View source for Paroxysmal nocturnal hemoglobinuria diagnostic study of choice

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{{Paroxysmal nocturnal hemoglobinuria}}
{{CMG}}; {{AE}} {{AEL}} 
== Overview ==
Diagnosis of paroxysmal nocturnal hemoglobinuria has a minimal essential diagnostic criteria. The diagnostic test of choice is [[flow cytometry]]. The flow cytometry is used in order to reveal the [[GPI anchor|GPI]] deficient [[RBCs]]. 

== Diagnostic Study of Choice ==
=== Minimal essential diagnostic criteria  ===
* Diagnosis of paroxysmal nocturnal hemoglobinuria is based on the minimal essential diagnostic criteria. The main diagnostic test for this criteria is [[flow cytometry]].<ref name="pmid16051736">{{cite journal| author=Parker C, Omine M, Richards S, Nishimura J, Bessler M, Ware R et al.| title=Diagnosis and management of paroxysmal nocturnal hemoglobinuria. | journal=Blood | year= 2005 | volume= 106 | issue= 12 | pages= 3699-709 | pmid=16051736 | doi=10.1182/blood-2005-04-1717 | pmc=1895106 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16051736  }}</ref> 
* The flow cytometry approach is used to reveal the deficiency of [[GPI anchor]] on the [[RBCs]]. 
* Other measures used in the diagnostic criteria include the folllowing: 
** Assessment of the [[hemolytic]] parameters 
** [[Bone marrow]] examination 
* Supporting tests are included also in order to detect the PNH category. Below tables conclude both supporting tests and categories of PNH.<ref name="pmid21707954">{{cite journal| author=Pu JJ, Brodsky RA| title=Paroxysmal nocturnal hemoglobinuria from bench to bedside. | journal=Clin Transl Sci | year= 2011 | volume= 4 | issue= 3 | pages= 219-24 | pmid=21707954 | doi=10.1111/j.1752-8062.2011.00262.x | pmc=3128433 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21707954  }}</ref> 
{| class="wikitable"
|+
!Category of PNH
!Characteristics 
|-
|1- Classic PNH 
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* [[Hemolysis|Intravascular hemolysis]] evident 
* No another [[bone marrow]] disorder
* Bone marrow morphology is normal with [[erythroid]] [[hyperplasia]]
* No karyotype abnormality 
|-
|2- PNH in the setting of another specified bone marrow disorder
|
* Intravascular hemolysis evident 
* History of defined bone marrow abnormality 
* This category used to determine if the PNH is secondary to [[aplastic anemia]] or [[myelodysplastic syndrome]]
* A [[chromosomal]] abnormality may be associated with myelodysplastic syndrome
|-
|3- Subclinical PNH 
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* No evidence of hemolysis 
* Patients with subclinical PNH are detected by the [[Flow cytometry|flow cytometric analysis]]
* Mostly associated with bone marrow failure 
|}
{| class="wikitable"
|+
!Supporting approaches 
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|1- Obtaining the history of symptoms of hemoglobinuria, thromboembolic disease, dysphagia, and abdominal pain. 
2- Identifying the proportion of the PNH I, PNH II, and PNH III erythrocytes by the flow cytometric analysis 

3- Identifying the proportion of the GPI deficient blood cells 

4- Serum Iron levels 

5- Kidney function tests 

6- Serum level of erythropoietin 

7- Urine hemosiderin 

8- HLA class identification 
|}

==References==
{{Reflist|2}}
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