Heritable and Acquired Disorders Associated with Iron Overload
Heritable Disorder Cause of Iron Overload Pattern of Inheritance
Hemochromatosis
Hemochromatosis Type 1
(Adult)
HFE gene mutations Autosomal recessive
Hemochromatosis Type 2A
(Juvenile)
Unknown Autosomal recessive
Hemochromatosis Type 2B
(Juvenile)
Hepcidin gene mutations Autosomal recessive
Hemochromatosis Type 3 Transferrin receptor 2 inactivation Autosomal recessive
Hemochromatosis Type 4 Ferroportin gene mutations Autosomal dominant
Hemochromatosis Type 5
(Japanese Iron Overload)
H-ferritin gene mutation Autosomal dominant
Other heritable disorders
Porphyria cutanea tarda Heterogeneous Autosomal dominant or sporadic
African iron overload Unknown Autosomal dominant
Neonatal iron overload In-utero iron transfer Heterogeneous
Atransferrinemia Transferrin gene mutations and red cell transfusions Autosomal recessive
Aceruloplasminemia Ceruloplasmin gene mutations Autosomal recessive
Hereditary hyperferritinemia cataract syndrome L-ferritin gene mutations Autosomal dominant
Friedreich ataxia Frataxin gene mutations Autosomal recessive
B-Thalassemia major B-globin gene mutations, chronic hemolysis, red cell transfusions Autosomal recessive
Hereditary X-linked sideroblastic anemia d-ALA synthase gene mutations X-linked
Pyruvate kinase deficiency Pyruvate kinase gene mutations Autosomal recessive
G6PD deficiency G6PD gene mutation X-linked
Congenital dyserythropoeitic anemia Type I Ineffective erythropoeisis Autosomal recessive
Congenital dyserythropoeitic anemia Type II Ineffective erythropoeisis Autosomal recessive
Congenital dyserythropoeitic anemia Type III Ineffective erythropoeisis Autosomal dominant
Pantothenate Kinase-Associated Neurodegeneration Pantothenate kinase 2 gene mutations Autosomal recessive
Acquired disorders
Transfusions Red cell iron transfusion  
Medicinal iron Excessive iron ingestion  
Myelodysplasia with ring sideroblasts Excessive iron absorption  
Portocaval shunt Excessive iron absorption  

(Adapted from: Edwards CQ. Hemochromatosis. In: Wintrobe’s Clinical Hematology,11th ed., chapter 30. Lippincott, Williams, and Wilkens, November 1, 2003)