Candidate Gene for Hyperferritinemia

Launched by UNIVERSITY OF MILANO BICOCCA · Dec 12, 2022

Keywords

ClinConnect Summary

This clinical trial is studying a condition called hyperferritinemia, which means there is too much ferritin, a protein that stores iron, in the blood. Sometimes, high levels of ferritin don’t actually mean there’s too much iron in the body, and the causes can vary widely, including liver disease or inflammation. The researchers are specifically looking at a gene called STAB1 to see if mutations in this gene are linked to hyperferritinemia without excess iron. They hope to develop tests that can better identify this condition.

To participate in this trial, you need to be between 65 and 74 years old or between 29 and 219 years old, and you should have very high ferritin levels (over 1000 g/L for men and over 500 g/L for women) but low transferrin saturation (less than 45%), with no signs of iron overload in your liver. If you decide to join, you will undergo tests for glycosylated ferritin and the STAB1 protein, along with genetic testing. This research could help improve understanding and diagnosis of hyperferritinemia, leading to better management options for patients like you.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• Among patients referred to the Center for Rare Diseases of Monza will be enrolled only subjects with:
• • ferritin \> 1000 g / L in men and \> 500 g / L,
• • transferrin saturation \<45%
• • absence of hepatic iron overload, evaluated by liver biopsy or MRI, as indicated in the attached flow chart.
• Exclusion Criteria:
• Patients with hyperferritinemia attributable to:
• • genetically determined causes \[mutations in the HFE gene (homozygosity or heterozygosity for p.Cys282Tyr, homozygosity for p.His63Asp or compound heterozygosity for variants of p.Cys282Tyr and p. His63Asp), ferroportin and L-Ferritin gene mutations\];
• • presence of more than one component of metabolic syndrome (according to NCEP-ATPIII criteria: triglycerides \>150 mg/dL, blood glucose \>100 mg/dL, HDL \<40 mg/dL in men and \<50 mg/dL in women, waist circumference \>102 cm in men and \>88 cm in women; blood pressure ≥130/≥85 mm/Hg);
• • alcohol intake \>5 g/day chronic hepatitis,
• • history of blood transfusion or parenteral iron treatment,
• • late skin porphyria,
• • hyperthyroidism,
• • presence of cataracts or family history of early-onset cataracts
• • acute or chronic inflammatory disorders.