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D55.1 – Anaemia due to G6PD Deficiency | ICD-10
D55.1 is the ICD-10 code for anaemia due to glucose-6-phosphate dehydrogenase (G6PD) deficiency, a hereditary enzyme disorder affecting red blood cells.
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D55.1 is the ICD-10 code for anaemia due to glucose-6-phosphate dehydrogenase (G6PD) deficiency, a hereditary enzyme disorder affecting red blood cells.
What is D55.1?
The ICD-10 code D55.1 refers to anaemia due to glucose-6-phosphate dehydrogenase deficiency (abbreviated as G6PD deficiency). This is an inherited haemolytic anaemia in which red blood cells (erythrocytes) are prematurely destroyed due to an enzyme defect. G6PD is a vital enzyme that protects red blood cells from oxidative stress. When this enzyme is absent or functionally impaired, certain triggers can provoke an acute haemolytic crisis.
Causes
G6PD deficiency is inherited in an X-linked recessive pattern, meaning the affected gene is located on the X chromosome. Males are more frequently and severely affected because they carry only one X chromosome. Females can be carriers of the defective gene and may pass it on to their children.
Common triggers for a haemolytic crisis in individuals with G6PD deficiency include:
- Certain medications (e.g., primaquine, sulfonamides, nitrofurantoin)
- Infectious diseases (bacterial or viral infections)
- Fava beans (Vicia faba) – hence the term favism
- Oxidative chemicals and naphthalene
- Severe oxidative stress (e.g., serious illness)
Symptoms
Most individuals with G6PD deficiency are asymptomatic between episodes. During a haemolytic crisis, the following symptoms may occur:
- Pallor and jaundice (yellowing of the skin and eyes)
- Fatigue and weakness
- Dark urine (haemoglobinuria)
- Abdominal and back pain
- Enlarged spleen (splenomegaly)
- In severe cases: kidney failure or life-threatening anaemia
Diagnosis
G6PD deficiency is diagnosed through:
- Full blood count: Signs of haemolytic anaemia (low haemoglobin, elevated bilirubin, elevated LDH)
- G6PD enzyme activity assay: Blood test – the gold standard for diagnosis
- Blood smear: Detection of Heinz bodies within red blood cells
- Genetic testing: To identify the specific mutation and for family counselling
Important note: G6PD enzyme activity may appear falsely normal during an acute haemolytic crisis, as the oldest and most deficient cells have already been destroyed. Testing should therefore be repeated after recovery.
Treatment
There is currently no curative treatment for G6PD deficiency. Management depends on the severity:
- Avoidance of triggers: Strict avoidance of causative medications, fava beans, and oxidative agents
- Treatment of underlying infections: To resolve infection-triggered haemolytic episodes
- Blood transfusions: In cases of severe haemolytic anaemia
- Folic acid supplementation: To support red blood cell production in chronic haemolysis
- Phototherapy: For neonatal jaundice caused by G6PD deficiency
Affected Populations
G6PD deficiency is the most common enzymopathy worldwide. It is particularly prevalent among people from:
- Sub-Saharan Africa
- Mediterranean countries (Greece, Italy, Turkey)
- The Middle East and South Asia
- Southeast Asia and China
It is widely believed that G6PD deficiency confers some degree of protection against malaria, which explains its high prevalence in malaria-endemic regions.
References
- WHO (World Health Organization): Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group, Bulletin of the World Health Organization, 1989.
- Cappellini, M. D. & Fiorelli, G.: Glucose-6-phosphate dehydrogenase deficiency. The Lancet, 371(9606):64-74, 2008. DOI: 10.1016/S0140-6736(08)60073-2.
- Luzzatto, L. et al.: Glucose-6-phosphate dehydrogenase deficiency. In: Hematology: Basic Principles and Practice, 7th edition, Elsevier, 2018.
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