Paroxysmal nocturnal hemoglobinuria laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].

OR

Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

OR

[Test] is usually normal for patients with [disease name].

OR

Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

OR

There are no diagnostic laboratory findings associated with [disease name].

Laboratory Findings

Laboratory findings consistent with the diagnosis of [PNH] include:

• Due to hemolysis
  1. low hemoglobin
  2. low RBC count
  3. increased reticulocyte count
  4. increased LDH
  5. increased bilirubin
  6. decreased haptoglobin
  7. haemoglobinuria
  8. negative coombs/ direct anti-globulin test

• Due to haemoglobinuria
  1. urinalysis: positive dipstick for heme with negative microscopic analysis for RBC
  2. increased creatinine
  3. increased BUN
  4. iron deficiency: low iron, low ferritin, increased transferrin/ TIBC

• Due to thrombosis
  1. thrombocytopenia
  2. elevated liver function tests

• Less common findings
  1. pancytopenia

• [Flow cytometry] is the diagnostic study of choice to confirm or exclude PNH, but has to be performed only after confirming coomb's negative intravascular hemolysis. Findings include reduced levels or absent glycosylphosphatidylinositol (GPI) linked proteins on surface of blood cells. Commonly detected GPI linked proteins include CD59 and CD55.

• Other diagnostic studies not required for diagnosis include:
  1. [Bone marrow biopsy]
     • Indication: Pancytopenia
     • Findings: hypocellular or normocellular or hypercellular marrow