A case report of congenital sideroblastic anemia caused by a novel ALAS2 mutation in conjunction with thalassemia.

doi:10.1007/s00277-026-06984-4

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

A case report of congenital sideroblastic anemia caused by a novel ALAS2 mutation in conjunction with thalassemia.

Annals of hematology - 10 Apr 2026

Chen Zhi-Xiao, Yang Li-Ye, Wang Liang-Tuo, Chen Bao-Ying, Liang Jian-Lian, Liu Li-Li, Yu Xiao-Hua

Abstract excerpt

BACKGROUND: Congenital sideroblastic anemia (CSA) and thalassemia are both hereditary disorders of erythropoiesis, primarily affecting erythroid cells. Their typical manifestations include anemia and iron overload. In this study, we conducted clinical and molecular analyses on a male patient who was concurrently diagnosed with thalassemia and CSA. METHODS: The patient underwent a series of tests including...

Topics

Humans
5-Aminolevulinate Synthetase
Anemia, Sideroblastic
Codon, Nonsense
Genetic Diseases, X-Linked
Mutation
Pedigree
Thalassemia

Source

Open in PubMed Open full text

Identifiers

PMID: 41961321
DOI: 10.1007/s00277-026-06984-4
PMCID: PMC13068705

Genes

ALAS2
SEA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics