Associated Papers
The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation.
Jové-Solavera D et al.
Scientific Reports, 2025
40195342 (PubMed )
Supplement: 41598_2025_95590_MOESM1_ESM.pdf
[From persistent "hypoxemia" to the diagnosis of an hemoglobinopathy].
García Rosolen N et al.
Medicina, 2025
Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine.
Ducamp S et al.
Blood, 2024
36-year-old male with X-linked congenital sideroblastic anemia presenting as chronic microcytic anemia with iron overload.
Simpson SJ et al.
International Journal of Laboratory Hematology, 2022
Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.
Bailey HJ et al.
Nature Communications, 2020
32499479 (PubMed )
Supplement: 41467_2020_16586_MOESM1_ESM.docx
Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia.
Qiu Y et al.
Annals of Hematology, 2020
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
Balwani M et al.
Molecular Medicine (cambridge, Mass.), 2013
Mild iron overload in an African American man with SLC40A1 D270V.
Lee PL et al.
Acta Haematologica, 2012
Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients.
Lee PL et al.
American Journal of Hematology, 2011
Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G.
Sussman NL et al.
Acta Haematologica, 2008
Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity.
Furuyama K et al.
European Journal of Haematology, 2006
Iron overload due to X-linked sideroblastic anemia in an African American man.
Collins TS et al.
The American Journal of Medicine, 2004
The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia.
May A et al.
Haematologica, 1998
Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia.
Bottomley SS et al.
Journal of Bioenergetics and Biomembranes, 1995
Clinical and biochemical genetics of the lipidoses.
Kolodny EH
Seminars in Hematology, 1972
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