American Society of Hematology disorders of the hematopoietic, hemostatic, and lymphatic systems, and disorders of the interaction between blood and the blood vessel wall. An American hematologist has trained in a subspecialty program approved by the American Board of Internal Medicine or the American Board of Pediatrics, or has acquired a comparable education in the field by alternate means, and is Board Certified (or eligible) in the subspecialty of hematology. Diagnostic expertise of a hematologist A hematologist is expert in the investigation, diagnosis, and management of disorders of the aforementioned organ systems through the use of the medical history, physical findings, specialized clinical laboratory
Inherited disorders of trafficking Inherited disorders of trafficking Inherited disorders of trafficking (IDT) are a family of disorders that involve vesicular delivery of proteins. They were characterized in 1975. CEDNIK syndrome (Cerebral Dysgenesis, Neuropathy, Ichthyosis and Keratoderma Syndrome) is a rare inherited genetic skin condition (Genodermatosis) which has been associated with a loss-of-function mutation in SNAP29; SNAP29 is a member of the SNAP Receptor (SNARE) protein family. SNARE proteins assist with vesicle trafficking and are responsible for the fusion events between the membranes of vesicles and the membranes of their targets. There are two types of SNARE proteins, v-SNARE’s which are located on vesicle