scholarly journals Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major

2019 ◽  
Vol 40 (11) ◽  
pp. 1178-1178
Author(s):  
Sora Yasri ◽  
Viroj Wiwanitkit
Keyword(s):  
Iron Overload ◽  
Gene Mutations ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Hfe Gene ◽  
Beta Thalassemia Major ◽  
Hfe Gene Mutations

scholarly journals Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload

2016 ◽  
Vol 4 (2) ◽  
pp. 226-231 ◽  
Author(s):  
Azza Aboul Enein ◽  
Nermine A. El Dessouky ◽  
Khalda S. Mohamed ◽  
Shahira K. A. Botros ◽  
Mona F. Abd El Gawad ◽  
...  
Keyword(s):  
Iron Overload ◽  
Serum Ferritin ◽  
Serum Iron ◽  
Gene Mutations ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Hfe Gene ◽  
Carrier Status ◽  
Beta Thalassemia Major ◽  
Hfe Gene Mutations

AIM: This study aimed to detect the most common HFE gene mutations (C282Y, H63D, and S56C) in Egyptian beta thalassemia major patients and its relation to their iron status. SUBJECTS AND METHODS: The study included 50 beta thalassemia major patients and 30 age and sex matched healthy persons as a control group. Serum ferritin, serum iron and TIBC level were measured. Detection of the three HFE gene mutations (C282Y, H63D and S65C) was done by PCR-RFLP analysis. Confirmation of positive cases for the mutations was done by sequencing.RESULTS: Neither homozygote nor carrier status for the C282Y or S65C alleles was found. The H63D heterozygous state was detected in 5/50 (10%) thalassemic patients and in 1/30 (3.3%) controls with no statistically significant difference between patients and control groups (p = 0.22). Significantly higher levels of the serum ferritin and serum iron in patients with this mutation (p = 001).CONCLUSION: Our results suggest that there is an association between H63D mutation and the severity of iron overload in thalassemic patients.

Association of HFE Gene Mutations With Serum Ferritin Level and Heart and Liver Iron Overload in Patients With Transfusion-dependent Beta-Thalassemia

2020 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Omid Reza Zekavat ◽  
Mahshid Zareian Jahromi ◽  
Sezaneh Haghpanah ◽  
Zahra Kargar Jahromi ◽  
Nader Cohan
Keyword(s):  
Iron Overload ◽  
Serum Ferritin ◽  
Serum Ferritin Level ◽  
Ferritin Level ◽  
Gene Mutations ◽  
Beta Thalassemia ◽  
Hfe Gene ◽  
Liver Iron ◽  
Liver Iron Overload ◽  
Hfe Gene Mutations

Dysmetabolic iron overload syndrome and its relationship with HFE gene mutations and with liver steatosis

2020 ◽  
Vol 52 (6) ◽  
pp. 683-685
Author(s):  
Agustín Castiella ◽  
Iratxe Urreta ◽  
Eva Zapata ◽  
MªDolores de Juan ◽  
José Mª Alústiza ◽  
...  
Keyword(s):  
Iron Overload ◽  
Liver Steatosis ◽  
Gene Mutations ◽  
Hfe Gene ◽  
Hfe Gene Mutations

Role of Three-Dimensional Speckle Tracking Echocardiography in the Quantification of Myocardial Iron Overload in Patients with Beta-Thalassemia Major

2016 ◽  
Vol 33 (9) ◽  
pp. 1361-1367 ◽  
Author(s):  
Shu-juan Li ◽  
Yu-yan Hwang ◽  
Shau-yin Ha ◽  
Godfrey C.F. Chan ◽  
Amanda S.P. Mok ◽  
...  
Keyword(s):  
Iron Overload ◽  
Speckle Tracking ◽  
Speckle Tracking Echocardiography ◽  
Three Dimensional ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Myocardial Iron ◽  
Beta Thalassemia Major

Lack of association of primary iron overload and common HFE gene mutations with liver cirrhosis in adult Indian population

2011 ◽  
Vol 30 (4) ◽  
pp. 161-165 ◽  
Author(s):  
Shalu Jain ◽  
Sarita Agarwal ◽  
Parag Tamhankar ◽  
Prashant Verma ◽  
Gourdas Choudhuri
Keyword(s):  
Liver Cirrhosis ◽  
Iron Overload ◽  
Indian Population ◽  
Gene Mutations ◽  
Hfe Gene ◽  
Hfe Gene Mutations
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