Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia—a family study

Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia—a family study

X-linked sideroblastic anemia (XLSA) (MIM 300752) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors. It is due to mutations of the erythroid-specific enzyme ALAS2, the first enzyme of...

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Bibliographic Details
Main Authors: Salam Al kindi, Altaf Al-Mamari, Shoaib Al-Zadjali, Mohamed Al-Rawahi, Ali Al Madhani, Anil V. Pathare
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-02-01
Series:Frontiers in Medicine
Subjects:
sideroblastic anemia
XLSA
X-linked
ALAS2
congenital
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2024.1452873/full
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