Res Pract Thromb Haemost. 2025 Mar 30;9(3):102842. doi: 10.1016/j.rpth.2025.102842. eCollection 2025 Mar.
ABSTRACT
BACKGROUND: Severe combined immunodeficiency (SCID) and severe hemophilia A are 2 rare and potentially life-threatening congenital diseases. The coincidence of these diseases has not been reported so far.
KEY CLINICAL QUESTION: We present the first case of a newborn with both diseases. SCID can be treated with hematopoietic stem cell transplantation (HSCT). However, how to successfully manage a newborn with severe hemophilia A during intensive HSCT treatment is the key clinical question of this case report.
CLINICAL APPROACH: Prophylactic factor (F)VIII substitution during HSCT was performed with an extended half-life FVIII product (efmoroctocog alfa). The platelet count was a major factor influencing the dosage of FVIII. No bleeding complications or FVIII inhibitors occurred during this individualized management.
CONCLUSION: This is the first case report of a newborn suffering from both SCID and severe hemophilia A. HSCT is feasible in this situation without bleeding complications if an individual substitution regimen with FVIII is applied.
PMID:40337622 | PMC:PMC12056251 | DOI:10.1016/j.rpth.2025.102842
