A RARE INHERITED RED BLOOD CELL ENZYME DEFICIENCY
Pyruvate Kinase Deficiency
A rare inherited enzyme deficiency in red blood cells, causing chronic haemolytic anaemia of variable severity. Managed with supportive care, transfusions when needed and specialist co-management.
ABOUT THIS CONDITION
What is Pyruvate Kinase Deficiency
Pyruvate kinase (PK) deficiency is a rare inherited disorder in which red blood cells lack adequate amounts of pyruvate kinase, an enzyme essential for their energy production. Without enough energy, red blood cells break down prematurely, causing chronic haemolytic anaemia. The severity varies widely — some patients have mild anaemia that goes unnoticed for years, while others have severe anaemia from infancy requiring regular transfusions. Typical features include chronic tiredness, pallor, jaundice, dark urine, enlarged spleen and gallstones from increased bilirubin production. Severe cases in children may cause delayed growth and bone changes. Diagnosis involves blood tests showing haemolysis, specific enzyme assays and genetic testing. Treatment depends on severity and may include monitoring, folate supplementation, blood transfusions, removal of the spleen in selected cases, and newer disease-modifying therapies. Iron overload from repeated transfusions may require iron chelation. Dr. Patnam Pravallika Reddy provides initial evaluation and co-management with haematology at Lux Hospitals, Hyderabad.
SIGNS TO WATCH
Common Symptoms
Symptoms that need attention
WHY IT HAPPENS
Causes & Risk Factors
- Inherited gene mutations affecting pyruvate kinase enzyme
- Autosomal recessive — usually requires inheritance from both parents
- Causes premature breakdown of red blood cells
- Variable severity depending on specific mutations
- Can be diagnosed at any age depending on severity
- Family history is an important clue
- Genetic counselling important for families
CLINICAL DETAILS
KeyFacts
Complete blood count, blood film, haemolysis markers, specific enzyme assay and genetic testing
Varies from mild to transfusion-dependent
Supportive care, folate supplementation, transfusions and disease-modifying therapy in selected cases
Iron overload, gallstones and enlarged spleen
Haematology co-management essential
Available at Lux Hospitals, Hyderabad — co-managed with haematology
HOW WE TREAT IT
Treatment Approach
Specialist Care with Severity-Based Management
The most effective approach is severity-based management ranging from observation and folate supplementation in mild cases to regular transfusions, iron chelation, splenectomy in selected patients, and newer disease-modifying therapies — all under specialist haematology care.
- 1
Consultation & Assessment
Dr. Pravallika reviews symptoms and family history, examines the patient and arranges blood tests with referral for specific enzyme and genetic testing.
- 2
Treatment Planning
A personalised plan is created in coordination with haematology based on severity and clinical course.
- 3
Medical Management
Folate supplementation, transfusion support when needed, iron chelation in transfused patients and disease-modifying therapy in selected cases.
- 4
Recovery & Follow-up
Long-term follow-up with haematology including monitoring of haemoglobin, iron levels and complications such as gallstones.
AVAILABLE TREATMENTS
Treatment Options
Folate Supplementation
Folate supplementation supports increased red blood cell production in patients with chronic haemolysis.
Blood Transfusions in Severe Cases (Referral for haematology)
Regular blood transfusions are needed in patients with severe anaemia, with the schedule determined by severity and growth needs.
Iron Chelation in Transfused Patients
Iron chelation therapy prevents and treats iron overload in patients receiving regular transfusions.
Splenectomy in Selected Patients (Referral for surgical evaluation)
Surgical removal of the spleen reduces red blood cell destruction and transfusion needs in selected patients.
Disease-Modifying Therapy in Selected Patients (Referral for haematology)
Newer disease-modifying therapy is now available for selected patients with PK deficiency, given under specialist care.
COMMON QUESTIONS
Frequently Asked Questions
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