From the Guidelines
Hemoglobinuria in male children is most commonly caused by conditions that lead to the breakdown of red blood cells, with glucose-6-phosphate dehydrogenase (G6PD) deficiency being a predominant cause due to its prevalence and X-linked recessive inheritance pattern affecting males. This condition, along with others such as paroxysmal nocturnal hemoglobinuria (PNH), hemolytic uremic syndrome (HUS), autoimmune hemolytic anemia, and certain inherited hemoglobinopathies like sickle cell disease, can lead to the release of hemoglobin into the urine [ 1 ].
Causes of Hemoglobinuria
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency: An X-linked recessive disorder that predominantly affects males, leading to red blood cell breakdown when triggered by certain medications, foods, or infections.
- Paroxysmal nocturnal hemoglobinuria (PNH): A rare acquired stem cell disorder.
- Hemolytic uremic syndrome (HUS): Often follows gastrointestinal infections.
- Autoimmune hemolytic anemia.
- Inherited hemoglobinopathies like sickle cell disease.
- Physical trauma causing muscle damage (rhabdomyolysis) or crush injuries.
- Severe burns, transfusion reactions, and malaria are additional potential causes.
Diagnostic Approach
Given the variety of causes, a comprehensive diagnostic workup is essential and should include:
- Complete blood count.
- Peripheral blood smear.
- Urinalysis.
- G6PD enzyme activity testing.
- Potentially flow cytometry for PNH, as suggested by the need for appropriate diagnostic imaging in cases of hematuria [ 1 ].
Management
Management depends on identifying the underlying cause. For G6PD deficiency, this involves avoidance of trigger medications and foods. For other conditions, management may involve specific treatments aimed at the underlying cause, such as supportive care for HUS or specific therapies for autoimmune hemolytic anemia. Prompt diagnosis is crucial as some causes can rapidly progress to severe complications, including kidney failure, if not treated quickly.
From the Research
Causes of Hemoglobinuria in Male Children
- Hemoglobinuria, a condition characterized by the presence of hemoglobin in the urine, can be caused by various factors, including hemolytic anemia 2, 3, 4, 5.
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common cause of hemolytic anemia, which can lead to hemoglobinuria in male children 2, 3, 5.
- G6PD deficiency is an X-linked genetic disorder that affects the enzyme responsible for protecting red blood cells from oxidative damage, making them more susceptible to hemolysis 2.
- Infections, certain medications, and ingestion of fava beans can trigger hemolysis in individuals with G6PD deficiency, leading to hemoglobinuria 2, 3.
- Other types of hemolytic anemia, such as sickle cell anemia, can also contribute to hemoglobinuria in male children, although the presence of G6PD deficiency may not significantly influence the severity of hemolysis in these cases 4.
- Liver disease can also be associated with hemolytic anemia, including G6PD deficiency, and may contribute to the development of hemoglobinuria 6.