Novel XK mutation in a McLeod patient diagnosed after heart transplant

- McLeod syndrome is a differential diagnosis of Huntington disease.
- We describe a new mutation of the XK gene in exon 3 leading to a premature stop codon.
- Our patient underwent heart transplantation with good outcome.
- Autologous blood of patients in case transfusions are needed because of the hematologic particularity of this disease.