Hematopoietic stem cell transplantation of aplastic anemia by relative with mutations and normal telomere length: A case report.

BACKGROUND

Immunosuppressive therapy and matched sibling donor hematopoietic stem cell transplantation (MSD-HSCT) are the preferred treatments for aplastic anemia (AA).

CASE SUMMARY

In this report, we describe a 43-year-old male patient with severe AA who carried (also known as ), , and mutations. Screening of the family pedigree revealed the same mutation in his mother and older brother, with his older brother also carrying the variant and demonstrating normal telomere length and hematopoietic function. The patient was successfully treated with oral cyclosporine A, eltrombopag, and acetylcysteine, achieving remission 4 years after receiving MSD-HSCT from his older brother.

CONCLUSION

This case provides a valuable clinical reference for individuals with suspected pathogenic gene mutations, normal telomere length, and hematopoietic function, highlighting them as potential donors for patients with AA.