Resistance to activated protein C as a risk factor of stroke in a thalassemic patient

It is well known that thalassemic patients exhibit an increased frequency of thrombotic events. Most individuals with resistance to activated protein C (APCR) are the result of a point mutation replac- ing Arg 506 with Gln in the factor V aminoacidic sequence (factor V Leiden). Recently APCR has been shown to account for up to 50% of cases of thrombophilia. In this report, we describe a 10 year old thalassemic intermedia patient heterozy- gous for Factor V R506Q who developed a stroke following transfusion. Coagulation laboratory val- ues were all within the normal range and there was no evidence of a lupus anticoagulant. Computer- ized brain tomography showed an ischemic area in the left temporo-parietal region. At follow-up, plasma from the patient demonstrated APCR and molecular diagnostic testing revealed heterozygosi- ty for factor V R506Q. We suggest that the het- erozygosity for factor V Leiden could increase the thrombotic risk in thalassemia intermedia. We believe it may be beneficial to screen all intermedia thalassemic patients for APCR especially before starting a transfusional regimen. ©1997, Ferrata Storti Foundation