Hereditary spherocytosis diagnostic study of choice: Difference between revisions

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=== Diagnostic Criteria ===
* The diagnosis of hereditary spherocytosis can be based on the physical examination, complete red cell count, recticulocyte count, medical history and specific tests, preferentially, the EMA (eosin-5-maleimide binding) test and AGLT (acidified glycerol lysis time).<ref name="GuittonGarçon2008">{{cite journal|last1=Guitton|first1=C.|last2=Garçon|first2=L.|last3=Cynober|first3=T.|last4=Gauthier|first4=F.|last5=Tchernia|first5=G.|last6=Delaunay|first6=J.|last7=Leblanc|first7=T.|last8=Thuret|first8=I.|last9=Bader-Meunier|first9=B.|title=Sphérocytose héréditaire : recommandations pour le diagnostic et la prise en charge chez l’enfant|journal=Archives de Pédiatrie|volume=15|issue=9|year=2008|pages=1464–1473|issn=0929693X|doi=10.1016/j.arcped.2008.04.023}}</ref><ref>{{Cite journal
| author = [[Sayeeda Huq]], [[Mark A. C. Pietroni]], [[Hafizur Rahman]] & [[Mohammad Tariqul Alam]]
| title = Hereditary spherocytosis
| journal = [[Journal of health, population, and nutrition]]
| volume = 28
| issue = 1
| pages = 107–109
| year = 2010
| month = February
| pmid = 20214092
}}</ref>
* The diagnosis can be made at any age, including the neonatal period from day of birth.<ref>{{Cite journal
| author = [[Yuki Tateno]], [[Ryoji Suzuki]] & [[Yukihiro Kitamura]]
| title = Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report
| journal = [[Journal of medical case reports]]
| volume = 10
| issue = 1
| pages = 337
| year = 2016
| month = December
| doi = 10.1186/s13256-016-1144-8
| pmid = 27906107
}}</ref>
* The diagnostic guidelines of hereditary spherocytosis from the British Committee for Standards in hematology do not recommend any additional tests for patients with classical clinical features and laboratory data.
* The eosin-5-maleimide (EMA) binding test has high sensitivity (92–93%) and specificity (99%) for hereditary spherocytosis, although a positive test can also be obtained in patients affected by related conditions, such as congenital dyserythropoietic anemia type II (CDA II)
* Other tests, such as the osmotic fragility (OF) test, acidified glycerol lysis test (AGLT) and the pink test, exhibit lower sensitivity compared to the EMA test (68%, 61% and 91%, respectively).<ref>{{Cite journal
| author = [[Immacolata Andolfo]], [[Roberta Russo]], [[Antonella Gambale]] & [[Achille Iolascon]]
| title = New insights on hereditary erythrocyte membrane defects
| journal = [[Haematologica]]
| volume = 101
| issue = 11
| pages = 1284–1294
| year = 2016
| month = November
| doi = 10.3324/haematol.2016.142463
| pmid = 27756835
}}</ref>
* Ektacytometry is a highly sensitive test of membrane deformability.
{| class="wikitable"
|+
Simple Diagnostic Criteria to evoke the Diagnosis of Hereditary Spherocytosis
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Clinical Parameters}}
| pallor, splenomegaly, inconstant jaundice
|-
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Biological paraneters & erythrocyte indices}}
| dec Hb, inc MCHC, inc %hyperdense cells, inc reticulocytes
|-
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Blood smear}}
| Spherocytes (may be absent)
|-
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Signs of hemolysis}}
| inc free bilirubin, dec haptoglobin, inc reticulocytes
|-
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Erythrocyte coombs test}}
| negative
|}
{| class="wikitable"
|+
Specific Biological Examinations for the Diagnosis of Hereditary Spherocytosis
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Tests}}
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Principle/feasibility}}
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Sensitivity/Specificity}}
|-
| Osmotic resistance
| hemolysis test/routime examination
| 66%/low
|-
| Pink test
| hemolysis test/simple test time-out test <3 hours
| 96%/79-94%
|-
| AGLT
| Hemolysis test time of test >3 hours
| 81%/95%
|-
| Ektacytometry in osmolar gradient
| study of deformity of RBCs single laboratory in France test execution time:24 hours
| reference exam
|-
| Flow cytometry
| labeling of RBCs with eosin 5 maleimide/not available on routine basis test run time >48 h
| Being evaluated
|}
# Newly diagnosed patients with a family history of HS, typical clinical features and laboratory investigations (spherocytes, raised mean corpuscular haemoglobin concentration [MCHC], increase in reticulocytes) do not require any additional tests (grade 1 recommendation, grade A evidence).  
# Newly diagnosed patients with a family history of HS, typical clinical features and laboratory investigations (spherocytes, raised mean corpuscular haemoglobin concentration [MCHC], increase in reticulocytes) do not require any additional tests (grade 1 recommendation, grade A evidence).  
#  If the diagnosis is equivocal, a screening test with high predictive value for HS is helpful. The recommended screening tests are the cryohaemolysis test and EMA binding (grade 1 recommendation, grade A evidence). (Confirmation).
#  If the diagnosis is equivocal, a screening test with high predictive value for HS is helpful. The recommended screening tests are the cryohaemolysis test and EMA binding (grade 1 recommendation, grade A evidence). (Confirmation).
#  Gel electrophoresis analysis of erythrocyte membranes is the method of choice for diagnosis of atypical cases.{{cite web |url=https://doi.org/10.1111/j.1365-2141.2011.08921.x+ |title=Guidelines for the diagnosis and management of hereditary spherocytosis – 2011 update - Bolton‐Maggs - 2012 - British Journal of Haematology - Wiley Online Library |format= |work= |accessdate=}}
#  Gel electrophoresis analysis of erythrocyte membranes is the method of choice for diagnosis of atypical cases.{{cite web |url=https://doi.org/10.1111/j.1365-2141.2011.08921.x+ |title=Guidelines for the diagnosis and management of hereditary spherocytosis – 2011 update - Bolton‐Maggs - 2012 - British Journal of Haematology - Wiley Online Library |format= |work= |accessdate=}}

Revision as of 15:21, 28 November 2018

Diagnostic Criteria

  • The diagnosis of hereditary spherocytosis can be based on the physical examination, complete red cell count, recticulocyte count, medical history and specific tests, preferentially, the EMA (eosin-5-maleimide binding) test and AGLT (acidified glycerol lysis time).[1][2]
  • The diagnosis can be made at any age, including the neonatal period from day of birth.[3]
  • The diagnostic guidelines of hereditary spherocytosis from the British Committee for Standards in hematology do not recommend any additional tests for patients with classical clinical features and laboratory data.
  • The eosin-5-maleimide (EMA) binding test has high sensitivity (92–93%) and specificity (99%) for hereditary spherocytosis, although a positive test can also be obtained in patients affected by related conditions, such as congenital dyserythropoietic anemia type II (CDA II)
  • Other tests, such as the osmotic fragility (OF) test, acidified glycerol lysis test (AGLT) and the pink test, exhibit lower sensitivity compared to the EMA test (68%, 61% and 91%, respectively).[4]
  • Ektacytometry is a highly sensitive test of membrane deformability.


Simple Diagnostic Criteria to evoke the Diagnosis of Hereditary Spherocytosis
Clinical Parameters pallor, splenomegaly, inconstant jaundice
Biological paraneters & erythrocyte indices dec Hb, inc MCHC, inc %hyperdense cells, inc reticulocytes
Blood smear Spherocytes (may be absent)
Signs of hemolysis inc free bilirubin, dec haptoglobin, inc reticulocytes
Erythrocyte coombs test negative
Specific Biological Examinations for the Diagnosis of Hereditary Spherocytosis
Tests Principle/feasibility Sensitivity/Specificity
Osmotic resistance hemolysis test/routime examination 66%/low
Pink test hemolysis test/simple test time-out test <3 hours 96%/79-94%
AGLT Hemolysis test time of test >3 hours 81%/95%
Ektacytometry in osmolar gradient study of deformity of RBCs single laboratory in France test execution time:24 hours reference exam
Flow cytometry labeling of RBCs with eosin 5 maleimide/not available on routine basis test run time >48 h Being evaluated


  1. Newly diagnosed patients with a family history of HS, typical clinical features and laboratory investigations (spherocytes, raised mean corpuscular haemoglobin concentration [MCHC], increase in reticulocytes) do not require any additional tests (grade 1 recommendation, grade A evidence).
  2.  If the diagnosis is equivocal, a screening test with high predictive value for HS is helpful. The recommended screening tests are the cryohaemolysis test and EMA binding (grade 1 recommendation, grade A evidence). (Confirmation).
  3.  Gel electrophoresis analysis of erythrocyte membranes is the method of choice for diagnosis of atypical cases."Guidelines for the diagnosis and management of hereditary spherocytosis – 2011 update - Bolton‐Maggs - 2012 - British Journal of Haematology - Wiley Online Library".
  1. ↑ Guitton, C.; Garçon, L.; Cynober, T.; Gauthier, F.; Tchernia, G.; Delaunay, J.; Leblanc, T.; Thuret, I.; Bader-Meunier, B. (2008). "Sphérocytose héréditaire : recommandations pour le diagnostic et la prise en charge chez l'enfant". Archives de Pédiatrie. 15 (9): 1464–1473. doi:10.1016/j.arcped.2008.04.023. ISSN 0929-693X.
  2. ↑ Sayeeda Huq, Mark A. C. Pietroni, Hafizur Rahman & Mohammad Tariqul Alam (2010). "Hereditary spherocytosis". Journal of health, population, and nutrition. 28 (1): 107–109. PMID 20214092. Unknown parameter |month= ignored (help)
  3. ↑ Yuki Tateno, Ryoji Suzuki & Yukihiro Kitamura (2016). "Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report". Journal of medical case reports. 10 (1): 337. doi:10.1186/s13256-016-1144-8. PMID 27906107. Unknown parameter |month= ignored (help)
  4. ↑ Immacolata Andolfo, Roberta Russo, Antonella Gambale & Achille Iolascon (2016). "New insights on hereditary erythrocyte membrane defects". Haematologica. 101 (11): 1284–1294. doi:10.3324/haematol.2016.142463. PMID 27756835. Unknown parameter |month= ignored (help)
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