JAK2 V617F mutation in myeloproliferative neoplasms

Myeloproliferative neoplasms [MPNs] are clonal hematopoietic stem cell Malignancies characterized by excessive production of blood cell :they include polycythemia vera [PV],essential thrombocythemia [ET],Myelofibrosis [MF] and chronic inyeloid leukemia [CML].A somatic mutation in the Janus Kinase gene on chromosome 9: a guanine to thymine point mutation at nucleotide 1849 in exon 14,results in substitution of valine to phenylalanine atfcodon 617 this mutation contributes to the expansion of the MPN clone by increasing tyrosine phosphorylation activity providing hematopoietic [dh with a proliferative and survival advantage. The present work aimed to study the expression of JAK2 V617 F mutation by Real time PCR in myeloproliferative neoplasms patients. This study included /5 MPNs patients ;19 cases were diagnosed as PV 10 cases were diagnosed as ET16 cases were diagnosed as MF .20 age and sex matched individuals were also included as a control group. In MPNs patients,JAK2 mutation was expressed in 62%, in P V, ET an d MF patients 79%, 60% and 44% of cases had JAK2 mutation respectively. There was highly significant relationship between JAk2 mutation expression and patients' laboratory findings as regards hemoglobin level, total leucocytic count in PV positive JAK2 mutation patients and platelets count in ET positive JAK2 mutation patients. JAK2, mutation expression was associated with increased risk of MPNs .We concluded from this study that JAK2 mutation plays a fundamental role in the palhogenesis and development of MPNs ,and its detection is very useful to confirm the diagnosis and help in treatment and follow up of MPNs patients

Early detection of factor VIII inhibitors in hemophilia a patients with different treatment modalities

Hemophilia care in underdeveloped and developing countries is extremely inadequate and in some instances, completely absent. Persons with hemophilia battle the complications of both the disease and its treatment. One of the most serious of these problems is the development of the inhibitors. The development of the inhibitors influences their quality of life. This work was designed to: 1- elucidate the inhibitors status 2-to study the relation of factor VIII inhibitors and modes of therapy and duration of treatment 3- to clarify the cause of bleeding, is it related to insufficient treatment or development of inhibitors 4- to study the effect of the severity of hemophilia in the frequency of factor VIII inhibitors and their correlation with factor VIII level. The study included 63 hemophilic patients under different treatment modalities and were classified to four groups according to the types of treatment; they were group [I] included [7] patients with no previous anti hemophilic treatment and were considered as a control group, group [II] included [12] patients who were on treatment with fresh frozen plasma, group [III] consists of [16] patients who were under treatment with cryoprecipitate and group [IV] was [28] patients who were under treatment with concentrated factor VIII.To all groups of patients complete blood count, prothrombin time and prothrombin concentration, activated partial thromboplastin time, factor IX, von willebrand factor, factor VIII levels and factor VIII inhibitor levels were performed. Development of inhibitors was obvious in severe hemophilic patients especially in those who were receiving on demand factor VIII concentrate therapy