Heart failure of very rare aetiology-haemochromatosis Type 3: a case report.

Background: Haemochromatosis is a pathological condition characterized by the accumulation of iron in parenchymal organs, leading to toxic damage and dysfunction. Cardiac haemochromatosis represents one of the rare causes of severe heart failure (HF) that can be potentially prevented with targeted treatment.

Case Summary: We present the case of a 41-year-old female who was hospitalized for decompensated HF.

Convolutional neural networks for automatic MR classification of myocardial iron overload in thalassemia major patients.

Objectives: To develop a deep-learning model for supervised classification of myocardial iron overload (MIO) from magnitude T2* multi-echo MR images.

Materials And Methods: Eight hundred twenty-three cardiac magnitude T2* multi-slice, multi-echo MR images from 496 thalassemia major patients (285 females, 57%), labeled for MIO level (normal: T2* > 20 ms, moderate: 10 ≤ T2* ≤ 20 ms, severe: T2* < 10 ms), were retrospectively studied. Two 2D convolutional neural networks (CNN) developed for multi-slice (MS-HippoNet) and single-slice (SS-HippoNet) analysis were trained using 5-fold cross-validation.

[Analysis of clinical, gene mutation characteristics, and treatment prognosis of type 2A hereditary hemochromatosis in the Chinese population].

To analyze the clinical, genetic mutation characteristics, and treatment prognosis of type 2A hereditary hemochromatosis (HH) in China. Peripheral blood samples and clinical data of patients with primary iron overload were collected through the China Registry of Genetic/Metabolic Liver Disease from June 2015 to November 2023. HH-related genes were detected by Sanger sequencing.

Computed Tomography and Magnetic Resonance Imaging in Liver Iron Overload: From Precise Quantification to Prognosis Assessment.

Liver iron overload is associated with conditions such as hereditary hemochromatosis, thalassemia major, and chronic liver diseases. The liver-related outcomes, patient outcomes, and treatment recommendations of these patients differ depending on the cause and extent of iron overload. Accurate quantification of the liver iron concentration (LIC) is critical for effective patient management.

Impact of body fat composition on liver iron overload severity in hemochromatosis: a retrospective MRI analysis.

Purpose: To evaluate the correlation between ectopic adipose tissue and iron overload severity in patients with hemochromatosis.

Material And Methods: A retrospective cohort of 52 patients who underwent liver iron concentration quantification from January 2015 to October 2023 using a 3.0T MRI scanner.

Hemochromatosis neural archetype reveals iron disruption in motor circuits.

Our understanding of brain iron regulation and its disruption in disease is limited. Excess iron affects motor circuitry, contributing to Parkinson's disease (PD) risk. The molecular mechanisms regulating central iron levels, beyond a few well-known genes controlling peripheral iron, remain unclear.

Neonatal Liver Imaging: Techniques, Role of Imaging, and Indications.

The neonatal liver may be affected by a variety of congenital and acquired diseases. Imaging has an important role in the workup and management of many neonatal hepatic abnormalities. Some aspects of imaging the liver and imaging findings are specific to neonatal patients when compared with those in older children.

A Prospective Study on the Prevalence of MASLD in Patients With Type 2 Diabetes and Hyperferritinaemia.

Background: Elevated levels of serum ferritin, a marker of hepatic iron overload and inflammation, may be associated with metabolic dysfunction-associated steatotic liver disease (MASLD) and hepatic fibrosis.

Aim: To determine the prevalence of MASLD and significant hepatic fibrosis among patients with type 2 diabetes mellitus (T2DM) and hyperferritinaemia.

Methods: This is a cross-sectional analysis of a prospective cohort of 523 adults (64% female) aged 50-80 with T2DM and without a diagnosis of haemochromatosis.

[Hyperferritinemia - investigation, diagnosis and treatment].

Ferritin is one of the most requested blood tests in both primary and inpatient care, and high values occur frequently. One of the greatest challenges in the investigation of hyperferritinemia is to determine if there is a presence of iron overload. Patient history (chronic liver disease, excessive alcohol consumption, hereditary factors), clinical features (metabolic syndrome, acute or chronic inflammation, infection, malignancy) and biochemical tests (ferritin, transferrin saturation, hemoglobin, liver enzymes, CRP/SR, phosphatidyl ethanol, lipid profile, glucose) facilitate the determination of the cause of hyperferritinemia.

[Chinese guidelines for the diagnosis and treatment of hereditary hemochromatosis].

Hereditary hemochromatosis is an iron overload disease caused by mutations in iron-regulating genes, resulting in excessive iron deposition in organs such as the liver, heart, skin, pancreas, and gonads, leading to corresponding multi-system damage. This condition is relatively common in European and American populations, primarily caused by mutations in the HFE gene; however, it is rare in China and other Asian countries, almost exclusively due to mutations in non-HFE genes. Clinical features include unexplained chronic hepatitis or cirrhosis, accompanied by elevated serum ferritin and/or increased transferrin saturation.

Bacterial siderophores: diversity, uptake pathways and applications.

Iron is an essential nutrient for the growth, survival and virulence of almost all bacteria. To access iron, many bacteria produce siderophores, molecules with a high affinity for iron. Research has highlighted substantial diversity in the chemical structure of siderophores produced by bacteria, as well as remarkable variety in the molecular mechanisms involved in strategies for acquiring iron through these molecules.

Magnetic resonance mapping for the assessment of cardiomyopathies and myocardial disease.

In recent years, the use of cardiac magnetic resonance (CMR) has grown exponentially in clinical practice. The keys for this success are represented by the possibility of tissue characterization, cardiac volumes and myocardial perfusion assessment, biventricular function evaluation, with no use of ionizing radiations and with an extremely interesting profile of reproducibility. The use of late gadolinium enhancement (LGE) nearly compares a non-invasive biopsy for cardiac fibrosis quantification.

Cardiac Manifestations of Hemochromatosis.

Cardiac hemochromatosis, a consequence of primary or secondary iron-overload conditions, poses a threat to patient health, leading to cardiomyopathy and heart failure. This review aims to compile comprehensive information on cardiac hemochromatosis, elucidating its pathophysiology, clinical presentation, diagnosis, and management strategies. Primary and secondary hemochromatosis, genetic and acquired forms, can result in cardiotoxicity by means of iron dysregulation.

Extrahepatic Iron Loading Associates With the Propensity to Develop Advanced Hepatic Fibrosis in Hemochromatosis.

Background And Aims: Hemostatic iron regulator-hemochromatosis can result in progressive iron-loading and advanced hepatic fibrosis in some individuals. We studied total body and hepatic iron loading to determine whether the distribution of iron-loading influences the risk of advanced fibrosis.

Methods: One hundred thirty-eight men and 66 women with hemochromatosis who underwent liver biopsy for staging of hepatic fibrosis had evaluation of hepatic iron concentration (HIC), hepatic iron index (HIC/age), total body iron stores (mobilizable iron), and mobilizable iron/HIC ratio (a marker of total body iron relative to hepatic iron).

Hereditary haemochromatosis: Prevalence and characterization of the disease in a tertiary hospital in Aragon, Spain.

Background: The main genetic cause of iron overload is haemochromatosis (HC). In recent years, the study of non-HFE genes (HFE2, HJV, HAMP, TRF2, SLC40A1, and BMP6) has become relevant thanks to next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) techniques. Our objectives were to estimate the prevalence of both HFE (C282Y/HY63D variants) and non-HFE variants attending a tertiary hospital in Aragón, to predict the effect of the variants on the protein, and to establish a genotype-phenotype correlation evaluating with the clinical context.

The relationship between liver stiffness by two-dimensional shear wave elastography and iron overload status in transfusion-dependent patients.

Increased liver stiffness (LS) can be result of increased liver iron concentration (LIC) which may not yet be reflected in the liver fibrotic status. The objective of our study was to examine relationship between hemochromatosis, LS, and serum ferritin level in transfusion-dependent patients. We recruited all 70 transfusion-dependent patients, whose median age was 15, referred for evaluating LIC status by magnetic resonance imaging (MRI) followed by two-dimensional ultrasonography shear wave elastography (2D-SWE).

Unique presentation of neonatal liver failure: A case report.

Background: Acute fulminant liver failure rarely occurs in the neonatal period. The etiologies include viral infection (15%), metabolic/genetic disease (10%), hematologic disorders (15%), and ischemic injury (5%). Gestational alloimmune liver disease usually manifests as severe neonatal liver failure, with extensive hepatic and extrahepatic iron overload, sparing the reticuloendothelial system.

SLC40A1-related hemochromatosis associated with a p.Y333H mutation in mainland China: a pedigree report and literature review.

Background: Haemochromatosis is a genetic disease characterized by the excessive deposition of iron in various tissues and organs, eventually results in organ damage including cirrhosis, diabetes, cardiomyopathy, etc. SLC40A1-related haemochromatosis is associated with gain-of-function mutations in the SLC40A1 gene, which encodes ferroportin. While sporadic reports of this condition exist in mainland China, the understanding of the phenotype and genetic pattern associated with the SLC40A1 p.