University of Khartoum

Haematological, Clinical and Molecular Features of Myeloproliferative Disorders in Sudanese Patients

Haematological, Clinical and Molecular Features of Myeloproliferative Disorders in Sudanese Patients

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Title: Haematological, Clinical and Molecular Features of Myeloproliferative Disorders in Sudanese Patients
Author: Yousif, Gaise
Abstract: Introduction: The presence of JAK2 mutation is now a part of the essential diagnostic tools of Myeloproliferative disorders (MPDs); these types of haematological disorders are composed of Polycythaemia Vera (PRV), Essential Thrombocythaemia (ET) and Primary Myelofibrosis (PM). Objectives: General Objectives: To study the clinical and haematological features and to look for JAK 2 mutation in Sudanese patients with MPDs. Specific Objectives: - To describe the clinical features of MPDs in Sudanese patients. - To describe the haematological features of MPDs in Sudanese patients. - To detect the presence of the JAK 2 mutation in Sudanese patients with MPDs. - To correlate JAK2 mutation to clinical course of the disease. Method and materials: This is a cross sectional descriptive hospital based study carried out during the period from May 2010 to August 2010 at Fedail and Khartoum Radio Isotope Centre haematology clinics. The study was designed to investigate the clinical, haematological and molecular findings in Sudanese patients with MPDs. Fifty patients were divided into 3 groups, patients with PRV (39), ET (9) and PM (2). Each group then was subdivided into those with positive JAK2 mutation and those with negative JAK2 mutation using DNA amplification techniques. The study included clinical data, blood and bone marrow examinations and molecular techniques. VII Results: 39 patients (78%) had PRV, 9 (18%) had ET and 2 (4%) had PM. Among those patients with PRV, 25 patients (64.1%) presented initially with headache and dizziness, 2 (5.1%) with headache alone and 12 (30.8%) were asymptomatic. 4 patients (44.5%) with ET presented with headache and dizziness, 3 (33.3%) with thrombotic complications and 2 (22.2%) were asymptomatic. 20 patients (51.3%) with PRV presented initially with splenomegaly and in 13 patients (33.3%) there was no organomegaly. 6 patients (66.7%) with ET presented with splenomegaly, 2 (22.2%) with hepatomegaly and one patient (11.1%) had no organomegaly. In patients with PM one presented with hepatosplenomegaly and the other one with splenomegaly only. The study also showed that among those patients with PRV, 16 patients (41%) had no fibrosis, 15 (38.5%) had grade 1 fibrosis and 8 patients (20.5%) had grade 2 & 3 fibrosis, while those with ET, 4 patients (44.5%) had grade 2fibrosis, 2 (22.2%) had grade 1 fibrosis and 2 patients (22.2%) had grade 3 fibrosis and one (11.1%) had grade 4 fibrosis, while in those with PM, one (50%) patients had grade 3 fibrosis and one (50%) had grade 4 fibrosis. The study also showed that JAK2 mutation was present in 23 out of 39 patients with PRV, 4 out of 9 patients with ET and no one with PM. It also shows among those patients with PRV who were JAK2V617F positive, 13 patients (56.5%) had some grade of fibrosis, while those patients with PRV who were JAK2V617F negative, 10 patients (62.5%) had some grade of fibrosis. Among those patients with ET who were JAK2V617F positive, 4 patients (100%) had significant grade of fibrosis, while those patients with ET who were JAK2V617F negative, 3 patients (60%) had significant grade of fibrosis. Among those patients with PM who were JAK2V617F negative, 100% had significant grade VIII of fibrosis, while there was no patient with PM who was JAK2V617F positive. In patients with PRV who were JAK2V617F positive, the mean haemoglobin level was 17.04 g/dl, while those who were JAK2V617F negative the mean haemoglobin level for them was 16.74 g/dl. Patients with ET, who were JAK2V617F positive, had a mean haemoglobin level of 13.63 g/dl, while those JAK2V617F negative had a mean haemoglobin level of 12.66 g/dl. Patients with PM who were JAK2V617F negative had a mean haemoglobin level of 8.5 g/dl. There was no patient with PM who was JAK2V617F positive. Conclusion: This study showed that PRV was more prevalent than ET and PM. MPDs are more prevalent in the central part of the Sudan.The prevalence of JAK2 mutation in PRV is much less than that reported in the literature. The presence of JAK2V617F does not make any significant difference in the clinical presentation in those patients with PRV. The presence of a positive JAK2V617F mutation in patients with ET is associated with increased haemoglobin levels and is therefore increased risk of thrombosis.
URI: http://khartoumspace.uofk.edu/handle/123456789/8974
Date: 2015-04-14


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