Acquired idiopathic sideroblastic anemia

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Acquired idiopathic sideroblastic anemia

ORPHA:75564Disease

Also called AISA · Primary acquired sideroblastic anemia · RARS · Refractory anemia with ringed sideroblasts

What it is

A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia.

Key facts

Prevalence
<1 / 1 000 000 (annual incidence, Europe)
Age of onset
Adult
Inheritance
Not applicable
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

SF3B1Disease-causing somatic mutation(s)
TET2Disease-causing somatic mutation(s)

ICD-10 codes

D64.3filed under a broader ICD-10 category

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 8249MONDO 0019157MONDO 19157UMLS C4016601

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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