Cause 8. Genetic Factors: The Role of Family History
Genetic factors can play a significant role in the development of pernicious anemia. Some individuals may inherit a predisposition to this condition due to specific gene mutations or abnormalities. These genetic factors can influence the body’s ability to produce intrinsic factor, a protein that is necessary for the absorption of vitamin B12, or impact the absorption of the vitamin itself.
Research has identified a strong link between certain genetic mutations and the development of pernicious anemia. For instance, mutations in the GIF gene, which is responsible for encoding the intrinsic factor protein, can lead to a deficiency of this crucial protein. As a result, individuals with these mutations may struggle to absorb sufficient amounts of vitamin B12 from their diet, leading to pernicious anemia.
Additionally, genetic factors can influence the absorption of vitamin B12 by affecting the proteins responsible for transporting the vitamin across the gastrointestinal tract. Mutations in the genes encoding these proteins, such as CUBN and TCN2, can impair the body’s ability to absorb and utilize vitamin B12 effectively.
To identify individuals at risk for pernicious anemia due to genetic factors, healthcare providers may recommend genetic testing. If a genetic predisposition is detected, proactive measures can be taken to prevent the development of pernicious anemia. These measures may include regular monitoring of vitamin B12 levels, dietary adjustments, and supplementation as needed. (8)
