Haematological features in Barth syndrome

Area of Science:

• Hematology
• Cell Biology
• Rare Diseases

Background:

• Barth syndrome is a rare genetic disorder with diverse clinical manifestations.
• Hematological abnormalities, particularly neutropenia, are a significant feature requiring further understanding.

Purpose of the Study:

• To review recent advances in Barth syndrome, focusing on pathogenesis, clinical presentation, diagnosis, and treatment.
• To elucidate the mechanisms underlying neutropenia in Barth syndrome.

Main Methods:

• Review of current literature on Barth syndrome.
• Analysis of neutrophil and lymphoblast characteristics in affected individuals.
• Examination of potential therapeutic interventions for neutropenia.

Main Results:

• Neutrophils in Barth syndrome exhibit phosphatidylserine exposure without apoptosis, suggesting increased clearance by macrophages due to reactive oxygen species.
• Lymphoblasts display mitochondrial abnormalities, including size variability and fragmented cristae.
• Neutropenia showed a positive response to granulocyte colony-stimulating factor in some patients.

Conclusions:

• Reactive oxygen species-induced phosphatidylserine exposure is the likely cause of neutropenia in Barth syndrome.
• Granulocyte colony-stimulating factor represents a potential therapeutic option for managing neutropenia in Barth syndrome.