Screening for Hemochromatosis in Routine Medical Care: An Evaluation of Mean Corpuscular Volume and Mean Corpuscular Hemoglobin

Barton, James C.; Bertoli, Luigi F.; Rothenberg, Barry E.

doi:10.1089/10906570050114786

Cited by 7 publications

(6 citation statements)

References 38 publications

(64 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our observations confirm and extend those of previous investigators [11][12] , indicating these findings are valid and relevant to HH. As we have not studied subjects with non-C282Y HH, we are unable to confirm whether similar erythrocyte manifestations may be present in these disorders.…”

Section: Discussionsupporting

confidence: 93%

“…The observations of the current study combined with the earlier study of Barton et al [11][12] suggests that MCV and MCH could add to the range of parameters that inform the clinician on a likelihood of HH. Erythrocyte parameters are commonly ordered for routine clinical assessment and when within the reference range they are often paid limited attention.…”

Section: Discussionsupporting

confidence: 64%

“…After therapeutic phlebotomy, the MCV, MCH and MCHC values of HH subjects all decreased but remained elevated compared with controls. However, in these studies up to 16% of subjects had cirrhosis, raising the possibility that clinical presentations were more advanced than is currently observed [11][12] . The aim of our study was to evaluate the sensitivity and specificity of erythrocyte parameters as screening tests for detection of HH compared with general population controls and randomly selected subjects with a range of chronic diseases including liver disease, rheumatological disease, diabetes mellitus and chronic pulmonary disease.…”

Section: Introductionmentioning

confidence: 77%

“…Previous studies have reported that HH subjects exhibited significant differences in peripheral blood erythrocyte parameters compared with controls [11][12] . The mean values of haemoglobin (Hb), haematocrit, mean cell volume (MCV), mean cell haemoglobin (MCH) and mean cell haemoglobin concentration (MCHC) were all elevated compared with controls.…”

Section: Introductionmentioning

confidence: 91%

See 3 more Smart Citations

Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests

Adris

Hazeldine

Bentley

et al. 2019

Blood Cells, Molecules, and Diseases

View full text Add to dashboard Cite

Detection of HFE Haemochromatosis (HH) is challenging in the absence of clinical features. HH subjects have elevated erythrocyte parameters compared to those without HH, but it remains unclear how this could be applied in clinical practice. Thus, we determined the sensitivity, specificity and clinical utility of erythrocyte parameters in 144 HH subjects with (n=122) or without (n=22) clinical and/or biochemical expression of iron overload, 1844 general population controls, and 700 chronic disease subjects. For both expressing and non-expressing HH subjects, the mean pre-and post-phlebotomy values of mean cell volume (MCV) and mean cell haemoglobin (MCH) were always significantly higher when compared to all other groups and demonstrated excellent diagnostic utility for detection of HH in men and women (AUROC 0.83-0.9; maximal sensitivity and specificity 82% and 78%) using cutoff values for MCV >91 fL or MCH >31 pg, respectively. Between 34 and 62% of all HH subjects would be detected, and less than 4% of all non-HH subjects would undergo unnecessary testing, if those with MCV or MCH values greater than 94 fL or 32.2 pg, respectively, were evaluated.

show abstract

Section: Discussionsupporting

confidence: 93%

Section: Discussionsupporting

confidence: 64%

Section: Introductionmentioning

confidence: 77%

Section: Introductionmentioning

confidence: 91%

See 2 more Smart Citations

Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests

Adris

Hazeldine

Bentley

et al. 2019

Blood Cells, Molecules, and Diseases

View full text Add to dashboard Cite

show abstract

“…Anemia is also common among persons with increased MCV due to other causes [3,25,29,30], but evaluation of all possible circumstances associated with macrocytosis or anemia was beyond the scope of the HEIRS Study. It has been proposed that supranormal values of MCV could be used to detect hemochromatosis in white persons of western European descent who are receiving routine medical care [31]. The present results and previous observations on clines of MCV in European whites [8] suggest that this strategy is unlikely to be useful in general population screening of whites for hemochromatosis, but does not exclude the utility of a MCV criterion as an indication for testing western or northern European whites for hemochromatosis in certain medical specialty venues.…”

Section: Discussionmentioning

confidence: 99%

Determinants and characteristics of mean corpuscular volume and hemoglobin concentration in white HFE C282Y homozygotes in the hemochromatosis and iron overload screening study

McLaren

Barton²,

et al. 2007

American J Hematol

Self Cite

View full text Add to dashboard Cite

Elevated mean corpuscular volume (MCV) is common in persons with hemochromatosis associated with HFE C282Y homozygosity. We evaluated data from the subset of non-Hispanic white participants in the Hemochromatosis and Iron Overload Screening Study to determine if elevated MCV in C282Y homozygotes is related to this genotype or to serum iron measures. Regression analysis was used to model MCV and Hb from transferrin saturation (TfSat), serum ferritin (SF), mean corpuscular hemoglobin concentration, red blood cell count, age, HFE genotype, Field Center, and presence of liver-related abnormalities in C282Y homozygotes and control subjects without HFE mutations (wt/wt genotype). Mean MCV was higher in C282Y homozygotes than in HFE wt/wt controls (94.4 vs. 89.7 fL in women; 95.3 vs. 91.2 fL in men; P < 0.0001 for both). These differences were largely associated with increased mean TfSat and SF in C282Y homozygotes. Adjusted mean MCV was 92.0 fL (95% confidence interval, 91.1, 92.9) in female C282Y homozygotes and 90.9 fL (90.3, 91.5) in controls. Among women with SF in the reference range 20-200 lg/L, adjusted mean MCV was 92.9 fL, (91.7, 94.2) in C282Y homozygotes, 1.8 fL higher than in controls (P 5 0.013). The adjusted mean MCV of male C282Y homozygotes and controls was similar (P 5 0.30). Adjusted mean Hb was 0.2 g/dL higher in women with C282Y/C282Y than in controls. Greater mean MCV in C282Y homozygosity reflects increased mean TfSat and mean SF in men and women; an additional effect of genotype on MCV and Hb was detected in women. Am. J. Hematol. 82:898-905, 2007. V V C 2007 Wiley-Liss, Inc. IntroductionElevated values of mean corpuscular volume (MCV) are common in persons with hemochromatosis. In early series of hemochromatosis cases, this was attributed to hepatic cirrhosis [1], a then-current diagnostic criterion of hemochromatosis and a common sequel of severe iron overload [1,2]. In Alabama hemochromatosis probands diagnosed in medical care, mean MCV and hemoglobin concentration (Hb) were significantly greater in HFE C282Y homozygotes than in probands with other HFE genotypes or in control subjects, and 44% of all probands had prephlebotomy values of MCV greater than the upper reference limit [3]. Further, there was a significant positive association of MCV in HFE C282Y homozygotes with serum transferrin saturation (TfSat) at diagnosis and with quantities of iron removed by phlebotomy to achieve iron depletion, but not with the presence of human leukocyte antigen-A*03 [3]. In a southern California hemochromatosis screening program that evaluated persons who attended a health appraisal clinic, mean TfSat, mean serum ferritin concentration (SF), mean MCV, and mean Hb were higher than the corresponding measures in participants without common HFE mutations [4].

show abstract

Elevated mean corpuscular volume in patients with hereditary hemochromatosis

Mikhail

Phatak

2008

Comp Clin Pathol

View full text Add to dashboard Cite

Screening for Hemochromatosis in Routine Medical Care: An Evaluation of Mean Corpuscular Volume and Mean Corpuscular Hemoglobin

Cited by 7 publications

References 38 publications

Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests

Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests

Determinants and characteristics of mean corpuscular volume and hemoglobin concentration in white HFE C282Y homozygotes in the hemochromatosis and iron overload screening study

Elevated mean corpuscular volume in patients with hereditary hemochromatosis

Contact Info

Product

Resources

About