Scholarlink

Introduction <p>Cascade screening to identify at-risk relatives of patients with genetic conditions is a strong intervention to reducing the burden of genetic disorders. Even then, we often observe more than one child with same genetic hematological disease in the same family and evaluated reasons for this.</p> Methods <p>The study was conducted between 1 June 2023 and 31 May 2024 at our outpatient service. A cross-sectional survey of families with more than one child with inherited hematological disorders such as hemophilia or thalassemia-major were enrolled. We analyzed demographic variables, awareness regarding disease, barriers, financial implications, and current opinion regarding carrier testing.</p> Results <p>Out of more than 1200 inherited hematological diseases registered at our center, the first 50 families who had more than one child with the same disease (hemophilia 28, von Willebrand disease 4, afibrinogenemia 1, beta-thalassemia major 17 and sickle beta-thalassemia 1) were enrolled. Consanguinity was present in five families and endogamy in nine. Regarding family history, 12 had first or second-degree family members with the same disease in earlier generations. 47% parents had high-school education and 24% were graduates.</p> <p>None were aware of hemophilias or hemoglobinopathies before the birth of their index child. Only 27 families (54%) knew the hereditary nature of this illness. When enquired, 12 out of 50 families (24%) knew that this disease could recur in next pregnancy. Significant financial burden was reported for transportation costs and parental job absenteeism. All unanimously agreed to endorse carrier detection in family members.</p> Conclusion <p>Cascade screening is a strong tool to prevent inherited hematological diseases. Counseling to allay the myths is needed to motivate families to proceed with carrier detection is a dire necessity.</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

Barriers to cascade screening and prenatal testing in families with genetic haematological diseases

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年6月3日

查看全文
  • Archit Pandharipande,
  • Nita Radhakrishnan,
  • Shruti Verma,
  • Vivek Kumar Chauhan,
  • Eby P. Baby,
  • Anukriti Srivastava

摘要

Introduction

Cascade screening to identify at-risk relatives of patients with genetic conditions is a strong intervention to reducing the burden of genetic disorders. Even then, we often observe more than one child with same genetic hematological disease in the same family and evaluated reasons for this.

Methods

The study was conducted between 1 June 2023 and 31 May 2024 at our outpatient service. A cross-sectional survey of families with more than one child with inherited hematological disorders such as hemophilia or thalassemia-major were enrolled. We analyzed demographic variables, awareness regarding disease, barriers, financial implications, and current opinion regarding carrier testing.

Results

Out of more than 1200 inherited hematological diseases registered at our center, the first 50 families who had more than one child with the same disease (hemophilia 28, von Willebrand disease 4, afibrinogenemia 1, beta-thalassemia major 17 and sickle beta-thalassemia 1) were enrolled. Consanguinity was present in five families and endogamy in nine. Regarding family history, 12 had first or second-degree family members with the same disease in earlier generations. 47% parents had high-school education and 24% were graduates.

None were aware of hemophilias or hemoglobinopathies before the birth of their index child. Only 27 families (54%) knew the hereditary nature of this illness. When enquired, 12 out of 50 families (24%) knew that this disease could recur in next pregnancy. Significant financial burden was reported for transportation costs and parental job absenteeism. All unanimously agreed to endorse carrier detection in family members.

Conclusion

Cascade screening is a strong tool to prevent inherited hematological diseases. Counseling to allay the myths is needed to motivate families to proceed with carrier detection is a dire necessity.