Autosomal recessive sideroblastic anemia

MONDO:0016828

Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.

Also known as: congenital sideroblastic anaemia, congenital sideroblastic anemia, ARSA, sideroblastic anemia, autosomal recessive

11 clinical trials for this condition and its sub-types, 2 tagged with Autosomal recessive sideroblastic anemia itself.

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Where it sits in the disease tree

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↑ Autosomal recessive disease (999) ↑ Inherited sideroblastic anemia (7)

Sub-types of Autosomal recessive sideroblastic anemia

Sideroblastic anemia 2 0 trials
Sideroblastic anemia 3 0 trials

Including sub-types (11) Tagged with Autosomal recessive sideroblastic anemia (2)

Trials to join now! 1 Not yet finished but already full! 1

Scientists hunt for missing genes behind rare blood disorder

Knowledge-focused Recruiting now

This study looks for new genetic causes of congenital sideroblastic anemias, a group of rare blood disorders where the body cannot properly use iron to make red blood cells. Researchers will analyze DNA from 20 people whose genetic cause is still unknown. The goal is to find and …

Sponsor: Centre Hospitalier Universitaire, Amiens • Aim: Knowledge-focused

Last updated Jun 27, 2026 11:00 UTC

Autosomal recessive sideroblastic anemia

Where it sits in the disease tree

Scientists hunt for missing genes behind rare blood disorder