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Background <p>Beta-thalassemia is the commonest single-gene blood disorder worldwide with global prevalence rate of 5–7%. It is also a major health problem in India as its prevalence varies from 4 to 17% across different states in the country. Beta-thalassemia is highly prevalent in eastern and north-eastern India. In West Bengal, the most common HBB mutation is CD26(G &gt; A) and IVS1-5(G &gt; C). These mutations cause thalassemia major syndrome when present in heterozygous condition affecting both the alleles, and disease is commonly known as HbE-beta-thalassemia. However, IVS1-5(G &gt; C) is β<sup>0</sup> severe mutation and leads to thalassemia major syndrome in homozygous state as well. Here, we report three cases of de novo IVS1-5(G &gt; C) mutation where father is carrier but mother is normal.</p> <p>Cases presentation</p> <p>Three patients having different presentations were referred for genetic testing. One patient was behaving as thalassemia intermedia but HPLC reports similar to that of thalassemia trait. Family screening shows that father is β-thalassemia carrier but mother was normal. However, genetic analysis revealed that the patient was homozygous for IVS1-5(G &gt; C) mutation. Another patient with high HbF and abnormal RBC indices also carried IVS1-5(G &gt; C) mutation in homozygous state. Third case is of a 12-year-old female with severe anemia, received more than 100 blood transfusion. Her spleen was removed and having IVS1-5(G &gt; C) mutation in homozygous condition. In all the three cases, father was the thalassemia carrier having IVS1-5(G &gt; C) mutation in heterozygous state but mother was harboring normal alleles of HBB gene.</p> Conclusion <p>Inheritance testing was performed by VNTR D1S80 analysis. VNTR test confirmed the paternity and maternity of the three probands. Hence, it is highly probable that de novo DNA mutation occurred during embryogenesis of fetus development. Such reports indicate that globin genes are one of the hotspots for DNA alterations in human genome and predispose the risk of disease in newborn even in healthy couples.</p>

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β-thalassemia due to de novo mutation IVS1-5(G > C) at HBB gene in three cases from West Bengal

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  • 发表日期：

    2025年8月21日

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  • Jyoti Shaw,
  • Sunistha Bhattacharjee,
  • Maitreyee Bhattacharyya

摘要

Background

Beta-thalassemia is the commonest single-gene blood disorder worldwide with global prevalence rate of 5–7%. It is also a major health problem in India as its prevalence varies from 4 to 17% across different states in the country. Beta-thalassemia is highly prevalent in eastern and north-eastern India. In West Bengal, the most common HBB mutation is CD26(G > A) and IVS1-5(G > C). These mutations cause thalassemia major syndrome when present in heterozygous condition affecting both the alleles, and disease is commonly known as HbE-beta-thalassemia. However, IVS1-5(G > C) is β0 severe mutation and leads to thalassemia major syndrome in homozygous state as well. Here, we report three cases of de novo IVS1-5(G > C) mutation where father is carrier but mother is normal.

Cases presentation

Three patients having different presentations were referred for genetic testing. One patient was behaving as thalassemia intermedia but HPLC reports similar to that of thalassemia trait. Family screening shows that father is β-thalassemia carrier but mother was normal. However, genetic analysis revealed that the patient was homozygous for IVS1-5(G > C) mutation. Another patient with high HbF and abnormal RBC indices also carried IVS1-5(G > C) mutation in homozygous state. Third case is of a 12-year-old female with severe anemia, received more than 100 blood transfusion. Her spleen was removed and having IVS1-5(G > C) mutation in homozygous condition. In all the three cases, father was the thalassemia carrier having IVS1-5(G > C) mutation in heterozygous state but mother was harboring normal alleles of HBB gene.

Conclusion

Inheritance testing was performed by VNTR D1S80 analysis. VNTR test confirmed the paternity and maternity of the three probands. Hence, it is highly probable that de novo DNA mutation occurred during embryogenesis of fetus development. Such reports indicate that globin genes are one of the hotspots for DNA alterations in human genome and predispose the risk of disease in newborn even in healthy couples.