title: Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis.
abstract: Familial and acquired erythrocytosis and thrombocytosis are characterized by myeloid lineage hyperproliferation, which is either single or multi-lineage in origin. The single lineage disorders exhibit Mendelian inheritance with polyclonal hematopoiesis and often arise from a single genetic defect. In contrast, the multi-lineage disorders exhibit complex patterns of inheritance with multi-genetic origins and clonal hematopoiesis. They have the potential to acquire JAK2 somatic mutations, but this is not the primary event. Identification of the disease-causing genes will enable better classification of familial and acquired erythrocytosis and thrombocytosis. Furthermore, it will provide an insight into the mechanisms regulating myeloid cell proliferation.
authors.affiliation: Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland, UK. melanie.percy@belfasttrust.hscni.net
authors.forename: Melanie J
authors.initials: MJ
authors.lastname: Percy
authors.forename: Elisa
authors.initials: E
authors.lastname: Rumi
mesh_terms: D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases; D011087:Polycythemia Vera / Q000235:genetics*; D011393:Procollagen-Proline Dioxygenase / Q000235:genetics; D013922:Thrombocytosis / Q000235:genetics*; D013926:Thrombopoietin / Q000235:genetics; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics; D000099162:Endothelial PAS Domain-Containing Protein 1
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases; D011393:Procollagen-Proline Dioxygenase; D013926:Thrombopoietin; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D000099162:Endothelial PAS Domain-Containing Protein 1; C490190:EGLN1 protein, human; C497446:VHL protein, human