ALAS2 XR unreviewed
X-linked sideroblastic anaemia
Heme synthesis
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
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