Child With β-Thalassemia Major Born Following Hematopoietic Stem Cell Transplantation in the Mother: A Case Supporting the Expansion of Genetic Counseling Services in Lebanon and the Middle East.

Authors

Roba El Zibaoui, Soha Yazbek, Miguel Abboud

Published in

Journal of genetic counseling. Volume 35. Issue 5. Pages e70306.

Abstract

We present a case of a woman who underwent a successful bone marrow transplant for beta-thalassemia major and later gave birth to a child who is compound heterozygous with HBB c.93-21G>A and HBB c.316-106C>G mutations to illustrate the critical gaps in reproductive risk assessment and genetic counseling. The prevalence of consanguinity, socioeconomic challenges, and the lack of a cohesive genetics health system in a thalassemia-endemic country all contribute to poor implementation of genetic care. Strengthening the education of healthcare practitioners, implementing centralized medical record systems, and expanding access to genetic services are becoming increasingly fundamental for improving genetic health care delivery across the Middle East and North Africa region.

PMID:
42867022
Bibliographic data and abstract were imported from PubMed on 14 Oct 2026.

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