Hemochromatosis causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sunny Kumar MD [2]

Causes

Hemochromatosis is due to unchecked transfer of iron into the bloodstream in the absence of increased erythropoietic needs and its toxic effects in parenchymatous organs.

• The features of Hemochromatosis are due to presence of toxic iron in pro-oxidant form in surroundings of parenchymatous tissue cells of the liver and other organs, where it can cause oxidative damage and lead to cirrhosis, hypogonadism, diabetes, cardiomyopathy, arthropathy, and skin pigmentation.

• Hereditary hemochromatosis can occur when a person inherits two mutated copies of a gene called the HFE gene — one from each parent. Men and women have the same chance of inheriting two copies of this gene.

• Not everyone who is born with two copies of the mutated HFE gene develops the disease. Scientists do not know what percentage of people who have two copies of the mutated HFE gene develop the disease. Some studies have shown that as few as 1 in 100 people will develop symptoms. Other studies have shown that as many as 50 in 100 people may develop symptoms.

• A person with only one copy of the mutated HFE gene is usually healthy and is said to be a “carrier” of the genetic condition. Although a carrier usually does not have hemochromatosis, if both a mother and father are carriers, a child may inherit two copies of the mutated gene, one from each parent.

Following are classes which have their respective causes:

Entral:

• The entral source of hemochromatosis is hereditary hemochromatsis. Genes involved are

Description	OMIM	Mutation	Locus
Haemochromatosis type 1: "classical"-haemochromatosis	235200	HFE	6p21.3
Haemochromatosis type 2A: juvenile haemochromatosis	602390	hemojuvelin ("HJV", also known as HFE2)	1q21
Haemochromatosis type 2B: juvenile haemochromatosis	606464	hepcidin antimicrobial peptide (HAMP) or HFE2B	19q13
Haemochromatosis type 3	604720	transferrin receptor-2 (TFR2 or HFE3)	7q22
Haemochromatosis type 4 autosomal dominant haemochromatosis (all others are recessive), gene mutation	604653	ferroportin (SLC11A3)	2q32

Paraentral:

• Paraentral haemochromatosis refers to patients who get multiple blood transfusions.

Placental:

• Placental haemochromatosis/Neonatal hemochromatosis to condition in which fetus has deposited iron in it's hepatic and or extra-hepatic tissue pathologically.

• Gestational alloimmune liver disease is cause of fetal liver injury that occurs in all cases of Neonatal hemochromatosis.

• In fetus the level of TFR1, transferrin, and ferritin is found high.

• It is unclear what is the cause but it is believed that fetal blood extracts more iron from maternal blood.

• As the fetal liver is damaged, it causes decreased levels of Hepcidin.