Results 11 to 20 of about 37,295 (215)
Exploring the experiences of hemochromatosis (HHC) patients who undergo therapeutic venesection at a blood collection agency [PDF]
Transfusion, Volume 65, Issue 3, Page 531-538, March 2025.Abstract Background People with hereditary hemochromatosis (HHC) require therapeutic phlebotomy on an ongoing basis. Little is known about the facilitators and barriers they experience in donating at a blood collection agency (BCA), nor how these impact their willingness to engage in an ongoing relationship with a BCA.
Rachel Thorpe +9 more
wiley +2 more sources
Sporadic Porphyria Cutanea Tarda, Cutaneous Sarcoidosis, and Compound Heterozygosity of HFE Mutations Cys282Tyr and His63Asp—A Case Report [PDF]
eJHaem, Volume 6, Issue 3, June 2025.ABSTRACT Porphyria cutanea tarda (PCT) is caused by inherited or acquired defects of uroporphyrinogen decarboxylase (UROD) in the heme biosynthetic pathway. Altered iron homeostasis via hemochromatosis gene (HFE) mutations is one of many susceptibility factors associated with the sporadic form of PCT.
Jowon L. Kim +3 more
wiley +2 more sources
The oral ferroportin inhibitor vamifeport prevents liver iron overload in a mouse model of hemochromatosis [PDF]
HemaSphereHemochromatosis is an inherited iron overload condition caused by mutations that reduce the levels of the iron‐regulatory hormone hepcidin or its binding to ferroportin.
Naja Nyffenegger +7 more
doaj +2 more sources
An unusual dyspnea in an 87-year old woman affected by Sjögren’s syndrome [PDF]
Beyond Rheumatology, 2021 Primary Sjögren’s syndrome (pSS) is a progressive autoimmune disease and is characterized by eye and mouth dryness due to lymphocytic infiltration in lacrimal and salivary glands leading to tissue destruction, but it can also present systemic ...
Carlo Grendene +4 more
doaj +1 more source
The contribution of diet and genotype to iron status in women:a classical twin study [PDF]
, 2013 This is the first published report examining the combined effect of diet and genotype on body iron content using a classical twin study design. The aim of this study was to determine the relative contribution of genetic and environmental factors in ...
Alexander J. Macgregor +27 more
core +17 more sources
Iron in Porphyrias: Friend or Foe?
Diagnostics, 2022 Iron is a trace element that is important for many vital processes, including oxygen transport, oxidative metabolism, cellular proliferation, and catalytic reactions. Iron supports these functions mainly as part of the heme molecule. Heme synthesis is an
Elena Buzzetti +2 more
doaj +1 more source
Acta Marisiensis - Seria Medica, 2022 Objective: Hereditary hemochromatosis, or primary hemochromatosis, is a recessive genetic liver disorder caused by iron accumulation in tissues. This study evaluates patients with hereditary hemochromatosis to determine correlations between clinical and ...
Sigmirean Victor
doaj +1 more source
Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene
Case Reports in Pediatrics, 2022 Hemochromatosis type 2 or juvenile hemochromatosis has an early onset of severe iron overload resulting in organ manifestation such as liver fibrosis, cirrhosis, cardiomyopathy, arthropathy, hypogonadism, diabetes, osteopathic medicine, and thyroid ...
María-Belén Moreno-Risco +5 more
doaj +1 more source
Blood Science, 2023 Hemochromatosis, either hereditary hemochromatosis (HH) or secondary hemochromatosis, consists of the accumulation of iron in the liver, heart, and other organs. It leads to end-organ damage in a proportion of affected subjects.
Ahmad Abou Yassine +8 more
doaj +1 more source
Idiopathic neonatal haemochromatosis: A case report [PDF]
, 2011 A case of neonatal hemochromatosis is reported in a premature 35-week infant who presented at birth with coffee ground vomiting and gradual appearance of grayish icter and colorless stool.
Alaee, E., Besharat, S., Zahedpasha, Y.
core +1 more source