X-linked sideroblastic anaemia
Enzyme or protein defect
ALA synthase 2
Accumulates or becomes deficient
Mitochondrial iron (ring sideroblasts)
Key features
Microcytic anaemia with ringed sideroblasts and iron overload
Management
Pyridoxine (B6); transfusion; chelation
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · from cache · sorted by publication date
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1
Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies.
Joshi G, Natarajan N, Dickerson KE, Voit RA. · 2026-07-14
unreviewed - 2
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3
X-Linked Sideroblastic Anaemia Caused by Intronic <i>ALAS2</i> Variant Resulting in Highly Variable Expressive Phenotype in Male Siblings, a Case Report.
O'Connor J, Mannion N, McKenna C, Sweeney K, Niblock A. · 2025-05-19
open access unreviewed -
4
Sideroblastic anemia in children: challenges in diagnosis and management in three cases.
Rekaya S, Ben Fraj I, Hamdi R, Ben Taieb A, Merdassi A, Jouini H, Zarrouk H, Zaiter I, Kouki R, Bejaoui M, Me… · 2025-03-05
open access unreviewed -
5
Multidisciplinary approaches to study anaemia with special mention on aplastic anaemia (Review).
Sankar D, Oviya IR. · 2024-09-02
cited 4× open access unreviewed -
6
Erythropoiesis-hepcidin-iron axis in patients with X-linked sideroblastic anaemia: An explorative biomarker study.
Hoving V, Nijssen LE, Donker AE, Roelofs R, Schols SEM, Swinkels DW. · 2023-07-19
cited 3× unreviewed -
7
Iron Metabolism in the Disorders of Heme Biosynthesis.
Ricci A, Di Betto G, Bergamini E, Buzzetti E, Corradini E, Ventura P. · 2022-08-31
cited 16× open access unreviewed -
8
Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity.
Lopriore P, Ricciarini V, Siciliano G, Mancuso M, Montano V. · 2022-04-02
cited 24× open access unreviewed -
9
Sideroblastic anaemia in a patient with sickle cell disease.
Vobugari N, Chaturvedi M, Schlam-Camhi IM, Smith HP. · 2022-02-08
open access unreviewed -
10
Case report: An infant boy with X-linked sideroblastic anaemia successfully treated by umbilical cord blood haematopoietic stem cell transplantation.
Ma Z, Li D, Yang X, Liang J, Zhu Y. · 2022-11-15
cited 2× open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.