A brief communication of patients with homozygous C282Y mutation-related hereditary hemochromatosis

被引:0
|
作者
Gokcan, Hale [1 ]
Oz, Didem Kuru [2 ]
Bodakci, Emin [1 ]
Tunc, Esra [3 ]
Idilman, Ramazan [1 ,3 ]
机构
[1] Ankara Univ, Sch Med, Dept Gastroenterol, Ankara, Turkiye
[2] Ankara Univ, Sch Med, Dept Radiol, Ankara, Turkiye
[3] Ankara Univ, Sch Med, Inst Hepatol, Ankara, Turkiye
来源
HEPATOLOGY FORUM | 2024年 / 5卷 / 03期
关键词
C282 Y homozygous mutation; hereditary hemochromatosis; HFE gene; ASSOCIATION; DIAGNOSIS;
D O I
10.14744/hf.2024.2024.0020
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Hereditary hemochromatosis (HH) is an autosomal recessive inherited iron-loading disorder and is characterized by chronic hepatitis, cirrhosis, diabetes, and bronze skin. The hemochromatosis gene (C282Y homozygosity)-related hemochromatosis is the most common form of HH. The prevalence of HH is varied. Here, we defined six cases with C282Y homozygosity-related HH in a single center in Turkiye.
引用
收藏
页码:161 / 164
页数:4
相关论文
共 50 条
  • [41] HFE C282Y/H63D Compound Heterozygotes Are at Low Risk of Hemochromatosis-Related Morbidity
    Gurrin, Lyle C.
    Bertalli, Nadine A.
    Dalton, Gregory W.
    Osborne, Nicholas J.
    Constantine, Clare C.
    McLaren, Christine E.
    English, Dallas R.
    Gertig, Dorota M.
    Delatycki, Martin B.
    Nicoll, Amanda J.
    Southey, Melissa C.
    Hopper, John L.
    Giles, Graham G.
    Anderson, Gregory J.
    Olunyk, John K.
    Powell, Lawrie W.
    Allen, Katrina J.
    HEPATOLOGY, 2009, 50 (01) : 94 - 101
  • [42] Compound heterozygote (C282Y/H63D) of hereditary Hemochromatosis in a 16-year-old girl with hypoplastic kidney
    Kaczorowska-Hac, Barbara
    Sikorska, Katarzyna
    Bielawski, Krzysztof P.
    Schramm, Krystyna
    Balcerska, Anna
    INTERNATIONAL JOURNAL OF HEMATOLOGY, 2007, 85 (04) : 300 - 303
  • [43] Expression of hereditary hemochromatosis C282Y HFE protein in HEK293 cells activates specific endoplasmic reticulum stress responses
    Matthew W Lawless
    Arun K Mankan
    Mary White
    Michael J O'Dwyer
    Suzanne Norris
    BMC Cell Biology, 8
  • [44] Effect of standard phlebotomy on myocardial and hepatic iron levels in newly diagnosed cardiac asymptomatic hereditary hemochromatosis subjects with C282Y homozygosity
    Shizukuda, Yukitaka
    Bandettini, W. Patricia
    Rosing, Douglas R.
    EJHAEM, 2023, 4 (02): : 544 - 547
  • [45] Correlation between iron status and genetic hemochromatosis (Codon C282Y) in a large German population
    Wrede, CE
    Hutzler, S
    Bollheimer, LC
    Buettner, R
    Hellerbrand, C
    Schöelmerich, J
    Palitzsch, KD
    ISRAEL MEDICAL ASSOCIATION JOURNAL, 2004, 6 (01): : 30 - 33
  • [46] Cardiac Magnetic Resonance at 3.0 T in Patients With C282Y Homozygous Hereditary Hemochromatosis Superiority of Radial and Circumferential Strain Over Cardiac T2*Measurements at Baseline and at Post Venesection Follow-up
    Byrne, Danielle
    Walsh, John P.
    Murphy, Ross T.
    McMorrow, Jason
    Fagan, Andrew J.
    Poetrzyk, Aneta Kecler
    Durand, Michael E.
    Norris, Suzanne
    McKiernan, Susan
    King, Gerard
    Meaney, James F.
    Daly, Caroline
    JOURNAL OF THORACIC IMAGING, 2022, 37 (05) : 300 - 306
  • [47] Prevalence of HFE (hemochromatosis) gene mutations C282Y and H63D in a Romanian population
    Voicu, P. -M.
    Cojocariu, C.
    Petrescu-Danila, E.
    Covic, M.
    Stanciu, C.
    Rusu, M.
    BLOOD CELLS MOLECULES AND DISEASES, 2009, 42 (01) : 14 - 15
  • [48] Decreased Iron Burden in Overweight C282Y Homozygous Women: Putative Role of Increased Hepcidin Production
    Desgrippes, Romain
    Laine, Fabrice
    Morcet, Jeff
    Perrin, Michele
    Manet, Ghislain
    Jezequel, Caroline
    Bardou-Jacquet, Edouard
    Ropert, Martine
    Deugnier, Yves
    HEPATOLOGY, 2013, 57 (05) : 1784 - 1792
  • [49] Transplantation of a Liver With the C282Y Mutation into a Recipient Heterozygous for H63D Results in Iron Overload
    Ismail, Mohammad K.
    Martinez-Hernandez, Antonio
    Schichman, Steven
    Chaudhry, Sufiyan
    Waters, Bradford
    AMERICAN JOURNAL OF THE MEDICAL SCIENCES, 2009, 337 (02) : 138 - 142
  • [50] Hemochromatosis (HFE) genotype and atherosclerosis: Increased susceptibility to iron-induced vascular damage in C282Y carriers?
    Engberink, Marielle F.
    Povel, Cecile M.
    Durga, Jane
    Swinkels, Dorine W.
    de Kort, Wim L. A. M.
    Schouten, Evert G.
    Verhoef, Petra
    Geleijnse, Johanna M.
    ATHEROSCLEROSIS, 2010, 211 (02) : 520 - 525