Additional erythrocytic and reticulocytic parameters helpful for diagnosis of hereditary spherocytosis: results of a multicentre study

François Mullier, Elodie Lainey, Odile Fenneteau, Lydie Da Costa, Françoise Schillinger, Nicolas Bailly, Yvan Cornet, Christian Chatelain, Jean-Michel Dogne, Bernard Chatelain

Research output: Contribution to journalArticle

Abstract

Hereditary spherocytosis (HS) is characterised by weakened vertical linkages between the membrane skeleton and the red blood cell's lipid bilayer, leading to the release of microparticles. All the reference tests suffer from specific limitations. The aim of this study was to develop easy to use diagnostic tool for screening of hereditary spherocytosis based on routinely acquired haematological parameters like percentage of microcytes, percentage of hypochromic cells, reticulocyte counts, and percentage of immature reticulocytes. The levels of haemoglobin, mean cell volume, mean corpuscular haemoglobin concentration, reticulocytes (Ret), immature reticulocytes fraction (IRF), hypochromic erythrocytes (Hypo-He) and microcytic erythrocytes (MicroR) were determined on EDTA samples on Sysmex instruments from a cohort of 45 confirmed SH. The HS group was then compared with haemolytical disorders, microcytic anaemia, healthy individuals and routine samples (n = 1,488). HS is characterised by a high Ret count without an equally elevated IRF. All 45 HS have Ret >80,000/μl and Ret(10(9)/L)/IRF (%) greater than 7.7 (rule 1). Trait and mild HS had a Ret/IRF ratio greater than 19. Moderate and severe HS had increased MicroR and MicroR/Hypo-He (rule 2). Combination of both rules gave predictive positive value and negative predictive value of respectively 75% and 100% (n=1,488), which is much greater than single parameters or existing rules. This simple and fast diagnostic method could be used as an excellent screening tool for HS. It is also valid for mild HS, neonates and ABO incompatibilities and overcomes the lack of sensitivity of electrophoresis in ankyrin deficiencies.
Original languageEnglish
Pages (from-to)759-68
Number of pages10
JournalAnnals of hematology
Volume90
Issue number7
DOIs
Publication statusPublished - Jul 2011

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Hereditary Spherocytosis
Reticulocytes
Multicenter Studies
Erythrocytes
Reticulocyte Count
Erythrocyte Indices
Ankyrins
Lipid Bilayers
Skeleton
Edetic Acid
Electrophoresis
Anemia
Hemoglobins
Cell Count

Keywords

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Diagnostic Tests, Routine
  • Erythrocyte Indices
  • Erythrocyte Volume
  • Erythrocytes, Abnormal
  • Female
  • Hemoglobins
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Reticulocytes
  • Spherocytosis, Hereditary
  • Young Adult

Cite this

Mullier, François ; Lainey, Elodie ; Fenneteau, Odile ; Da Costa, Lydie ; Schillinger, Françoise ; Bailly, Nicolas ; Cornet, Yvan ; Chatelain, Christian ; Dogne, Jean-Michel ; Chatelain, Bernard. / Additional erythrocytic and reticulocytic parameters helpful for diagnosis of hereditary spherocytosis : results of a multicentre study. In: Annals of hematology. 2011 ; Vol. 90, No. 7. pp. 759-68.
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abstract = "Hereditary spherocytosis (HS) is characterised by weakened vertical linkages between the membrane skeleton and the red blood cell's lipid bilayer, leading to the release of microparticles. All the reference tests suffer from specific limitations. The aim of this study was to develop easy to use diagnostic tool for screening of hereditary spherocytosis based on routinely acquired haematological parameters like percentage of microcytes, percentage of hypochromic cells, reticulocyte counts, and percentage of immature reticulocytes. The levels of haemoglobin, mean cell volume, mean corpuscular haemoglobin concentration, reticulocytes (Ret), immature reticulocytes fraction (IRF), hypochromic erythrocytes (Hypo-He) and microcytic erythrocytes (MicroR) were determined on EDTA samples on Sysmex instruments from a cohort of 45 confirmed SH. The HS group was then compared with haemolytical disorders, microcytic anaemia, healthy individuals and routine samples (n = 1,488). HS is characterised by a high Ret count without an equally elevated IRF. All 45 HS have Ret >80,000/μl and Ret(10(9)/L)/IRF ({\%}) greater than 7.7 (rule 1). Trait and mild HS had a Ret/IRF ratio greater than 19. Moderate and severe HS had increased MicroR and MicroR/Hypo-He (rule 2). Combination of both rules gave predictive positive value and negative predictive value of respectively 75{\%} and 100{\%} (n=1,488), which is much greater than single parameters or existing rules. This simple and fast diagnostic method could be used as an excellent screening tool for HS. It is also valid for mild HS, neonates and ABO incompatibilities and overcomes the lack of sensitivity of electrophoresis in ankyrin deficiencies.",
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Additional erythrocytic and reticulocytic parameters helpful for diagnosis of hereditary spherocytosis : results of a multicentre study. / Mullier, François; Lainey, Elodie; Fenneteau, Odile; Da Costa, Lydie; Schillinger, Françoise; Bailly, Nicolas; Cornet, Yvan; Chatelain, Christian; Dogne, Jean-Michel; Chatelain, Bernard.

In: Annals of hematology, Vol. 90, No. 7, 07.2011, p. 759-68.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Additional erythrocytic and reticulocytic parameters helpful for diagnosis of hereditary spherocytosis

T2 - results of a multicentre study

AU - Mullier, François

AU - Lainey, Elodie

AU - Fenneteau, Odile

AU - Da Costa, Lydie

AU - Schillinger, Françoise

AU - Bailly, Nicolas

AU - Cornet, Yvan

AU - Chatelain, Christian

AU - Dogne, Jean-Michel

AU - Chatelain, Bernard

PY - 2011/7

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N2 - Hereditary spherocytosis (HS) is characterised by weakened vertical linkages between the membrane skeleton and the red blood cell's lipid bilayer, leading to the release of microparticles. All the reference tests suffer from specific limitations. The aim of this study was to develop easy to use diagnostic tool for screening of hereditary spherocytosis based on routinely acquired haematological parameters like percentage of microcytes, percentage of hypochromic cells, reticulocyte counts, and percentage of immature reticulocytes. The levels of haemoglobin, mean cell volume, mean corpuscular haemoglobin concentration, reticulocytes (Ret), immature reticulocytes fraction (IRF), hypochromic erythrocytes (Hypo-He) and microcytic erythrocytes (MicroR) were determined on EDTA samples on Sysmex instruments from a cohort of 45 confirmed SH. The HS group was then compared with haemolytical disorders, microcytic anaemia, healthy individuals and routine samples (n = 1,488). HS is characterised by a high Ret count without an equally elevated IRF. All 45 HS have Ret >80,000/μl and Ret(10(9)/L)/IRF (%) greater than 7.7 (rule 1). Trait and mild HS had a Ret/IRF ratio greater than 19. Moderate and severe HS had increased MicroR and MicroR/Hypo-He (rule 2). Combination of both rules gave predictive positive value and negative predictive value of respectively 75% and 100% (n=1,488), which is much greater than single parameters or existing rules. This simple and fast diagnostic method could be used as an excellent screening tool for HS. It is also valid for mild HS, neonates and ABO incompatibilities and overcomes the lack of sensitivity of electrophoresis in ankyrin deficiencies.

AB - Hereditary spherocytosis (HS) is characterised by weakened vertical linkages between the membrane skeleton and the red blood cell's lipid bilayer, leading to the release of microparticles. All the reference tests suffer from specific limitations. The aim of this study was to develop easy to use diagnostic tool for screening of hereditary spherocytosis based on routinely acquired haematological parameters like percentage of microcytes, percentage of hypochromic cells, reticulocyte counts, and percentage of immature reticulocytes. The levels of haemoglobin, mean cell volume, mean corpuscular haemoglobin concentration, reticulocytes (Ret), immature reticulocytes fraction (IRF), hypochromic erythrocytes (Hypo-He) and microcytic erythrocytes (MicroR) were determined on EDTA samples on Sysmex instruments from a cohort of 45 confirmed SH. The HS group was then compared with haemolytical disorders, microcytic anaemia, healthy individuals and routine samples (n = 1,488). HS is characterised by a high Ret count without an equally elevated IRF. All 45 HS have Ret >80,000/μl and Ret(10(9)/L)/IRF (%) greater than 7.7 (rule 1). Trait and mild HS had a Ret/IRF ratio greater than 19. Moderate and severe HS had increased MicroR and MicroR/Hypo-He (rule 2). Combination of both rules gave predictive positive value and negative predictive value of respectively 75% and 100% (n=1,488), which is much greater than single parameters or existing rules. This simple and fast diagnostic method could be used as an excellent screening tool for HS. It is also valid for mild HS, neonates and ABO incompatibilities and overcomes the lack of sensitivity of electrophoresis in ankyrin deficiencies.

KW - Adolescent

KW - Adult

KW - Aged

KW - Child

KW - Child, Preschool

KW - Diagnostic Tests, Routine

KW - Erythrocyte Indices

KW - Erythrocyte Volume

KW - Erythrocytes, Abnormal

KW - Female

KW - Hemoglobins

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Male

KW - Middle Aged

KW - Reticulocytes

KW - Spherocytosis, Hereditary

KW - Young Adult

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DO - 10.1007/s00277-010-1138-3

M3 - Article

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VL - 90

SP - 759

EP - 768

JO - Annals of hematology

JF - Annals of hematology

SN - 0939-5555

IS - 7

ER -