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Ce, McLaren; Mj, Emond; Subramaniam, V. Nathan; Pd, Phatak; Barton, James C.; Adams, P. C.; Powell, L. W.; Gurrin, Lyle C.; Ramm, Grant A.; Anderson, Gregory J.; Gd, McLaren

doi:10.1002/hep.27851

Hepatology

2015

DOI: 10.1002/hep.27851

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McLaren Ce

Emond Mj

V. Nathan Subramaniam

et al.

Abstract: We appreciate the response of Bardou-Jacquet et al. to our report of a positive association of GNPAT p.D519G (rs11558492) with severe iron overload in males with HFE C282Y homozygosity and low alcohol consumption. 1 Their genome-wide association study of 474 unselected French male and female C282Y homozygotes found no significant association of p.D519G with iron overload. Briefly, these differences in our studies can be linked to the design and power of our study and to inclusion criteria.

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Cited by 4 publications

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Epidemiology and diagnostic testing for hemochromatosis and iron overload

Adams

2015

Int J Lab Hematology

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Summary Hemochromatosis is the most common genetic disease in northern European populations. Body iron stores progressively increase in most patients, which can lead to cirrhosis of the liver, hepatocellular carcinoma, heart failure, arthritis, and pigmentation. Simple blood tests such as the serum ferritin and transferrin saturation are useful to suggest the diagnosis which can be confirmed in most cases with a simple genetic test for the C282Y mutation of the HFE gene. However, these blood tests are often misinterpreted and there are rare patients with iron overload without HFE mutations. A diagnostic approach is presented based on a large referral practice and a population‐based study (HEIRS) which screened for iron overload in 101 168 participants.

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Epidemiology and diagnostic testing for hemochromatosis and iron overload

Adams

2015

Int J Lab Hematology

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Relationship of Baseline Hemoglobin Level with Serum Ferritin, Postphlebotomy Hemoglobin Changes, and Phlebotomy Requirements amongHFEC282Y Homozygotes

Mousavi

Mahmood

Aandahl

et al. 2015

BioMed Research International

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Objectives. We aimed to examine whether baseline hemoglobin levels in C282Y-homozygous patients are related to the degree of serum ferritin (SF) elevation and whether patients with different baseline hemoglobin have different phlebotomy requirements. Methods. A total of 196 patients (124 males and 72 females) who had undergone therapeutic phlebotomy and had SF and both pre- and posttreatment hemoglobin values were included in the study. Results. Bivariate correlation analysis suggested that baseline SF explains approximately 6 to 7% of the variation in baseline hemoglobin. The results also showed that males who had higher (≥150 g/L) baseline hemoglobin levels had a significantly greater reduction in their posttreatment hemoglobin despite requiring fewer phlebotomies to achieve iron depletion than those who had lower (<150 g/L) baseline hemoglobin, regardless of whether baseline SF was below or above 1000 µg/L. There were no significant differences between hemoglobin subgroups regarding baseline and treatment characteristics, except for transferrin saturation between male subgroups with SF above 1000 µg/L. Similar differences were observed when females with higher (≥138 g/L) baseline hemoglobin were compared with those with lower (<138 g/L) baseline hemoglobin. Conclusion. Dividing C282Y-homozygous patients into just two subgroups according to the degree of baseline SF elevation may obscure important subgroup variations.

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Optimizing the diagnosis and the treatment of iron overload diseases

Brissot

2015

Expert Review of Gastroenterology & Hepatology

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A number of human disorders are related to chronic iron overload, either of genetic or acquired origin. The multi-organ damage produced by iron excess leads, in adults and in children, to severe clinical consequences, affecting both quality of life and life expectancy. The diagnosis is increasingly based on a non-invasive strategy, resorting to clinical, biological and imaging data. The treatment rests on either venesection or chelation therapy, depending on the etiology. Major advances in the fields of molecular biology, pharmacology, and biotechnology pave the road for key improvements in the diagnostic and therapeutic management of the patients.

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Cited by 4 publications

References 6 publications

Epidemiology and diagnostic testing for hemochromatosis and iron overload

Epidemiology and diagnostic testing for hemochromatosis and iron overload

Relationship of Baseline Hemoglobin Level with Serum Ferritin, Postphlebotomy Hemoglobin Changes, and Phlebotomy Requirements amongHFEC282Y Homozygotes

Optimizing the diagnosis and the treatment of iron overload diseases

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