Adult-onset autosomal recessive sideroblastic anemia
ORPHA:255132· ICD-10 D64.0
Definition
A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Adult