HFE H63D gene mutation

Protein HFE PDB 1a6z

== HFE H63D Gene Mutation ==

The HFE H63D gene mutation is a genetic variation that affects the HFE gene located on chromosome 6. This mutation is associated with hereditary hemochromatosis, a disorder characterized by excessive absorption of dietary iron. Individuals with the HFE H63D mutation may have an increased risk of developing iron overload and related complications.

Genetics

The HFE gene encodes a protein that plays a key role in regulating iron absorption in the body. The HFE H63D mutation involves a substitution of the amino acid histidine (H) with aspartic acid (D) at position 63 of the HFE protein. This alteration can disrupt the normal function of the protein, leading to abnormal iron metabolism.

Clinical Significance

Individuals who carry the HFE H63D mutation may be at risk of developing iron overload, a condition characterized by excess iron accumulation in various organs such as the liver, heart, and pancreas. Iron overload can result in serious health problems, including liver cirrhosis, diabetes, and heart disease.

Diagnosis

The presence of the HFE H63D mutation can be detected through genetic testing. Testing for this mutation is often recommended for individuals with a family history of hereditary hemochromatosis or symptoms suggestive of iron overload.

Treatment

Treatment for individuals with the HFE H63D mutation focuses on managing iron levels in the body. This may involve regular monitoring of iron levels through blood tests and therapeutic phlebotomy (blood removal) to reduce excess iron stores.