Stories from the battle to cure Hermansky-Pudlak Syndrome, and other observations about every day life
Thursday, March 17, 2016
New HPS gene discovered
A new gene type of HPS was reported in the January 7th edition of the journal Blood, a journal of the American Society of Hematology. HPS type 10 involves albinism, early onset seizures, neurodevelopmental delay, infection susceptibility and neutropenia. Bleeding was not studied in the patient; however, this new HPS gene does match a mouse model gene with the same platelet issues as all patients with HPS. Previously, there was not a human match for this mouse model. This type of HPS also involves the same protein complex involved with HPS type 2. HPS type 2, however, is not known to cause neurological complications.