hfe gene mutation
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scholarly journals HEREDITARY HEMOCHROMATOSIS AND JAK2-POSITIVE POLYCYTHEMIA VERA

2021 ◽  
Author(s):  
Ahmed Radwan ◽  
Ibraheem Othman
Keyword(s):  
Genetic Testing ◽  
Polycythemia Vera ◽  
Gene Mutation ◽  
Hereditary Hemochromatosis ◽  
Hfe Gene ◽  
C282y Mutation ◽  
Iron Saturation ◽  
Mutation Screen ◽  
Hfe Gene Mutation

A 59-year-old male was diagnosed with JAK2-positive Polycythemia Vera. Subsequently, further lab testing revealed elevated ferritin and iron saturation. Genetic testing for HFE gene mutation screen revealed that the patient was positive for heterozygous C282Y mutation. The patient was ultimately diagnosed with both Polycythemia Vera and Hereditary Hemochromatosis.

HFE gene mutation is a risk factor for tissue iron accumulation in hemodialysis patients

2017 ◽  
Vol 21 (3) ◽  
pp. 359-366 ◽  
Author(s):  
Ercan Turkmen ◽  
Tolga Yildirim ◽  
Rahmi Yilmaz ◽  
Tuncay Hazirolan ◽  
Gonca Eldem ◽  
...  
Keyword(s):  
Risk Factor ◽  
Gene Mutation ◽  
Hemodialysis Patients ◽  
Iron Accumulation ◽  
Hfe Gene ◽  
Tissue Iron ◽  
Hfe Gene Mutation

scholarly journals ASSOCIATION OF HFE GENE MUTATION IN THALASSEMIA MAJOR PATIENTS

2016 ◽  
Vol 3 (89) ◽  
pp. 4853-4855 ◽  
Author(s):  
Amit Kumar Tiwari ◽  
Tapas Ranjan Behera ◽  
Maikal Kujur ◽  
Amar Bhadur Singh
Keyword(s):  
Gene Mutation ◽  
Thalassemia Major ◽  
Hfe Gene ◽  
Hfe Gene Mutation

Presentation of A Case with C282Y Mutation Detected in HFE Gene and Research of HFE Gene Mutation Frequency in Patient's Family

2014 ◽  
Vol 39 (2) ◽  
pp. 150-154
Author(s):  
Belkis Aydinol ◽  
Sedat Yilmaz ◽  
Sedat Genc ◽  
Muhammet Mustafa Aydinol
Keyword(s):  
Gene Mutation ◽  
Mutation Frequency ◽  
Hfe Gene ◽  
C282y Mutation ◽  
Hfe Gene Mutation

scholarly journals An association study of HFE gene mutation with idiopathic male infertility in the Chinese Han population

2012 ◽  
Vol 14 (4) ◽  
pp. 599-603 ◽  
Author(s):  
Xiao-Ying Yu ◽  
Bin-Bin Wang ◽  
Zhong-Cheng Xin ◽  
Tao Liu ◽  
Ke Ma ◽  
...  
Keyword(s):  
Male Infertility ◽  
Association Study ◽  
Gene Mutation ◽  
Chinese Han Population ◽  
Hfe Gene ◽  
Chinese Han ◽  
Han Population ◽  
Idiopathic Male Infertility ◽  
Hfe Gene Mutation

scholarly journals Hyperferritinaemia without positive HFE gene mutation

2011 ◽  
Vol 34 (6) ◽  
pp. 166-168
Author(s):  
Chenault Doug Lee ◽  
Darrell HG Crawford ◽  
Katherine A Stuart ◽  
Andrew T St John
Keyword(s):  
Gene Mutation ◽  
Hfe Gene ◽  
Hfe Gene Mutation

Non-compaction and polyneuropathy in a patient homozygous for the H63D HFE gene mutation

Open Medicine ◽  
2011 ◽  
Vol 6 (3) ◽  
pp. 309-311
Author(s):  
Claudia Stöllberger ◽  
Josef Finsterer
Keyword(s):  
Gene Mutation ◽  
Genetic Disorders ◽  
Left Ventricular ◽  
Hfe Gene ◽  
Cardiac Abnormality ◽  
Hfe Gene Mutation ◽  
Caucasian Female

AbstractLeft ventricular hypertrabeculation/non-compaction (LVHT) is a cardiac abnormality that is increasingly reported with an association to several genetic disorders. We report an association of LVHT with genetically confirmed hemochromatosis and polyneuropathy in a 54-year old Caucasian female.

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