title: Anaemia characterises patients with myelofibrosis harbouring Mpl mutation.
abstract: The clinical and haematological phenotype of patients with myelofibrosis harbouring MPL(W515L/K) mutation has not been thoroughly investigated. Of 217 myelofibrosis subjects, 18 (8.2%) had an MPL mutation, four of which (22%) co-existed with JAK2(V617F) mutation. When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, those with MPL(W515L/K), were more frequently female, were older (61 years vs. 57 years; P = 0.02), presented with more severe anaemia (haemoglobin, 101 g/l vs. 121 g/l; P = 0.002) and were more likely to require regular transfusional support (P = 0.012). These data indicate that MPL mutation in myelofibrosis characterises patients with more severe anaemic phenotype.
authors.affiliation: Department of Haematology, University of Florence, Florence, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Guglielmelli
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pancrazzi
authors.forename: Gaetano
authors.initials: G
authors.lastname: Bergamaschi
authors.forename: Vittorio
authors.initials: V
authors.lastname: Rosti
authors.forename: Laura
authors.initials: L
authors.lastname: Villani
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Antonioli
authors.forename: Alberto
authors.initials: A
authors.lastname: Bosi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Barosi
authors.forename: Alessandro M
authors.initials: AM
authors.lastname: Vannucchi
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000740:Anemia / Q000150:complications / Q000235:genetics*; D001803:Blood Transfusion; D004920:Erythropoiesis / Q000502:physiology; D005260:Female; D005838:Genotype; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D055728:Primary Myelofibrosis / Q000150:complications / Q000235:genetics* / Q000628:therapy; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D012737:Sex Factors
chemical_list: D006454:Hemoglobins; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2