Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: A change of concept required

Reish, Orit; Shefer-Kaufmann, Niva; Shimshoni, Daphne Chapman; Renbaum, Paul; Orr-Urtreger, Avi; Steiner, Hillel; Rapoport, Micha J.; Levy-Lahad, Ephrat; Altarescu, Gheona

doi:10.1097/gim.0b013e3181cb78d6

Cited by 6 publications

(4 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the present study baseline serum ferritin levels were also found to correlate with hepatic iron score (r = 0.524, which suggests that baseline ferritin levels account for roughly 27% of the variability in iron score findings). This may indicate that baseline serum ferritin levels in Israeli patients infected with HCV can be utilized as an indirect surrogate of hepatic iron concentration, notwithstanding the infrequency of clinical hemochromatosis in Israel [Reish et al, 2010].…”

Section: Discussionmentioning

confidence: 99%

The prognostic value of changes in serum ferritin levels during therapy for hepatitis C virus infection

Ackerman

Pappo

Ben‐Dov

2011

Journal of Medical Virology

View full text Add to dashboard Cite

An increase in serum ferritin levels during combined interferon-ribavirin treatment in chronic patients infected with hepatitis C virus (HCV) can occur. A study was conducted to determine whether observing the kinetics of serum ferritin levels during antiviral therapy, may assist in predicting the rate of sustained virological response. The kinetics of serum ferritin levels during antiviral therapy in treatment-naive, adherent patients with chronic HCV who had early virological response were characterized. Thirteen patients achieved sustained virological response (group 1) while eight patients did not (group 2). Pre-treatment serum ferritin levels were higher in group 2 patients. During antiviral therapy, serum ferritin levels increased in both groups. On treatment, the median increase (compared to baseline) and the calculated rate of the increase in serum ferritin levels was higher in group 1 patients (874% vs. 272%, P < 0.05, 63%/week vs. 13%/week, P = 0.024, respectively). Red blood cell lysis did not contribute to the increase in serum ferritin level. Post-treatment (1st month) serum ferritin levels in group 1 patients were lower than in group 2 patients. In addition, the degree of decline in the 1st month serum ferritin levels (from peak levels) in group 1 patients was higher (76% vs. 49%, P = 0.039). Measuring serum ferritin levels during antiviral therapy in HCV patients who had an early virological response may assist in predicting sustained virological response.

show abstract

Section: Discussionmentioning

confidence: 99%

The prognostic value of changes in serum ferritin levels during therapy for hepatitis C virus infection

Ackerman

Pappo

Ben‐Dov

2011

Journal of Medical Virology

View full text Add to dashboard Cite

show abstract

“…Additionally, several reports have raised discussions regarding a p.C282Y Irish Celtic origin with a further spread by the Viking migrations (Olsson et al 2010) or even a Viking origin (Merryweather-Clarke et al 2000). Mutation c.187C>G (p.H63D) is worldwide distributed, showing 10-20% variable allele frequency in nearly all European populations, and also appearing in North Africa, the Middle East and Asia, supporting for an older origin of this mutation (Rochette et al 1999;Ezzikouri et al 2008;Reish et al 2010;Dhillon et al 2012;Karaca et al 2013). The higher frequencies are in countries around the Mediterranean Sea (∼20%) (Sánchez et al 1998;Merryweather-Clarke et al 2000).…”

Section: Introductionmentioning

confidence: 95%

Intragenic haplotype analysis of common HFE mutations in the Portuguese population

Toste

Relvas

Pinto

et al. 2015

J Genet

View full text Add to dashboard Cite

show abstract

“…Phatak et al had shown that the prevalence of clinically proven and biopsy-proven haemochromatosis among White persons in the U.S. is 0.54%. [1] Although the frequency of carriers for various HH mutations was considered rare in the past in Israel, recent studies suggest otherwise, reporting a comparable prevalence to that of Western Europe and the U.S. [2] The reported allele frequency of C282Y and H63D mutations in Jewish population in Israel are 1.38% (95% CI 0.7, 1.9) and 11.51% (95% CI 9.8, 13.1) respectively. [2] Despite the relatively high frequency of this allele, routine screening for HH is not recommended by the current guidelines.…”

Section: Introductionmentioning

confidence: 99%

“…[1] Although the frequency of carriers for various HH mutations was considered rare in the past in Israel, recent studies suggest otherwise, reporting a comparable prevalence to that of Western Europe and the U.S. [2] The reported allele frequency of C282Y and H63D mutations in Jewish population in Israel are 1.38% (95% CI 0.7, 1.9) and 11.51% (95% CI 9.8, 13.1) respectively. [2] Despite the relatively high frequency of this allele, routine screening for HH is not recommended by the current guidelines. [3] Elevated ferritin levels (above 300 ng/ml in men and 200 ng/ml in women) are a well-known marker of haemochromatosis with high positive predictive values.…”

Section: Introductionmentioning

confidence: 99%

Underdiagnosis of hereditary haemochromatosis; A retrospective study of 362,275 patients

Krasin

Doron

Morgan

et al. 2022

Preprint

View full text Add to dashboard Cite

Background: Hereditary haemochromatosis is the most common known inherited disease in Caucasians. Pathological iron accumulation in tissues is known to cause cirrhosis, hepatocellular carcinoma and other manifestations. While early diagnosis and treatment can prevent the consequences of this disease, reports of this disorder suggest that it is underdiagnosed. Aims: The purpose of the current study was to compare the expected prevalence of hereditary haemochromatosis, based on the positive predictive values of increased transferrin saturation, to the actual number of patients that have been diagnosed.Methods: Medical record data of 362,275 adult patients were collected at one tertiary care center. An increase in transferrin saturation (above 50% for women and 60% for men) is a marker for hereditary haemochromatosis with 86% positive predictive value.Results: 1597 patients from the cohort had increased transferrin saturation. Considering the positive predictive values, the expected number of patients having hereditary haemochromatosis would be 1377 (0.38% of the cohort). 74 patients from the cohort were previously diagnosed with haemochromatosis or iron overload. The expected prevalence of hereditary haemochromatosis in the cohort is at least 18.6 times higher than that was actually diagnosed. Conclusion: Hereditary haemochromatosis is an underdiagnosed disease. We found that the expected prevalence in our cohort is comparable with reported population data. The discrepancy between the number of actually diagnosed patients and the expected number is enormous. Increasing the awareness for the diagnosis of this disorder and potentially changing the current recommendations for screening are necessary towards improving the clinical outcomes in these patients.

show abstract

Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: A change of concept required

Cited by 6 publications

References 33 publications

The prognostic value of changes in serum ferritin levels during therapy for hepatitis C virus infection

The prognostic value of changes in serum ferritin levels during therapy for hepatitis C virus infection

Intragenic haplotype analysis of common HFE mutations in the Portuguese population

Underdiagnosis of hereditary haemochromatosis; A retrospective study of 362,275 patients

Contact Info

Product

Resources

About