Undiagnosed Myeloproliferative Disease in Cases of Intra-Abdominal Thrombosis: The Utility of the JAK2 617F Mutation

Background & Aims: Extrahepatic portal vein thrombosis and Budd-Chiari syndrome frequently result from multiple concurrent factors such as cirrhosis, intra-abdominal sepsis, procoagulant states, and underlying myeloproliferative disorders (MPDs). The JAK2 V617F mutation is a point mutation in the Janus kinase 2 (JAK2) tyrosine kinase that is variably present in MPDs. The incidence depends on the subclassification of the MPDs and the sensitivity of the assay used. This case series aimed to illustrate the diagnostic utility of JAK2 V617F mutation in atypical cases of MPD that otherwise may not have met traditional diagnostic criteria. Methods: Granulocytic DNA was obtained and real-time polymerase chain reaction was performed using allele-specific primer and probe to provide a quantitative expression of the V617F mutation. Results: The JAK2 V617F point mutation was found in 3 patients with extrahepatic portal vein thrombosis who had multiple thrombotic events but did not fulfill the traditional diagnostic criteria for MPDs. Conclusions: A sensitive assay for the JAK2 V617F mutation has the potential to diagnose atypical MPDs in multiple undiagnosed cases of intra-abdominal thrombosis and therefore alter the management and prognosis of these patients

TaqMan quantitation of JAK2 V617F mutational load: a sensitive diagnostic tool that reflects clonal proliferation.

No abstract availabl

Prevalence of thalassaemia and haemoglobinopathies in Cambodian children

Alpha-thalassaemia and HbE have been reported to occur at high frequency (80%) in children with hypochromic microcytic anaemia from Siem Reap. In addition, HbPS has been reported from this region. The study aims to document the prevalence of anaemia, a- and b- thalassaemia and other haemoglobinopathies in children presenting sequentially to the Angkor Hospital for Children. Two hundred and sixty children between 5 months and 16 years of age were assessed with full blood counts, films, ferritin levels, HPLC, a-globin multiplex PCR and b-globin PCR. 110 anaemic subjects were identified with 61 cases of microcytic anaemia. Six subjects were iron deficient. 163 children (63%) had a haemoglobinopathy. The high prevalence of HbE (29%) in the study population is consistent with previous reports. By comparison b-thalassaemia (0.7%) occurs at lower frequency than previously reported. Alpha-thalassaemia occurs at high frequency (35.4% of subjects), but a large majority of subjects (78%) have a single gene deletion, with double deletions occurring at low frequency (5%). HbPS occurs at low frequency whilst the frequency of triplicated a genes in the survey population is consistent with that described in other populations. Although haemoglobinopathies are common in Cambodian children, the majority of abnormalities (heterozygous HbE and a3.7) are clinically insignificant. Only 2 cases with clinically severe haemoglobinopathy (HbH disease and Eb thalassaemia) were identified

Long-term safety and efficacy of ravulizumab in patients with paroxysmal nocturnal hemoglobinuria: 2-year results from two pivotal phase 3 studies

10.1111/ejh.13783European Journal of Haematology1093205-21