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

Niwansa Adris, Simon Hazedine, Peter Bentley, Debbie Trinder, Anita C. G. Chua, Lawrie W. Powell, Louise E. Ramm, Grant A. Ramm, John K. Olyny

Research output: Contribution to journalArticle

Abstract

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 nonexpressing 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 cut-off values for MCV > 91 fL or MCH > 31 pg, respectively. Between 34 and 62% of all HH subjects would be detected, and <4% of all non-HH subjects would undergo unnecessary testing, if those with MCV or MCH values > 94 fL or 32.2 pg, respectively, were evaluated.

Original languageEnglish
Pages (from-to)18-24
Number of pages7
JournalBlood Cells, Molecules, and Diseases
Volume74
DOIs
Publication statusPublished - Feb 2019

Cite this

Adris, Niwansa ; Hazedine, Simon ; Bentley, Peter ; Trinder, Debbie ; Chua, Anita C. G. ; Powell, Lawrie W. ; Ramm, Louise E. ; Ramm, Grant A. ; Olyny, John K. / Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests. In: Blood Cells, Molecules, and Diseases. 2019 ; Vol. 74. pp. 18-24.
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abstract = "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 nonexpressing 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 cut-off values for MCV > 91 fL or MCH > 31 pg, respectively. Between 34 and 62{\%} of all HH subjects would be detected, and <4{\%} of all non-HH subjects would undergo unnecessary testing, if those with MCV or MCH values > 94 fL or 32.2 pg, respectively, were evaluated.",
keywords = "HFE Haemochromatosis, Screening, Diagnosis, Mean cell volume, Mean cell haemoglobin, MEAN CORPUSCULAR VOLUME, HEREDITARY HEMOCHROMATOSIS, IRON-OVERLOAD, HEMOGLOBIN, EXPRESSION, POPULATION, MANAGEMENT",
author = "Niwansa Adris and Simon Hazedine and Peter Bentley and Debbie Trinder and Chua, {Anita C. G.} and Powell, {Lawrie W.} and Ramm, {Louise E.} and Ramm, {Grant A.} and Olyny, {John K.}",
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Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests. / Adris, Niwansa; Hazedine, Simon; Bentley, Peter; Trinder, Debbie; Chua, Anita C. G.; Powell, Lawrie W.; Ramm, Louise E.; Ramm, Grant A.; Olyny, John K.

In: Blood Cells, Molecules, and Diseases, Vol. 74, 02.2019, p. 18-24.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests

AU - Adris, Niwansa

AU - Hazedine, Simon

AU - Bentley, Peter

AU - Trinder, Debbie

AU - Chua, Anita C. G.

AU - Powell, Lawrie W.

AU - Ramm, Louise E.

AU - Ramm, Grant A.

AU - Olyny, John K.

PY - 2019/2

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N2 - 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 nonexpressing 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 cut-off values for MCV > 91 fL or MCH > 31 pg, respectively. Between 34 and 62% of all HH subjects would be detected, and <4% of all non-HH subjects would undergo unnecessary testing, if those with MCV or MCH values > 94 fL or 32.2 pg, respectively, were evaluated.

AB - 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 nonexpressing 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 cut-off values for MCV > 91 fL or MCH > 31 pg, respectively. Between 34 and 62% of all HH subjects would be detected, and <4% of all non-HH subjects would undergo unnecessary testing, if those with MCV or MCH values > 94 fL or 32.2 pg, respectively, were evaluated.

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KW - Screening

KW - Diagnosis

KW - Mean cell volume

KW - Mean cell haemoglobin

KW - MEAN CORPUSCULAR VOLUME

KW - HEREDITARY HEMOCHROMATOSIS

KW - IRON-OVERLOAD

KW - HEMOGLOBIN

KW - EXPRESSION

KW - POPULATION

KW - MANAGEMENT

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DO - 10.1016/j.bcmd.2018.10.003

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SP - 18

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JO - Blood Cells, Molecules, and Diseases

JF - Blood Cells, Molecules, and Diseases

SN - 1079-9796

ER -