Genetic Iron Overload Condition: Origin and Remedies
Heterozygous Hemochromatosis (HH) is a genetic condition that affects the way the body absorbs and stores iron. People with HH have one healthy gene for managing iron absorption from one parent, but the other copy from the other parent is the gene for HH.
The condition occurs due to a difference in a gene known as HFE, which regulates the synthesis of the hormone hepcidin. Hepcidin determines the amount of iron a person absorbs from their diet and how much iron their body releases from storage sites.
Some companies offer genetic testing for HH via mail-order kits, and diagnosing HH requires this genetic testing. A doctor may ask about a person's medical and family history to suspect HH. If a doctor suspects HH, they may refer a person for genetic testing.
The most common variant of heterozygous hemochromatosis in the United States is the C282Y mutation in the HFE gene. Each person has two copies of every gene, and people inherit one from each parent. There are several types of HH gene a person can inherit, with C282Y and H63D being the most common in the United States, particularly among people of Northern European descent.
Individuals with heterozygous HH are carriers and may or may not have any symptoms. Not every person with HH has symptoms, particularly those with only one copy of the associated genes. Symptoms may not show until after 40 years of age, and on average, females typically develop symptoms 10 years later than males.
Phlebotomy is the main treatment for HH, involving drawing blood to reduce iron level. The frequency of phlebotomy treatment will depend on how much a person's iron level needs to decrease. The goal of phlebotomy is to get a ferritin level of less than 100 ng/mL to maintain health.
Storage sites for excess iron include the liver, skin, pancreas, heart, joints, and pituitary gland. People who cannot have phlebotomy or are afraid of needles may benefit from chelation instead.
It's important to note that not all individuals with HH may need treatment. The decision to treat is based on a person's symptoms, iron levels, and potential for complications.
In conclusion, HH is a genetic condition that can affect iron absorption and storage in the body. Genetic testing is available to diagnose the condition, and treatments such as phlebotomy and chelation can help manage excess iron levels. If you have concerns about HH or a family history of the condition, it's recommended to discuss with a healthcare provider.
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