Polycythaemia Vera among Sudanese Patients with Special Emphasis on JAK2 Mutations.

Background: In recent years, a somatic point mutation in the Janus Kinase 2 (JAK2) gene (1849 G→T, V617F) has been reported to occur in over 90% of patients with polycythemia vera (PV). Another JAK2 mutation in exon 12 had been described and shown capable of activating erythropoietin signaling pathways. Objective: In this study, we aimed to determine the frequency of Jak2 mutations (JAK2V617F and JAK2 exon 12) as well as their relationships with hematological parameters in Sudanese patients with myeloproliferative disorders (MPD).

Management of painful vaso-occlusive crisis of sickle-cell anemia: consensus opinion.

Sickle-cell disease (SCD) is a wide-spread inherited hemolytic anemia that is due to a point mutation, leading to the substitution of valine for glutamic acid, causing a spectrum of clinical manifestations in addition to hemolysis and anemia. Acute painful crisis is a common sequela that can cause significant morbidity and negatively impact the patient's quality of life. Remarkable improvements in the understanding of the pathogenesis of this clinical syndrome and the role of cell adhesion, inflammation, and coagulation in acute painful crisis have led to changes in the management of pain.