Hereditary hemochromatosis: The complex role of the modifier genes

被引:3
作者
Biasiotto, Giorgio [1 ,2 ,4 ]
Carini, Mattia [1 ,2 ]
Bresciani, Roberto [1 ,2 ]
Ferrari, Fabiana [3 ]
机构
[1] Univ Brescia, Dept Mol & Translat Med, Brescia, Italy
[2] ASST Spedali Civili Brescia, Highly Specialized Lab, Brescia, Italy
[3] Poliambulanza Fdn Hosp Insitute, Pediat Mothers & Babys Hlth Dept, Brescia, Italy
[4] Univ Brescia, Mol & Translat Med Dept, Viale Europa 11, I-25123 Brescia, Italy
关键词
Hereditary hemochromatosis; HFE; Iron metabolism; Biochemical ironoverload; NGS;
D O I
10.1016/j.jtemb.2023.127248
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页数:2
相关论文
共 6 条
[1]   Genetic Diagnosis in Hereditary Hemochromatosis: Discovering and Understanding the Biological Relevance of Variants [J].
Baas, Floor S. ;
Rishi, Gautam ;
Swinkels, Dorine W. ;
Subramaniam, V. Nathan .
CLINICAL CHEMISTRY, 2021, 67 (10) :1324-1341
[2]   Cirrhosis in Hemochromatosis: Independent Risk Factors in 368 HFE p.C282Y Homozygotes [J].
Barton, James C. ;
McLaren, Christine E. ;
Chen, Wen-pin ;
Ramm, Grant A. ;
Anderson, Gregory J. ;
Powell, Lawrie W. ;
Subramaniam, V. Nathan ;
Adams, Paul C. ;
Phatak, Pradyumna D. ;
Gurrin, Lyle C. ;
Phillips, John D. ;
Parker, Charles J. ;
Emond, Mary J. ;
McLaren, Gordon D. .
ANNALS OF HEPATOLOGY, 2018, 17 (05) :871-879
[3]   Hemochromatosis classification: update and recommendations by the BIOIRON Society [J].
Girelli, Domenico ;
Busti, Fabiana ;
Brissot, Pierre ;
Cabantchik, Ioav ;
Muckenthaler, Martina U. ;
Porto, Graca .
BLOOD, 2022, 139 (20) :3018-3029
[4]   Hereditary hemochromatosis: An update vision of the laboratory diagnosis [J].
Molina, Claudia Abadia ;
Ros, Nuria Goni ;
Tarancon, Ricardo Gonzalez ;
Varas, Luis Rello ;
Flores, Valle Recasens ;
Alvarez, Silvia Izquierdo .
JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY, 2023, 78
[5]   Can modifier gene mutations improve the predictive value of the modified Iron Avidity Index in Type 1 Hereditary Haemochromatosis? [J].
Zanella, Isabella ;
Di Lorenzo, Diego ;
Biasiotto, Giorgio .
LIVER INTERNATIONAL, 2016, 36 (11) :1713-1713
[6]   Hereditary hemochromatosis: The same old song [J].
Zanella, Isabella ;
Rossini, Angelo ;
Di Lorenzo, Diego ;
Biasiotto, Giorgio .
BLOOD CELLS MOLECULES AND DISEASES, 2015, 55 (03) :216-217