Hereditary spherocytosis diagnostic study of choice: Difference between revisions

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# 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).
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#  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).
{{Hereditary spherocytosis}}
#  Gel electrophoresis analysis of erythrocyte membranes is the method of choice for diagnosis of atypical cases.
== Overview==
The [[diagnosis]] of [[hereditary spherocytosis]] can be based on [[physical examination]], [[Complete blood count|complete blood count (CBC)]], [[Reticulocyte|reticulocyte count]], [[medical history]] and specific [[Test|tests]] including eosin-5-maleimide binding (EMA) [[test]] and acidified glycerol lysis time (AGLT) [[test]]. The [[diagnosis]] can be made at any [[Ageing|age]]. EMA binding [[test]] has high [[Sensitivity (tests)|sensitivity]] and [[Specificity (tests)|specificity]] for the [[hereditary spherocytosis]]. Other [[Test|tests]] include; osmotic fragility (OF) [[test]], pink [[test]] and ektacytometry. [[Gel electrophoresis]] analysis of [[Red blood cell|erythrocyte]] [[Membrane|membranes]] is the method of choice for [[diagnosis]] of atypical [[Disease|cases]].
 
== Diagnostic Criteria ==
* The [[diagnosis]] of [[hereditary spherocytosis]] can be based on the [[physical examination]], [[Complete blood count|complete red cell count]], [[Reticulocyte|reticulocyte count]], [[medical history]] and specific [[Test|tests]], preferentially, the EMA (eosin-5-maleimide binding) [[test]] and AGLT (acidified glycerol lysis time).
* The [[diagnosis]] can be made at any [[Ageing|age]], including the [[Neonatal|neonatal period]] from day of [[birth]].
* The [[Diagnosis|diagnostic]] guidelines of [[hereditary spherocytosis]] from the British Committee for Standards in [[hematology]] do not recommend any additional [[Test|tests]] for [[Patient|patients]] with classical [[clinical]] features and [[Laboratory|laboratory data]].
* The eosin-5-maleimide (EMA) binding [[test]] has high [[Sensitivity (tests)|sensitivity]] (92–93%) and [[Specificity (tests)|specificity]] (99%) for [[hereditary spherocytosis]], although a positive [[test]] can also be obtained in [[Patient|patients]] affected by related [[Disease|conditions]], such as [[Congenital dyserythropoietic anemia|congenital dyserythropoietic anemia type II (CDA II)]]
* Other [[Test|tests]], such as the osmotic fragility (OF) [[test]], acidified glycerol lysis test (AGLT) and the pink [[test]], exhibit lower [[Sensitivity (tests)|sensitivity]] compared to the EMA [[test]] (68%, 61% and 91%, respectively).
* Ektacytometry is a highly [[Sensitivity (tests)|sensitive]] [[test]] of [[Cell membrane|membrane]] deformability.
 
{| class="wikitable"
|+
Simple [[Diagnosis|Diagnostic Criteria]] to evoke the [[Diagnosis]] of [[Hereditary spherocytosis|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}}
| [[Hemoglobin|dec Hb]], inc [[Mean corpuscular hemoglobin concentration|MCHC]], inc %hyperdense [[Cell (biology)|cells]], inc [[reticulocytes]]
|-
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Blood smear}}
| [[Spherocyte|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|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}}
|-
| [[Osmosis|Osmotic resistance]]
| [[hemolysis]] [[test]]/routime [[Physical examination|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 [[Red blood cell|RBCs]] single [[Medical laboratory|laboratory]] in France [[test]] execution time:24 hours
| reference exam
|-
| [[Flow cytometry]]
| labeling of [[Red blood cell|RBCs]] with eosin 5 maleimide/not available on routine basis [[test]] run time >48 h
| Being evaluated
|}
 
* Newly [[Diagnosis|diagnosed]] [[Patient|patients]] with a [[family history]] of [[hereditary spherocytosis]], typical [[clinical]] features and [[Medical laboratory|laboratory]] investigations ([[Spherocyte|spherocytes]], raised [[Mean corpuscular hemoglobin concentration|mean corpuscular hemoglobin concentration (MCHC)]], increase in [[reticulocytes]]) do not require any additional [[Test|tests]].  
*  If the [[diagnosis]] is equivocal, a [[Screening (medicine)|screening test]] with high [[Predictive validity|predictive value]] for [[hereditary spherocytosis]] is helpful. The recommended [[Screening test|screening tests]] are the cryohaemolysis [[test]] and EMA binding.
*  [[Gel electrophoresis]] analysis of [[Red blood cell|erythrocyte]] [[Cell membranes|membranes]] is the method of choice for [[diagnosis]] of atypical [[Disease|cases]].
 
==References==
<references />

Latest revision as of 07:20, 7 May 2020

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Overview

The diagnosis of hereditary spherocytosis can be based on physical examination, complete blood count (CBC), reticulocyte count, medical history and specific tests including eosin-5-maleimide binding (EMA) test and acidified glycerol lysis time (AGLT) test. The diagnosis can be made at any age. EMA binding test has high sensitivity and specificity for the hereditary spherocytosis. Other tests include; osmotic fragility (OF) test, pink test and ektacytometry. Gel electrophoresis analysis of erythrocyte membranes is the method of choice for diagnosis of atypical cases.

Diagnostic Criteria

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

References

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