DNA polymorphism analysis in transfusion-associated graft-versus-host disease

Area of Science:

• Hematology
• Immunology
• Pediatric Cardiology

Background:

• Transfusion-related graft-versus-host disease (GVHD) is a rare but often fatal complication following blood product transfusions.
• Infants undergoing complex cardiac surgery, such as for transposition of the great arteries, are particularly vulnerable due to their immature immune systems and potential need for multiple transfusions.

Observation:

• A 7-week-old female infant developed severe symptoms including bloody diarrhea, fever, rash, hepatomegaly, seizures, and pancytopenia 11 days after cardiac surgery and transfusions.
• Clinical diagnosis of transfusion-related GVHD was initially supported by skin histopathology.

Findings:

• DNA polymorphism studies definitively confirmed that the infant's circulating lymphocytes and skin-infiltrating cells were of foreign origin, derived from transfused blood.
• No underlying immunodeficiency was identified as a predisposing factor.
• Standard treatments including steroids, cyclosporine, and antithymocyte globulin were ineffective, and the infant died 2 months post-surgery.

Implications:

• The findings underscore the diagnostic utility of DNA polymorphism studies in confirming transfusion-related GVHD, especially when clinical presentation mimics other conditions like drug reactions or viral infections.
• Irradiation of blood products is strongly recommended for immunocompromised infants or those requiring urgent cardiac surgery to prevent transfusion-related GVHD.