" /> X-linked sideroblastic anaemia, pyridoxine-responsive - CISMeF





Preferred Label : X-linked sideroblastic anaemia, pyridoxine-responsive;

ICD-11 definition : X-linked sideroblastic anaemia is a generally microcytic, hypochromic anaemia of varying severity thatpresent at any age from birth to the 9th decade and that may respond to treatment with pyridoxine and folic acid. Female carriers are usually unaffected, however, one quarter of probands are female and almost half of the female probands have macrocytic rather than microcytic red blood cells.;

ICD-11 synonym : Pyridoxine-responsive sideroblastic anaemia; Erythroid 5-aminolevulinate synthase deficiency;

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X-linked sideroblastic anaemia is a generally microcytic, hypochromic anaemia of varying severity thatpresent at any age from birth to the 9th decade and that may respond to treatment with pyridoxine and folic acid. Female carriers are usually unaffected, however, one quarter of probands are female and almost half of the female probands have macrocytic rather than microcytic red blood cells.

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07/05/2025


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