Catalog

Autosomal recessive sideroblastic anaemia, pyridoxine-refractory

No MMS code

Link to WHO Definition

Autosomal recessive sideroblastic anaemia, pyridoxine-refractory – http://id.who.int/icd/entity/200229490

Adult onset autosomal recessive sideroblastic anaemia or GLRX5-related sideroblastic anaemia is a very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anaemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anaemia with liver iron overload and type 2 diabetes.