Role of HFE gene mutations on developing iron overload in beta thalassaemia carriers in Egypt

Madani, Hanan; Ra, Afify; Aa, Abd El-Aal; Salama, Niveen; Ramy, Nermin

doi:10.26719/2011.17.6.546

Cited by 12 publications

(11 citation statements)

References 19 publications

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“…The role of H63D mutation polymorphism in β-thal major or carrier conditions has been studied in regions with a high incidence of H63D, such as in Southern Europe and Asia. Various studies have yielded conflicting conclusions (shown in Table 1): some studies from Italy, Portugal, India and Egypt suggested that iron overload might arise from the interacting effect of β-thal with homozygous or even heterozygous H 63 D mutations (13,(19)(20)(21)(22)(23); other reports from Italy, India, Thailand, Brazil and Spain indicated that the iron status was not related to the H63D mutation status (24)(25)(26)(27)(28)(29). The discrepancy may be due to the sample size, hereditary background variations in different racial populations, the sex ratio and the severity of thalassemia.…”

Section: Discussionmentioning

confidence: 99%

Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations

et al. 2018

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Abstract:Hereditary hemochromatosis and β-thalassemia can both result in the inappropriately low production of the hormone hepcidin, which leads to an increase in intestinal absorption and excessive iron deposition in the parenchymal cells. To the best of our knowledge, there have been no reports on the coexistence of the two disorders in China. We herein report a case in a Chinese who presented with late-onset hepatic cirrhosis with hereditary hemochromatosis and β-thalassemia. We analyzed the pedigree of the two disorders and the iron status in his family members. Our case supports that a heterozygous H63D mutation can interact with β-thalassemia, leading to late-onset hemochromatosis.

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Section: Discussionmentioning

confidence: 99%

Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations

et al. 2018

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“…6,7,8 The interaction of HFE gene and β-globin gene mutations may have synergistic effect, increasing iron absorption and storage in β-thalassemia major patients. 9 The present study is designed to determine the association of HFE gene mutation in β-thalassemia major patients.…”

Section: Hfe Gene Mutations Have Been Frequently Detected Inmentioning

confidence: 99%

Association of Hfe Gene Mutation in Thalassemia Major Patients

Tiwari¹,

Behera²,

Kujur³

et al. 2016

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BACKGROUND Thalassemia major patients are dependent on frequent blood transfusion and consequently develop iron overload. HFE gene mutations (C282Y, H63D and S65C) in hereditary haemochromatosis has been shown to be associated with iron overload. The study aims at finding the association of HFE gene mutations in β-thalassemia major patients. MATERIALS AND METHODS A descriptive observational pilot study was conducted including fifty diagnosed -thalassemia major cases. DNA analysis by PCR-RFLP method for HFE gene mutations was performed. RESULTS Only H63D mutation (out of three HFE gene mutations) was detected in 8 out of 50 cases. Observed frequency of H63D mutation was 16%. While frequency of C282Y and S65C were 0% each. CONCLUSION The frequency of HFE mutation in -thalassemia major is not very common.

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“…6,7,8 The interaction of HFE gene and β-globin gene mutations together may produce iron overload in β-thalassaemia major patients. 9 The present study aims to determine the influence of haemochromatosis mutations on iron overload in thalassaemia major patients.…”

Section: How To Cite This Articlementioning

confidence: 99%

The Effect of Haemochromatosis Mutation on Iron Overload in Thalassaemia Major Patients

Behera¹,

Tiwari²,

Singh³

et al. 2016

jebmh

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BACKGROUND Haemochromatosis is a genetic form of iron overload due to a defective HFE gene. Secondary iron overload is the main complication in transfusion-dependent thalassaemia major patients. This study aims at evaluating the degree of iron overload in β-thalassaemia major patients with and without HFE mutations (C282Y, H63D and S65C). MATERIALS AND METHODS A descriptive observational study was conducted including fifty diagnosed -thalassaemia major cases. Detailed clinical history and iron profile was estimated. DNA analysis by PCR-RFLP method for HFE gene mutations was performed. RESULTS After DNA analysis of all the thalassaemia major cases, two groups were identified, one with HFE gene mutation and other without HFE gene mutation. Iron profile of both the groups (with and without HFE gene mutation) was estimated and compared. Only H63D mutation (out of three HFE gene mutations) was detected in 16% cases (8 out of 50 cases), which comprised the group with mutation. Comparison of iron parameters between two groups (with and without HFE gene mutation) showed significant difference in percent transferrin saturation (p=0.02), while other iron parameters (serum iron and serum ferritin) did not show significant difference. CONCLUSION No significant difference between serum ferritin values (a marker of iron overload) of groups with and without mutation (mean ferritin level 4641±2166 ng/mL and 4170±2461 ng/mL, respectively) was found (p=0.61), in a patient population in whom transfusion protocol and proper chelation regimen was followed.

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Role of HFE gene mutations on developing iron overload in beta thalassaemia carriers in Egypt

Cited by 12 publications

References 19 publications

Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations

Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations

Association of Hfe Gene Mutation in Thalassemia Major Patients

The Effect of Haemochromatosis Mutation on Iron Overload in Thalassaemia Major Patients

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