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Active clinical trials for "Hyperferritinemia"

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Candidate Gene for Hyperferritinemia

Hyperferritinemia

Ferritin is a ubiquitous protein capable of storing iron in the cell cytosol. Stored iron is released and made available for cellular needs by the degradation of ferritin itself. Small amounts of ferritin are present in the blood and consist of ferritin L, a glycosylated form of L called ferritin G, and trace amounts of ferritin H. It is secreted mainly by macrophages, hepatocytes, and lymphoid cells, but most aspects of its secretion remain not fully elucidated. Serum ferritin has broad clinical utility primarily as an indicator of iron stores, so low values of serum ferritin are indicative of a deficient state and high values of iron overload. However, the causes of increased serum ferritin are numerous, in many cases serum ferritin is increased disproportionately to iron stores such as in acute and chronic liver disease, infectious and inflammatory states, metabolic disorders, and high alcohol intake that are frequently observed in the clinical setting. Therefore, the diagnosis of hyperferritinemia requires a careful strategy including personal and family history, biochemical, instrumental, and targeted genetic testing. In fact, there are rare forms of genetically determined hyperferritinemia not associated with iron overload, such as hereditary cataract hyperferritinemia syndrome (HHCS) due to mutations in the Iron responsive Element (IRE) located in the 5' untranslated region of the FTL gene. More recently, a second dominant form of genetic hyperferritinemia without iron overload or cataract (benign hyperferritinemia) has been identified. Preliminary results obtained so far have made it possible, through WES analysis, to identify the involvement of the STAB1 gene, which was found to be mutated in the studied subjects in whom reduced serum ferritin glycosylation and reduced plasma concentration of the protein itself were observed. It is therefore deemed necessary to proceed with the assay of glycosylated ferritin and the protein encoded by the gene to assess its sensitivity and specificity as a predictive test before performing the genetic analysis of STAB1. To achieve this goal, patients with undefined hyperferritinemia afferent to the SSD Rare Diseases of the IRCCS San Gerardo Foundation in whom to perform glycosylated ferritin and STAB1 protein assay in parallel with STAB1 sequencing will be evaluated. Similar investigations will be performed in a control group consisting of cases of hyperferritinemia due to genetically determined iron overload.

Recruiting13 enrollment criteria

Quality and Biologic Characteristics of Red Blood Concentrates Obtained From Individuals With Elevated...

Hereditary HemochromatosisHyperferritinemia

Iron overload in hereditary hemochromatosis (HH) is treated by phlebotomy. It is unclear, if individuals with hyperferritinemia due to hereditary hemochromatosis or to secondary causes are suitable as blood donors. The study investigates hemolysis and several other quality parameters of red blood cell concentrates (RBC) obtained from 80 individual with ferritin >500 ng/mL - due to hereditary hemochromatosis or secondary - and 20 healthy blood donors as control.

Enrolling by invitation15 enrollment criteria

Effect of Therapeutic Phlebotomies on the Triglycerides Concentration in Patients With Hypertriglyceridemia...

HyperferritinemiaHypertriglyceridemia

The purpose of this study is to evaluate the effect of iron depletion with phlebotomies on blood triglyceride concentration, in subjects with hypertriglyceridemia and iron overload, compared with a dietary intervention alone. All subjects in this study will follow dietary and lifestyle counseling in a period of 3 months. A randomized group will receive phlebotomies every 3 weeks in this period.

Completed7 enrollment criteria

Respiratory Variations for Assessing Blood Withdrawal 2

Dysmetabolic SyndromeHyperferritinemia1 more

OBJECTIVES: To investigate whether respiratory variations of the inferior vena cava (ΔIVC) and internal jugular vein (ΔIJV) diameters during standardized breathing (ΔIVCST and ΔIJVST) increase after a therapeutic bleeding in spontaneously breathing and obese patients with dysmetabolic hyperferricemia. DESIGN: Prospective, monocentric study in the EFS Nord-de-France blood center. PATIENTS: Obese patients with dysmetabolic hyperferricemia undergoing a therapeutic bleeding. INTERVENTIONS: The investigators performed ultrasound measures and collected clinical parameters before and after a therapeutic bleeding, during a standardized respiratory maneuver. MAIN OUTCOME AND MEASURES: The primary endpoint was the ΔIVCST change induced by a 300 to 500ml therapeutic bleeding. The investigators measured the minimal and maximal IVC and IJV diameters during a standardized respiratory maneuver. ΔIVCST and ΔIJVST were calculated as follows: [(maximal diameter - minimal diameter)/maximal diameter].100.

Terminated8 enrollment criteria
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