NIH Rare Diseases :
52
Hemochromatosis type 4 (also called ferroportin disease) is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart , and pancreas . Hemochromatosis type 4 can be further divided into two subtypes: Hemochromatosis type 4A Hemochromatosis type 4B People with hemochromatosis type 4A might not have any symptoms of the disease. Other individuals may develop liver disease as they get older. Hemochromatosis type 4B can be associated with fatigue , weakness, and joint pain . Other symptoms may include abdominal pain, loss of sex drive, liver disease , diabetes , heart problems, difficulty breathing, and skin discoloration. Symptoms of hemochromatosis type 4B can begin anytime from childhood to adulthood. Hemochromatosis type 4 is most common in people of southern European ancestry. Hemochromatosis type 4 is caused by genetic changes (mutations or pathogenic variants) to the SLC40A1 gene . The disease is inherited in an autosomal dominant manner. A diagnosis of hemochromatosis type 4 is suspected when a doctor observes signs and symptoms of the disease. A doctor may decide to order laboratory tests including a liver biopsy , MRI , or blood test . The diagnosis can be confirmed with genetic testing . Treatment of hemochromatosis type 4B usually involves reducing iron levels by removing blood (phlebotomy ) or iron chelation . These treatments can prevent additional organ damage but typically do not reverse existing damage. People with hemochromatosis type 4A may not be recommended to have phlebotomy because it can increase the risk for complications such as anemia . To learn more about other types of hemochromatosis click on the disease names below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 5 Neonatal hemochromatosis
MalaCards based summary :
Hemochromatosis, Type 4, also known as
hemochromatosis type 4, is related to
hemochromatosis, type 5 and
hemochromatosis, type 3, and has symptoms including
fatigue and
arthralgia. An important gene associated with Hemochromatosis, Type 4 is
SLC40A1 (Solute Carrier Family 40 Member 1), and among its related pathways/superpathways are
Insulin receptor recycling and
Metal ion SLC transporters. The drugs
Iron and
Hepcidins have been mentioned in the context of this disorder. Affiliated tissues include
liver,
heart and
pancreas, and related phenotypes are
arthralgia and
joint dislocation
Disease Ontology :
12
A hemochromatosis that has material basis in heterozygous mutation in the SLC40A1 gene on chromosome 2q32.
OMIM :
56
Hemochromatosis type 4 (HFE4) is a dominantly inherited iron overload disorder with heterogeneous phenotypic manifestations that can be classified into 2 groups. One group is characterized by an early rise in ferritin (see 134790) levels with low to normal transferrin (190000) saturation and iron accumulation predominantly in macrophages. The other group is similar to classical hemochromatosis, with high transferrin saturation and prominent parenchymal iron loading (summary by De Domenico et al., 2005).
For general background information and a discussion of genetic heterogeneity of hereditary hemochromatosis, see 235200.
(606069)
UniProtKB/Swiss-Prot :
73
Hemochromatosis 4: A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
Wikipedia :
74
Hemochromatosis type 4, is a hereditary iron overload disorder that affects ferroportin, an iron...
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Rare hepatic diseases 
