Results 71 to 80 of about 9,300 (174)

Hereditary Hemochromatosis: Pathophysiological Basis and Emerging Therapeutic Approaches—A Systematic Review of Clinical Evidence

Future Pharmacology
Introduction: Hereditary hemochromatosis is a genetic disorder characterized by dysregulation of iron homeostasis, resulting in excessive intestinal iron absorption and progressive iron deposition in vital organs.
Victor Cardoso Jacinto da Silva, Janaina Pereira Dina Toreli, Edimar Cristiano Pereira, Araceli Aparecida Hastreiter, Beatriz Alves, Thais Gascon, Glaucia Raquel Luciano da Veiga, Samantha Sanchez de Carvalho, Fernando Luiz Affonso Fonseca   +8 more
doaj   +1 more source

HEREDITARY HEMOCHROMATOSIS: A RARE DISEASE OR A DIFFICULT DIAGNOSIS FOR A GENERAL PRACTITIONER?

Медицина в Кузбассе
Hemochromatosis is a hereditary disease belonging to the group of storage diseases characterized by impaired iron metabolism with its pathological accumulation in vital organs, including the liver.
Александра Валерьевна Морозова, Ольга Александровна Морозова, Николай Андреевич Бичан   +2 more
doaj  

Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload

Haematologica, 2006
The p.M172K TFR2 mutation was identified in two Italian siblings aged 32 and 40 years old with primary iron overload. The two patients showed a severe increase in serum iron indices.
S Majore, F Milano, F Binni, L Stuppia, A Cerrone, A Tafuri, C De Bernardo, G Palka, P Grammatico   +8 more
doaj  

HFE Gene Mutations as Predisposing Factors for Childhood Acute Lymphoblastic Leukaemia in Iraqi Patients

مجلة علوم ذي قار
Hemochromatosis is a prevalent hereditary disorder that causes excess iron to build up in the body to dangerous levels. Hereditary hemochromatosis, also known as HFE-related hemochromatosis is carried on by changes in the HFE gene.
Thanaa Kalil Ibrahim, Intisar Albandar, Shilan Jabbar, Raghda Khalid   +3 more
doaj   +1 more source

Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families

Haematologica, 2005
Juvenile hemochromatosis is a severe form of hereditary iron overload. It can be caused by mutations in either hepcidin or hemojuvelin genes. In this study we identified the molecular basis of juvenile hemochromatosis in three Australian families and ...
DF Wallace, JL Dixon, GA Ramm, GJ Anderson, LW Powell, N Subramaniam   +5 more
doaj  

Hemochromatosis and Heart Involvement

Архивъ внутренней медицины
Hemochromatosis is a life-threatening condition if left untreated, that is caused by excess iron in the body. It can be primary (hereditary) hemochromatosis, resulting from genes mutations, and secondary (acquired) as a result of excessive intake of iron
E. V. Reznik, M.H. E. Laouar, V. Yu. Voinova, G. N. Golukhov   +3 more
doaj   +1 more source

Cell surface expression of HFE protein in epithelial cells, macrophages, and monocytes

Haematologica, 2000
BACKGROUND AND OBJECTIVE: Most patients with hereditary hemochromatosis are homozygous for a Cys282AETyr mutation in the HFE gene. This mutation has been shown to impair the association of the HFE gene product with b(2)-microglobulin and to prevent its ...
S Parkkila, AK Parkkila, A Waheed, RS Britton, XY Zhou, RE Fleming, S Tomatsu, BR Bacon, WS Sly   +8 more
doaj  

Bronze Diabetes in Congenital Dyserythropoietic Anemia Type 2: A Case Report

Journal of Diabetology
Secondary diabetes is caused by endocrine, pancreatic or hereditary disorders or certain medications which affect insulin secretion or action or both.
Samuel Sathweek Rayapati, Varun Damle, Sengottuvel Kayalvizhi, Ranjit Unnikrishnan, Viswanathan Mohan   +4 more
doaj   +1 more source

Overview of Ankle Arthropathy in Hereditary Hemochromatosis. [PDF]

Med Sci (Basel), 2023
Calori S, Comisi C, Mascio A, Fulchignoni C, Pataia E, Maccauro G, Greco T, Perisano C.   +7 more
europepmc   +1 more source

Unconfirmed hereditary hemochromatosis presenting as decompensated cirrhosis with severe hyperbilirubinemia. [PDF]

J Family Med Prim Care
Machado MF, Huynh B, Brodie B, He M, Ferreiro F.   +4 more
europepmc   +1 more source