Results 31 to 40 of about 10,302 (227)

Asymptomatic hemochromatosis case with HFE c.1007−47G>A, c.340+4T>C heterozygous mutations and alpha globin −3.7 kb deletion

Egyptian Journal of Medical Human Genetics, 2018
Background: Hereditary hemochromatosis is a disease associated with iron deposition which is caused by the mutations in “hereditary Fe (iron)” (HFE) gene. Case: The 16-year-old male patient was diagnosed with hereditary hemochromatosis after c.1007−47G>A
Vesile Deniz Çelik, Betul Orhan Kiliç, Yasemin Ardiçoğlu Akişin, Fatma Ajlan Tükün, Nejat Akar   +4 more
doaj   +1 more source

A farewell to phlebotomy—use of placenta-derived drugs Laennec and Porcine for improving hereditary hemochromatosis without phlebotomy: a case report

Journal of Medical Case Reports, 2022
Background Human hepcidin, produced by hepatocytes, regulates intestinal iron absorption, iron recycling by macrophages, and iron release from hepatic storage.
Yuki Hamada, Eiichi Hirano, Koji Sugimoto, Keizo Hanada, Taiichi Kaku, Naoki Manda, Kenichi Tsuchida   +6 more
doaj   +1 more source

Biophysical and Cell Biological Studies Characterizing the Vertebrate Iron Exporter Ferroportin [PDF]

, 2009
Mammalian iron homeostasis is maintained by an intricate network of diverse proteins that constantly survey systemic iron levels and carefully regulate the uptake of iron from the diet. Control of this uptake is critically important because once iron is
Rice, Adrian Edward
core   +1 more source

Hereditary hemochromatosis

Seminars in Hematology, 2002
Hereditary hemochromatosis (hh, type 1 hemochromatosis) is an autosomal recessive trait characterized by hyperabsorption of dietary iron. The disease trait occurs in approximately five per thousand Caucasians of northern European descent. The causative gene, designated HFE, was isolated and characterized in 1996; most individuals with hh are homozygous
Richard S, Ajioka, James P, Kushner
openaire   +4 more sources

Hereditary Hemochromatosis.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2016
To describe the clinical and laboratory features of hereditary hemochromatosis associated liver disease in a tertiary care hospital.Observational study.The Aga Khan University Hospital, Karachi, from January 2002 to October 2012.Charts of patients with Hereditary Hemochromatosis (HHC) were reviewed.
Parkash, Om, Akram, Muhammad
  +8 more sources

Hereditary hemochromatosis associated with autoimmune hemolytic anemia; A case report [PDF]

Journal of Preventive Epidemiology, 2019
Hereditary hemochromatosis is a disease associated with highly iron overload. This disease caused by genetic mutations inherited through family. Autoimmune hemolytic anemia is also an important autoimmune disease in which red blood cells (RBC) are ...
Masih Falahatian, Mohammad Reza Khosravi Farsani, Ali Hajigholami   +2 more
doaj  

Molecular pathogenesis of hereditary hemochromatosis [PDF]

, 2016
. Hereditary hemochromatosis (HH) is an inherited iron overload disorder characterized by normal iron-driven erythropoiesis and abnormal iron metabolism, leading to excess iron deposited in parenchymal cells of liver, heart, and endocrine glands ...
Abdullahi, Mohamud Abukar Haji, Jiang, Chunmeng, Liu, Jingqi, Pu, Chunwen, Lang, Lang, Qiao, Liang   +5 more
core   +1 more source

Disseminated cryptococcosis and hemochromatosis: clues to diagnosis

Autopsy and Case Reports, 2021
Hepatic cirrhosis, diabetes mellitus and iron overload can each independently predispose to cryptococcosis. Hereditary hemochromatosis leads to all three of these predispositions.
Larry Nichols, Lindsey Rowley, Ashley Lall   +2 more
doaj  

Hepatocarcinoma with tumor thrombus occupying the right atrium and portal vein in a patient with hereditary hemochromatosis and liver cirrhosis

Journal of Mind and Medical Sciences, 2018
We present the case of a 46-year old patient with Child-Pugh class C cirrhosis with MEDL-Score 16, and hepatocellular carcinoma invading the inferior vena cava and the right atrium.
Olga Hilda Orasan, Andreea Maria Stefan, Laura Urian, Anca Mihailov, Ovidiu Fabian, Flaviu Muresan, Iulia Breaban, Sorina Cezara Secara, Simina Tarmure Sarlea, Vasile Negrean, Dorel Sampelean, Angela Cozma   +11 more
doaj   +1 more source

Discrepancy between Serum Ferritin and Liver Iron Concentration in a Patient with Hereditary Hemochromatosis – The Value of T2* MRI

Case Reports in Oncology, 2020
Primary hemochromatosis is an inherited disorder, and the homeostatic iron regulator (HFE) gene C282Y mutation is a common cause of hemochromatosis in Europe. We are reporting a case of a 56-year-old female known to have hemochromatosis with the HFE gene
Mustafa A. Al-Tikrity, Mohamed A. Yassin
doaj   +1 more source