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Pyruvate kinase deficiency in an alpha-thalassemia family: first case report in Thailand
V S Tanphaichitr1, V Suvatte, C Mahasandana
1Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Insights
Pyruvate kinase deficiency, a rare cause of hemolytic anemia, was diagnosed in a Thai girl initially misdiagnosed with Hb H disease. This highlights the importance of re-evaluation for accurate diagnosis and management of chronic anemia.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Thalassemia hemoglobinopathy is the leading cause of chronic hemolytic anemia in Thailand.
- Pyruvate kinase (PK) deficiency is a rare inherited metabolic disorder affecting red blood cells.
Observation:
- A 10-year-old girl presented with severe anemia requiring regular blood transfusions since infancy.
- Initial diagnosis was Hb H disease, common in her family, but atypical features prompted re-evaluation.
- The patient lacked red cell inclusion bodies, a common sign in Hb H disease.
Findings:
- Re-evaluation after a 3-month transfusion cessation led to the diagnosis of red cell pyruvate kinase deficiency.
- Family studies confirmed the genetic basis of PK deficiency.
- Hb H disease was excluded in the patient.
Implications:
- Accurate diagnosis of pyruvate kinase deficiency is crucial for appropriate management of hemolytic anemia.
- This case underscores the need for careful differential diagnosis in pediatric anemia, even with a family history of other conditions.
- Effective management includes regular transfusions and iron chelation therapy.
Abstract:
In Thailand, the most common cause of chronic hemolytic anemia is thalassemia hemoglobinopathy. We report here a 10-year-old girl with pyruvate kinase (PK) deficiency who was initially diagnosed to have Hb H disease, like her sister. The patient had a history of neonatal jaundice which required blood exchange transfusion twice and phototherapy. She became anemic and regular blood transfusion was required since the age of 2 1/2 months. She was very anemic compared to her sister and was transfusion dependent. Besides, she never had red cell inclusion bodies, thus re-evaluation was performed. The diagnosis of red cell pyruvate kinase deficiency and the exclusion of Hb H disease was achieved after cessation of blood transfusion for 3 months. The family study also confirmed the diagnosis. The patient is now on high transfusion and iron chelation. She is doing well with mild splenomegaly.