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Article

X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation.

Journal of pediatric hematology/oncology - 1 Jul 2017

Susanto Thomas A K, Bhattacharyya Rajat

Abstract excerpt

Dimorphism in peripheral blood film was noted in a 16 year old Malay boy with anemia who was eventually diagnosed with X-linked sideroblastic anemia. A mutation in ALAS2 S568G was identified which has not been described previously in a Malay ethnic group.

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Topics

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Share to 5-Aminolevulinate Synthetase
Share to Adolescent
Share to Anemia, Sideroblastic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, X-Linked

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Source

Identifiers

PMID: 28644307
DOI: 10.1097/MPH.0000000000000814

Genes

ALAS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation.PMID 28644307Read ↗

Lethal ALAS2 mutation in males X-linked sideroblastic anaemia.Semantic proximity Read ↗

De novo hemizygous P.Arg204Leu mutation in ALAS2 Gene in young Indian male with X-linked sideroblastic anemia: A case reportSemantic proximity Read ↗

Gene symbol: ALAS2. Disease: sideroblastic anaemia.Semantic proximity Read ↗

[Congenital sideroblastic anemia-a new family with identification of K156E mutation of ALAS2 gene and literature review].Semantic proximity Read ↗

A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia.Semantic proximity Read ↗

Non-syndromic congenital sideroblastic anaemia; phenotype, and genotype of 15 Indian patients.Semantic proximity Read ↗

X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine170 to leucine substitution.Semantic proximity Read ↗

A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia.Semantic proximity Read ↗

Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent.Semantic proximity Read ↗

[Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6].Semantic proximity Read ↗

A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia.Semantic proximity Read ↗

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.Semantic proximity Read ↗

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