LHMC. The partners of the antenatal women were also screened for BTT and if found positive, prenatal diagnostic testing (PND) was offered and counselling done in cases of affected fetuses.

Results

Out of the 17 commonest mutations investigated, a total of 10 were detected in the antenatal women. The most common mutation found was IVS1-5 heterozygous, followed by CD26 heterozygous, and CD41/42 heterozygous. CD30, CD31 and CD15 heterozygous were less common. The remaining mutations present were: CD8-9heterozygous, Hb Lepore heterozygous, HbD heterozygous and HPFH I heterozygous. A total of 2 rare mutations were identified in this study: CD30 and CD31 heterozygous. After HPLC screening, 17 out of 70 spouses had BTT carrier status, and the couples were advised for PND with CVS. A total of 16 couples opted for the same and one couple refused. In one couple, beta thalassemia major was detected in the fetus and the pregnancy was terminated. In 9 cases, BTT was identified in the fetus whereas in the rest of the 6 fetuses, no mutation was identified.

Conclusion

The mutational profile of the antenatal population in Delhi is comparable to those in other Indian states and in neighboring countries. Across populations, IVS1-5 heterozygous is the most common mutation. The second most common mutation however differs from population to population.