sideroblastic anemia 5

info · Genetic

A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that has_material_basis_in compound heterozygous mutation in the HSCB gene on chromosome 22q12.

Signs and symptoms

Hypochromic microcytic anemia
Anemia
Refractory anemia with ringed sideroblasts
Reduced hematocrit
Thrombocytopenia
Decreased total neutrophil count

Also known as: SIDBA5