Abstract
Immune thrombocytopenia (ITP) is an acquired autoimmune disorder characterised by isolated thrombocytopenia. A New Zealand family was identified to have a hereditary form of ITP with a pattern consistent with autosomal dominant inheritance with incomplete penetrance. Previous research has identified a variant MYB as likely pathogenic. In this project, a methodology for platelet surface marker analysis by flow cytometry was developed and used to explore the relationship between the variant MYB and ITP in this family. It was hypothesised that the MYB variant causes alteration to the platelets in this family predisposing them to ITP. This study investigated whether the variant MYB is associated with retention of fetal-platelets which may be involved in the predisposition of ITP. However, there was no significant difference in platelet fetal-characteristics as measured by CD235 binding, a candidate marker for fetal platelets, in this family when compared to a healthy control population and sporadic ITP patients. It was also hypothesised that there was altered levels of platelet desialylation in this family as this is commonly associated with a subset of ITP. However, no significant difference in platelet desialylation was identified in this family, as measured by RCA-binding, when compared to healthy controls or to sporadic ITP patients.