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[Allogeneic hematopoietic stem cell transplantation for RASGRP2 gene-related inherited platelet function disorders: a
1Guiyang Maternal and Child Health Care Hospital, Guiyang Children's Hospital, Guiyang 550001, China.
Insights
Allogeneic hematopoietic stem cell transplantation successfully treated a child with RASGRP2-associated inherited platelet function disorders (IPFD). The patient achieved full donor chimerism and resolution of life-threatening epistaxis post-transplant.
Area of Science:
- Hematology
- Genetics
- Pediatric Medicine
Background:
- Inherited platelet function disorders (IPFD) can cause severe bleeding.
- RASGRP2 mutations are a rare cause of IPFD.
- Conventional treatments may be ineffective for severe IPFD.
Purpose of the Study:
- To report a successful allogeneic hematopoietic stem cell transplantation (HSCT) in a pediatric patient with RASGRP2-associated IPFD.
- To review the literature on HSCT for RASGRP2-related IPFD.
Main Methods:
- Retrospective analysis of a single pediatric case.
- HLA-matched sibling allogeneic HSCT with myeloablative conditioning.
- Monitoring of engraftment, chimerism, and clinical outcomes.
Main Results:
- Successful platelet, neutrophil, and erythrocyte engraftment achieved.
- Complete donor chimerism (99.7%) confirmed by Day 22.
- Resolution of recurrent epistaxis and no bleeding post-engraftment.
- No graft-versus-host disease or severe infections at 4-month follow-up.
Conclusions:
- Allogeneic HSCT is a viable curative option for severe RASGRP2-associated IPFD.
- Early diagnosis and timely HSCT can prevent life-threatening bleeding complications.
- This case highlights the efficacy of HSCT in managing rare genetic platelet disorders.
Abstract:
This study retrospectively analyzed a 4-year-and-8-month-old boy with RASGRP2-associated inherited platelet function disorders (IPFD) who was successfully treated with allogeneic hematopoietic stem cell transplantation, along with a review of the relevant literature. The patient presented with a 3-year history of recurrent epistaxis, and following comprehensive evaluation, he was diagnosed as having RASGRP2-related IPFD. Because of life-threatening bleeding risk and poor response to conventional treatment, an HLA-matched sibling without the pathogenic variant was selected as the donor, and a myeloablative conditioning regimen was administered. Platelet engraftment was achieved on Day 13 posttransplantation, and neutrophil and erythrocyte engraftment occurred on Day 18. Donor chimerism reached 99.7% on Day 22. Epistaxis during conditioning was controlled with nasal packing and platelet transfusion, and no bleeding recurred after platelet engraftment. At the 4-month follow-up, no graft-versus-host disease or severe infection was detected, and complete donor chimerism was confirmed.
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