Conditions / Genetic

atransferrinemia

info ยท Genetic

A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (

A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22.

Signs and symptoms

  • Abnormality of the liver
  • Congestive heart failure
  • Hypochromic anemia

Also known as: familial hypotransferrinemia