# The Onerous task of managing paroxysmal nocturnal hemoglobinuria in a Low resource setting: a case report. A hematologist's experience

## TL;DR

This case report discusses the challenges of diagnosing and managing paroxysmal nocturnal hemoglobinuria in a low-resource setting.

## Contribution

The paper highlights the importance of including PNH in differential diagnoses for hemolytic anemia and unusual thrombosis.

## Key findings

- PNH was diagnosed in a 34-year-old male with hemolytic anemia and dural venous sinus thrombosis.
- The case emphasizes the need for flow cytometry in diagnosing PNH for proper patient management.
- Anticoagulation and supplements are used while awaiting complement inhibitors for treatment.

## Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a form of red cell membrane defect characterized by increased sensitivity to complement-mediated cell lysis, resulting in intravascular hemolytic anemia, passage of hemoglobin-containing urine, a high risk of venous thrombosis and progression to pancytopenia.

The diagnosis of PNH is based on the flow cytometric (FCM) detection of peripheral blood cell clones. Such clones lack expression of the surface molecules linked to the glycosylphosphatidylinositol (GPI) anchors. The underlying defect is a somatic mutation of the short arm of the phosphatidylinositol glycan class A gene (PIG-A).

We report a case of a 34-year-old male, with recurrent hemolytic anemia and dural venous sinus thrombosis found to have PNH by flow cytometry. He is currently on anticoagulation, iron and folate supplements, intermittent steroids for hemolytic episodes as we await complement inhibitors.

As part of the diagnostic workup for patients presenting with recurrent hemolytic anemia and thrombosis in unusual sites, clinicians should include PNH on the list of differential diagnoses. Effort should be taken to characterize the red urine reported on the urine dipstick as blood/hemoglobin by microscopy to differentiate hematuria and hemoglobinuria and order for flow cytometry as this has implications on patient management.