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Objective <p>The study aims to screen pregnant women for hemoglobinopathy, offer prenatal testing for identified mutations and empower them to make informed reproductive decisions.</p> Method <p>Amplification-Refractory Mutation System Polymerase Chain Reaction <b>(</b>ARMS PCR) was used to detect common mutations for thalassemia and sickle cell disease, with HBB gene sequencing offered if no mutations were found. Prenatal testing was performed through Sanger sequencing.</p> Results <p>A total of 1149 pregnant women were screened, and 144 were found to be carriers for hemoglobinopathies. On mutation testing, 36.1% of women had the IVS1-5 (G &gt; C) mutation, followed by CD 8/9 (+ G), IVS 1–1 (G &gt; T), CD 41/42 (-CTTT), CD15 G &gt; A, and a 619&#xa0;bp deletion (23.6%, 11.1%, 7.6%, and 6.9%, respectively). Of the 144 carrier women, 24 couples were found to be at risk for having a baby with haemoglobinopathy, while 19 couples were already diagnosed to be carriers of hemoglobinopathies. Prenatal testing was done on 38 couples which revealed five fetuses with homozygous and compound heterozygous pathogenic variants of the <i>HBB</i> gene.</p> Conclusion <p>ARMS PCR is an effective method for identifying point mutations. Prenatal genetic counselling and diagnosis are crucial in mitigating severe hemoglobinopathies. It enables couples with knowledge to make informed decisions about their reproductive options.</p>

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Empowered Prenatal Choice-Making as a Simple Tool to Reduce Disease Burden in Severe Haemoglobinopathies by HBB Gene Variant Analysis, Prenatal Diagnosis and Genetic Counselling

  • 期刊论文

  • 发表日期：

    2025年1月27日

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  • Kuldeep Singh,
  • Dolat Singh Shekhawat,
  • Charu Sharma,
  • Pratibha Singh,
  • Abhishek Purohit,
  • Siyaram Didel

摘要

Objective

The study aims to screen pregnant women for hemoglobinopathy, offer prenatal testing for identified mutations and empower them to make informed reproductive decisions.

Method

Amplification-Refractory Mutation System Polymerase Chain Reaction (ARMS PCR) was used to detect common mutations for thalassemia and sickle cell disease, with HBB gene sequencing offered if no mutations were found. Prenatal testing was performed through Sanger sequencing.

Results

A total of 1149 pregnant women were screened, and 144 were found to be carriers for hemoglobinopathies. On mutation testing, 36.1% of women had the IVS1-5 (G > C) mutation, followed by CD 8/9 (+ G), IVS 1–1 (G > T), CD 41/42 (-CTTT), CD15 G > A, and a 619 bp deletion (23.6%, 11.1%, 7.6%, and 6.9%, respectively). Of the 144 carrier women, 24 couples were found to be at risk for having a baby with haemoglobinopathy, while 19 couples were already diagnosed to be carriers of hemoglobinopathies. Prenatal testing was done on 38 couples which revealed five fetuses with homozygous and compound heterozygous pathogenic variants of the HBB gene.

Conclusion

ARMS PCR is an effective method for identifying point mutations. Prenatal genetic counselling and diagnosis are crucial in mitigating severe hemoglobinopathies. It enables couples with knowledge to make informed decisions about their reproductive options.