Hemochromatosis: Or something else? Differential Diagnosis

Blood, hematopoietic organs-immune system (D50-D90).

  • Chronic hemolytic anemia – forms of anemia associated with destruction of red blood cells (RBCs).
  • Sideroblastic anemia – sideroblastic anemia, which is also called sideroachrestic anemia, is a special form of aplastic anemia (disorder of bone marrow function, in which there is decreased formation of all blood cells).
  • Thalassemia major (homozygous form of thalassemia; so-called Cooley’s anemia) – genetically caused disease of erythrocytes, in which due to a genetic defect the hemoglobin is not formed sufficiently or is degraded increased

Endocrine, nutritional and metabolic diseases (E00-E90).

  • Acoeruloplasminemia – genetic disorder with both autosomal recessive and autosomal dominant inheritance; absence of the protein coeruloplasmin; in the course of the disease, failure of the oxidation of Fe2+ to Fe3+ results in increased accumulation of toxic divalent iron in the body, esp. in the brain, liver and pancreas (pancreas), but also in other organs and tissues; often clinical triad: retinal degeneration (degeneration of the retina; about 93%), diabetes mellitus (about 89%) and neurological symptoms (about 73%) such as ataxia, involuntary movements and dementia; anemia (anemia; about 80%) is also common.
  • Hereditary hemochromatosis – genetic form of hemochromatosis.
  • Congenital atransferrinemia – absence of the protein transferrin, which is important for iron transport.
  • Porphyria cutanea tarda – congenital or acquired metabolic disorder (enzymopathy).

Liver, gallbladder, and bile ducts-pancreas (pancreas) (K70-K77; K80-K87).

  • Hepatitis B (liver inflammation).
  • Hepatitis C (liver inflammation)
  • Liver cirrhosis – irreversible damage to the liver leading to gradual connective tissue remodeling of the liver with impairment of liver function.
  • Non-alcoholic steatohepatitis (fatty liver inflammation).

Neoplasms – tumor diseases (C00-D48).

  • Myelodysplastic syndrome (MDS) – acquired clonal disease of the bone marrow associated with a disorder of hematopoiesis (blood formation); defined by:
    • Dysplastic cells in the bone marrow or ring sideroblasts or an increase of myeloblasts up to 19%.
    • Cytopenias (decrease in the number of cells in the blood) in the peripheral blood count.
    • Exclusion of reactive causes of these cytopenias.

    One quarter of MDS patients develop acute myeloid leukemia (AML).

Psyche – Nervous System (F00-F99; G00-G99).

  • Alcohol abuse

Further

  • Iron overload in individuals from southern Africa.
  • Dietary iron overload
  • Neonatal iron overload – iron overload of the newborn.
  • Parenteral iron overload – iron overload by artificial nutrition through the vein.
  • Transfusion-related iron overload – iron overload caused by the transfusion of blood.