Diamond-Blackfan anemia: clinical features and treatment results in 4 cases

Area of Science:

• Hematology
• Pediatric Hematology
• Rare Diseases

Background:

• Diamond-Blackfan anemia (DBA) is a rare congenital red blood cell aplasia.
• It is characterized by hypoproliferation of erythroid precursors in the bone marrow.
• DBA presents with severe anemia, typically in infancy.

Purpose of the Study:

• To report the clinical and hematological profile of four children with Diamond-Blackfan anemia.
• To present the treatment outcomes and long-term remission in these pediatric patients.

Main Methods:

• Retrospective analysis of clinical data from four pediatric DBA patients.
• Treatment regimens included prednisolone, dexamethasone, and cyclosporine.
• Hematological parameters and treatment responses were monitored.

Main Results:

• Patients presented with severe anemia (mean Hb 2.9 g/dl) at a median age of 7.5 months.
• Initial response to prednisolone was observed in one child.
• Cyclosporine was effective in two children, and dexamethasone showed transient response in one.
• All four children achieved complete hematological remission with no relapses during a median follow-up of 59 months.

Conclusions:

• Diamond-Blackfan anemia requires individualized treatment strategies.
• Combination therapy or sequential use of immunosuppressants may be necessary for achieving sustained remission.
• Long-term follow-up confirms the efficacy of the presented treatment approaches in pediatric DBA.