A case of G6PD Utrecht associated with β-thalassemia responding to splenectomy

Area of Science:

• Genetics
• Hematology
• Pediatrics

Background:

• Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked genetic disorder.
• Chronic nonspherocytic hemolytic anemia (CNSHA) is a severe manifestation requiring medical investigation.
• Genetic mutations in G6PD and HBB genes can lead to complex hematological conditions.

Observation:

• An 8-year-old Chinese male presented with CNSHA and hepatosplenomegaly.
• Genetic analysis revealed co-inheritance of a novel G6PD mutation (c.1225C>T, p.Pro409Ser) and a known HBB mutation (c.316-197C>T).

Findings:

• The G6PD c.1225C>T mutation, previously reported as G6PD Utrecht, was identified as the primary cause of the patient's hemolytic anemia.
• The co-inherited HBB mutation did not contribute significantly to the clinical phenotype.
• Splenectomy resulted in the patient achieving transfusion independence, indicating successful management of the anemia.

Implications:

• This case highlights the importance of comprehensive genetic analysis in diagnosing complex hematological disorders.
• The findings expand the known spectrum of G6PD mutations and their clinical presentations.
• Identifying the causative G6PD mutation guided therapeutic decisions, leading to improved patient outcomes.