Pathogenic Mechanisms Underlying Iron Deficiency and Iron Overload: New Insights for Clinical Application

Area of Science:

• Genetics
• Nutritional Science
• Molecular Biology

Background:

• Iron metabolism is regulated at the genetic level, influencing individual requirements and dietary responses (nutrigenetics).
• Common iron-related disorders include deficiency, overload, and anemia of inflammation.
• Hereditary iron overload, particularly hereditary hemochromatosis (HH), is strongly linked to genetic factors.

Purpose of the Study:

• To review the genetic basis of iron metabolism disorders.
• To highlight the importance of genetic testing in diagnosing and managing iron overload conditions.
• To provide scientific evidence for pathology-supported genetic testing in optimizing patient iron status.

Main Methods:

• Review of scientific literature on iron metabolism, genetics, and iron-related disorders.
• Analysis of the role of the HFE gene in hereditary iron overload.
• Discussion of diagnostic advancements in hereditary hemochromatosis.

Main Results:

• Deleterious mutations in the HFE gene cause 80-90% of inherited iron overload, leading to loss of homeostasis.
• Genetic elucidation of HH has reduced the need for liver biopsies in diagnosis.
• Genetic predisposition detection, alongside high ferritin and transferrin saturation, aids HH diagnosis.

Conclusions:

• Genetic factors play a critical role in iron homeostasis and the development of iron disorders.
• Pathology-supported genetic testing offers a promising approach for optimizing clinical benefits in iron status management.
• Early genetic diagnosis of conditions like HH can prevent severe health consequences.