Hyperferritinemia associated with HFE gene mutations in Brazil.

• Grant number: 25/03124-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: April 01, 2025
• End date: March 31, 2026
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Claudia Regina Bonini Domingos
• Grantee: Ana Carolina Pereira Flausino
• Host Institution: Instituto de Biociências, Letras e Ciências Exatas (IBILCE). Universidade Estadual Paulista (UNESP). Campus de São José do Rio Preto. São José do Rio Preto , SP, Brazil

Abstract

Iron plays a fundamental role in the functionality of tissues, being acquired through food and is absorbed by intestinal cells. Once absorbed, in the intracellular portion the iron groups together to form ferritin. Ferritin has the capacity to store more than 4,000 iron atoms and can be usedas a parameter to evaluate the level of intracellular iron. The overload of this mineralcauses hyperferritinemia, which may be associated with genetic pathologies such as hemochromatosis, an autosomal recessive disease with the majority of cases related to mutations in the HFE gene with three most frequent polymorphisms being H63D, S56C and C282Y. Increased ferritin associated with hemochromatosis hereditary may influence the characteristic symptoms of the disease. To certify the relationship between hyperferritinemia and HFE gene mutations, it is necessary analyze ferritin parameters in patients with the disease. In thatstudy will use 100 blood samples from patients suspected of hemochromatosis. It will be possible to determine whether the increase in normal values ¿¿of ferritin are associated with the disease and which ferritin values ¿¿are related to different mutations.