The incidence and prevalence of patients with paroxysmal nocturnal haemoglobinuria and aplastic anaemia PNH syndrome: a retrospective analysis of the UK’s population-based haematological malignancy research network 2004-2018

Stephen J Richards; Daniel Painter; Anita J Dickinson; Morag Griffin; Talha Munir; Louise Arnold; Daniel Payne; Alexandra Pike; Petra Muus; Anita Hill; Darren J Newton; Claire McKinley; Rachael Jones; Richard Kelly; Alex Smith; Eve Roman; Peter Hillmen

doi:10.1111/ejh.13640

The incidence and prevalence of patients with paroxysmal nocturnal haemoglobinuria and aplastic anaemia PNH syndrome: a retrospective analysis of the UK’s population-based haematological malignancy research network 2004-2018

Stephen J Richards, Daniel Painter, Anita J Dickinson, Morag Griffin, Talha Munir, Louise Arnold, Daniel Payne, Alexandra Pike, Petra Muus, Anita Hill, Darren J Newton, Claire McKinley, Rachael Jones, Richard Kelly, Alex Smith, Eve Roman, Peter Hillmen

Research output: Contribution to journal › Article › peer-review

Abstract

OBJECTIVES: A retrospective population-based study to determine the incidence and prevalence of patients with the rare blood disease paroxysmal nocturnal haemoglobinuria (PNH).

METHODS: All patients were identified by flow cytometric detection of blood cells deficient in glycosylphosphatidylinositol (GPI) linked proteins at a single diagnostic reference laboratory that serves the Yorkshire based, Haematological Malignancy Research Network (HMRN) with a population of 3.8 million.

RESULTS: One hundred and ninety-seven patients with detectable PNH clones at a level of >0.01% in at least two lineages of cells (neutrophils, monocytes and/or red cells) were identified over a 15-year period (2004-2018). Of these, 88% had aplastic anaemia (AA), 8% classical PNH and 3% myelodysplastic syndrome. The overall incidence rate was estimated at 0.35 cases per 100 000 people per year. This equates to 220 cases newly diagnosed in the United Kingdom each year. The overall prevalence rate was 3.81 per 100 000, this equates to an estimated 2400 prevalent cases in the UK. The overall and relative 5-year survival rates were 72% and 82.7%, respectively.

CONCLUSIONS: This study showed that classical haemolytic PNH is a rare disease and represents only a small proportion overall of patients with detectable PNH cells, the majority of which have aplastic anaemia.

Original language	English
Pages (from-to)	211-218
Number of pages	8
Journal	European Journal of Haematology
Volume	107
Issue number	2
Early online date	9 Jun 2021
DOIs	https://doi.org/10.1111/ejh.13640
Publication status	Published - 7 Jul 2021

Bibliographical note

© John Wiley & Sons A/S. This is an author-produced version of the published paper. Uploaded in accordance with the publisher’s self-archiving policy. Further copying may not be permitted; contact the publisher for details

Keywords

Adolescent
Adult
Aged
Aged, 80 and over
Anemia, Aplastic/complications
Biomarkers
Child
Child, Preschool
Female
Hemoglobinuria, Paroxysmal/complications
History, 21st Century
Humans
Immunophenotyping
Incidence
Male
Middle Aged
Population Surveillance
Prevalence
Retrospective Studies
Syndrome
United Kingdom/epidemiology
Young Adult

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10.1111/ejh.13640

ejh.13640
© John Wiley & Sons A/S. This is an author-produced version of the published paper. Uploaded in accordance with the publisher’s self-archiving policy. Further copying may not be permitted; contact the publisher for details
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Cite this

Richards, S. J., Painter, D., Dickinson, A. J., Griffin, M., Munir, T., Arnold, L., Payne, D., Pike, A., Muus, P., Hill, A., Newton, D. J., McKinley, C., Jones, R., Kelly, R., Smith, A., Roman, E., & Hillmen, P. (2021). The incidence and prevalence of patients with paroxysmal nocturnal haemoglobinuria and aplastic anaemia PNH syndrome: a retrospective analysis of the UK’s population-based haematological malignancy research network 2004-2018. European Journal of Haematology, 107(2), 211-218. https://doi.org/10.1111/ejh.13640

Richards, Stephen J ; Painter, Daniel ; Dickinson, Anita J et al. / The incidence and prevalence of patients with paroxysmal nocturnal haemoglobinuria and aplastic anaemia PNH syndrome : a retrospective analysis of the UK’s population-based haematological malignancy research network 2004-2018. In: European Journal of Haematology. 2021 ; Vol. 107, No. 2. pp. 211-218.

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abstract = "OBJECTIVES: A retrospective population-based study to determine the incidence and prevalence of patients with the rare blood disease paroxysmal nocturnal haemoglobinuria (PNH).METHODS: All patients were identified by flow cytometric detection of blood cells deficient in glycosylphosphatidylinositol (GPI) linked proteins at a single diagnostic reference laboratory that serves the Yorkshire based, Haematological Malignancy Research Network (HMRN) with a population of 3.8 million.RESULTS: One hundred and ninety-seven patients with detectable PNH clones at a level of >0.01% in at least two lineages of cells (neutrophils, monocytes and/or red cells) were identified over a 15-year period (2004-2018). Of these, 88% had aplastic anaemia (AA), 8% classical PNH and 3% myelodysplastic syndrome. The overall incidence rate was estimated at 0.35 cases per 100 000 people per year. This equates to 220 cases newly diagnosed in the United Kingdom each year. The overall prevalence rate was 3.81 per 100 000, this equates to an estimated 2400 prevalent cases in the UK. The overall and relative 5-year survival rates were 72% and 82.7%, respectively.CONCLUSIONS: This study showed that classical haemolytic PNH is a rare disease and represents only a small proportion overall of patients with detectable PNH cells, the majority of which have aplastic anaemia.",

keywords = "Adolescent, Adult, Aged, Aged, 80 and over, Anemia, Aplastic/complications, Biomarkers, Child, Child, Preschool, Female, Hemoglobinuria, Paroxysmal/complications, History, 21st Century, Humans, Immunophenotyping, Incidence, Male, Middle Aged, Population Surveillance, Prevalence, Retrospective Studies, Syndrome, United Kingdom/epidemiology, Young Adult",

author = "Richards, {Stephen J} and Daniel Painter and Dickinson, {Anita J} and Morag Griffin and Talha Munir and Louise Arnold and Daniel Payne and Alexandra Pike and Petra Muus and Anita Hill and Newton, {Darren J} and Claire McKinley and Rachael Jones and Richard Kelly and Alex Smith and Eve Roman and Peter Hillmen",

note = "{\textcopyright} John Wiley & Sons A/S. This is an author-produced version of the published paper. Uploaded in accordance with the publisher{\textquoteright}s self-archiving policy. Further copying may not be permitted; contact the publisher for details",

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Richards, SJ, Painter, D, Dickinson, AJ, Griffin, M, Munir, T, Arnold, L, Payne, D, Pike, A, Muus, P, Hill, A, Newton, DJ, McKinley, C, Jones, R, Kelly, R, Smith, A, Roman, E & Hillmen, P 2021, 'The incidence and prevalence of patients with paroxysmal nocturnal haemoglobinuria and aplastic anaemia PNH syndrome: a retrospective analysis of the UK’s population-based haematological malignancy research network 2004-2018', European Journal of Haematology, vol. 107, no. 2, pp. 211-218. https://doi.org/10.1111/ejh.13640

The incidence and prevalence of patients with paroxysmal nocturnal haemoglobinuria and aplastic anaemia PNH syndrome : a retrospective analysis of the UK’s population-based haematological malignancy research network 2004-2018. / Richards, Stephen J; Painter, Daniel; Dickinson, Anita J et al.

In: European Journal of Haematology, Vol. 107, No. 2, 07.07.2021, p. 211-218.

Research output: Contribution to journal › Article › peer-review

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T2 - a retrospective analysis of the UK’s population-based haematological malignancy research network 2004-2018

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AU - Munir, Talha

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AU - Pike, Alexandra

AU - Muus, Petra

AU - Hill, Anita

AU - Newton, Darren J

AU - McKinley, Claire

AU - Jones, Rachael

AU - Kelly, Richard

AU - Smith, Alex

AU - Roman, Eve

AU - Hillmen, Peter

N1 - © John Wiley & Sons A/S. This is an author-produced version of the published paper. Uploaded in accordance with the publisher’s self-archiving policy. Further copying may not be permitted; contact the publisher for details

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N2 - OBJECTIVES: A retrospective population-based study to determine the incidence and prevalence of patients with the rare blood disease paroxysmal nocturnal haemoglobinuria (PNH).METHODS: All patients were identified by flow cytometric detection of blood cells deficient in glycosylphosphatidylinositol (GPI) linked proteins at a single diagnostic reference laboratory that serves the Yorkshire based, Haematological Malignancy Research Network (HMRN) with a population of 3.8 million.RESULTS: One hundred and ninety-seven patients with detectable PNH clones at a level of >0.01% in at least two lineages of cells (neutrophils, monocytes and/or red cells) were identified over a 15-year period (2004-2018). Of these, 88% had aplastic anaemia (AA), 8% classical PNH and 3% myelodysplastic syndrome. The overall incidence rate was estimated at 0.35 cases per 100 000 people per year. This equates to 220 cases newly diagnosed in the United Kingdom each year. The overall prevalence rate was 3.81 per 100 000, this equates to an estimated 2400 prevalent cases in the UK. The overall and relative 5-year survival rates were 72% and 82.7%, respectively.CONCLUSIONS: This study showed that classical haemolytic PNH is a rare disease and represents only a small proportion overall of patients with detectable PNH cells, the majority of which have aplastic anaemia.

AB - OBJECTIVES: A retrospective population-based study to determine the incidence and prevalence of patients with the rare blood disease paroxysmal nocturnal haemoglobinuria (PNH).METHODS: All patients were identified by flow cytometric detection of blood cells deficient in glycosylphosphatidylinositol (GPI) linked proteins at a single diagnostic reference laboratory that serves the Yorkshire based, Haematological Malignancy Research Network (HMRN) with a population of 3.8 million.RESULTS: One hundred and ninety-seven patients with detectable PNH clones at a level of >0.01% in at least two lineages of cells (neutrophils, monocytes and/or red cells) were identified over a 15-year period (2004-2018). Of these, 88% had aplastic anaemia (AA), 8% classical PNH and 3% myelodysplastic syndrome. The overall incidence rate was estimated at 0.35 cases per 100 000 people per year. This equates to 220 cases newly diagnosed in the United Kingdom each year. The overall prevalence rate was 3.81 per 100 000, this equates to an estimated 2400 prevalent cases in the UK. The overall and relative 5-year survival rates were 72% and 82.7%, respectively.CONCLUSIONS: This study showed that classical haemolytic PNH is a rare disease and represents only a small proportion overall of patients with detectable PNH cells, the majority of which have aplastic anaemia.

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KW - Adult

KW - Aged

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KW - Anemia, Aplastic/complications

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KW - Child, Preschool

KW - Female

KW - Hemoglobinuria, Paroxysmal/complications

KW - History, 21st Century

KW - Humans

KW - Immunophenotyping

KW - Incidence

KW - Male

KW - Middle Aged

KW - Population Surveillance

KW - Prevalence

KW - Retrospective Studies

KW - Syndrome

KW - United Kingdom/epidemiology

KW - Young Adult

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DO - 10.1111/ejh.13640

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JO - European Journal of Haematology

JF - European Journal of Haematology

SN - 0902-4441

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Richards SJ, Painter D, Dickinson AJ, Griffin M, Munir T, Arnold L et al. The incidence and prevalence of patients with paroxysmal nocturnal haemoglobinuria and aplastic anaemia PNH syndrome: a retrospective analysis of the UK’s population-based haematological malignancy research network 2004-2018. European Journal of Haematology. 2021 Jul 7;107(2):211-218. Epub 2021 Jun 9. doi: 10.1111/ejh.13640