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JPMA ( Journal Of Pakistan Medical Association)

T. Farzana, T. S. Shamsi, M.Irfan, S. H. Ansari, M. I. Baig, N. Shakoor Bismillah Taqee Blood Diseases Centre, Karachi. ___________________________________________________________________________________________________________________________

Introduction:


Aplastic anaemia is a disorder characterized by peripheral blood pancytopenia associated with hypocellular bone marrow trephine biopsy in the absence of any dysmorphic precursors or marrow infiltration. In Pakistan, idiopathic aplastic anaemia is the most common type of aplastic anaemia affecting mainly male population.1 It is associated with immune mediated destruction of haematopoietic stem cells.2 Allogeneic stem cell transplantation offers a 60-80% chance of cure in young patients who have a HLA identical sibling donor.3,4 However, patients without a donor or who are older; immunosuppression remains the only option. Graft rejection, and graft versus host disease have been major complications related to allogeneic transplant in the past. Lately, improved immune suppression protocols have resulted in a decline in graft failures with better outcome.5 Autologous peripheral blood stem cell transplantation has replaced bone marrow transplantation during last 15 years.6 Published data suggests that in allogeneic PBSC, there is rapid engraftment, lesser blood component usage, early hospital discharge and lower incidence of acute GvHD.7-9 Randomised studies comparing PBSC vs. BMT in allogeneic setting clearly show faster haemopoietic and immune recovery and reduced relapse rate in PBSC groups.10,11 However, these studies did not show significant difference in acute and chronic graft versus host disease in two groups. In Pakistan, until recently immunosuppression was the only modality of treatment available for these patients. During the last 3 years peripheral blood stem cell transplantation programme was started in our centre. Here we describe our experience in 20 cases of aplastic anaemia.Read more

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JAK2V617F Mutation in Chronic Myeloid Leukemia Predicts Early Disease Progression.

Zaen-Al-Abideen Pahore, Tahir S. Shamsi, Mehwesh Taj, Tasneem Farzana, Saqib H. Ansari, Muhammad Nadeem, Masood Ahmad and Arshi Naz. _________________________________________________________________________________________________________________________ Objective: To determine the association of JAK2V617F mutation along with BCR-ABL translocation or Philadelphia chromosome in chronic myeloid leukemia with early disease progression to advanced stages (accelerated phase or blast crisis) and poor outcome. Study Design: Case series. Place and Duration of Study: National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, from February 2008 to August 2009. Methodology: All the newly diagnosed cases of BCR-ABL or Philadelphia positive CML were tested for JAK2V617F mutation by Nested PCR. Demographic data, spleen size, hemoglobin levels, white blood cell and platelet counts were recorded. Independent sample t-test was used for age, haemoglobin level and spleen size. Fisher’s exact test was applied to compare disease progression in JAK2V617F mutation positive and negative cases. Results: Out of 45 newly diagnosed cases of CML, 40 were in chronic phase, 01 in accelerated phase and 04 in blast crisis. JAK2V617F mutation was detected in 12 (26.7%) patients; 09 (22.5%) in chronic phase, none in accelerated phase and 03 (75%) in blast crisis. During a mean follow-up of 8 months, 03 patients in chronic phase transformed in blast crisis and 02 into accelerated phase. Overall 08 out 0f 11 (73%) JAK2V617F positive patients either had advanced disease or showed disease progression. Only 2 of 20 (10%) available patients, negative for the mutation, showed disease progression by transforming into blast crisis (p < 0.001). No statistically significant difference was seen in the age, spleen size, haemoglobin levels, white blood cells and platelets counts in JAK2V617F positive patients. Conclusion: JAK2V617F mutation was detected in 26.7% cases of chronic myeloid leukemia. A significant proportion of them showed early disease progression.Read more
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Molecular epidemiology of β-thalassemia in Pakistan: far reaching implications

Saqib H Ansari, Tahir S Shamsi, Mushtaq Ashraf, Muneera Bohray, Tasneem Farzana, Mohammed Tahir Khan, Kousar Perveen, Sajida Erum, Iqra Ansari, Muhammad Nadeem, Masood Ahmed, Faizan Raza. _________________________________________________________________________________________________________________________ Abstract: β-thalassaemia, an autosomal recessive hemoglobinopathy, is one of the commonest genetically transmitted disorders throughout the world. Collective measures including carrier identification, genetic counseling and prenatal diagnosis are required for preventing β-thalassemia. To achieve this objective, Identification of the spectrum of genetic mutations, especially for various ethnic backgrounds in Pakistan is necessary. Therefore, we designed a cross sectional prospective study to identify the frequency of various gene mutations in different ethnic groups of Pakistan. Over a 5-year period, DNA from 648 blood samples [including specimens of chorionic villus sampling (CVS)] were analyzed for the twelve most common β-thalassemia mutations found in the Pakistani population by a Multiplex amplification refractory mutation system (ARMS). The most common mutation identified was Intervening Sequence 1-5 (IVS 1-5 (G-C)); accounting for 40.89% mutated alleles, and was represented in all ethnic groups. 15.7 % of the β- thalassemia alleles were found to have Frameshift 8-9 (Fr 8-9) as the second most common mutation Other common genetic defects responsible for β-thalassemia: IVS 1-1 (G-T) was found in 8.17%, Codon-30 (Cd-30 (G-C)) 8.02%, Codon-5(Cd-5 (-CT)) contributed 2.16% and Deletion 619 base pair (Del 619bp) affected 11.11% were found in Pakistan. This large study adds to the pre-existing data in Pakistan. Knowledge of the predominant mutation in a given ethnic group will not only help in developing a short panel of (population-specific) primers of mutations thereby providing a cost-effective method for prenatal diagnosis and also help the clinicians to counsel regarding blood transfusion regimen/ pregnancy termination.Read more
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Sensitivity and specificity of Single-Tube Osmotic Fragility Test and its different methods as screening test for thalassemia trait: an alternative to expensive laboratory tests for resource-limited countries.

Saqib H. Ansari, Anny Hanifa, Ayesha Saleem, Salima M. Ali, Zeeshan Hussain, Mohammad Zohaib, Mohammad Akbar, Saif Rehman, Syed R. Hussain. ___________________________________________________________________________________________________________________________ Objective: To determine the sensitivity and specificity of single-tube osmotic fragility (SOFT) and its different methods as screening test for thalassemia trait.
Methods: A cross-sectional study was conducted at Omair Sana Foundation. A total of 400 participants were included in the study. Three hundred were known thalassemia carriers (parents with at least one child with thalassemia major), while 100 were healthy blood donors. SOFT was performed on all 400 participants. Serum iron, ferritin, and DNA tests were performed on 100 participants (donors). ARMS technique was used for detecting thalassemia mutations.
Results: Sensitivity and specificity of SOFT (venous method) were found to be 99.6% and 86%, respectively, while with EDTA method, sensitivity was 95% and specificity was 96%. For venous and EDTA methods, positive predictive values were 95.5% and 98.6%, respectively, while negative predictive values were 98.8% and 86.6%, respectively. Use of EDTA and storage had an effect on the results. Sensitivity of SOFT was 95% at 5 min, while it decreased to 87% with EDTA method at 240 min. Sensitivity of SOFT for iron deficiency anemia was found to be 14%.
Conclusion: SOFT can be used as screening test for thalassemia trait in a cost-effective way. Moreover, we also found that SOFT should be performed on venous blood without adding preservatives (EDTA) that can interfere with the results.Read more
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Efficacy of Hydroxyurea in Providing Transfusion Independence in b-Thalassemia

Saqib H. Ansari, MBBS, DCH, DPGN, MPhil, Tahir S. Shamsi, MBBS, FRCPath, Mushtaq Ashraf, MBBS, MD, Kousar Perveen, BSc, MBA, CRA, Tasneem Farzana, MBBS, MCPS, Munira Borhany, MBBS, FCPS, Sajida Erum, Pharm D, CCRP, and Tabassum Mehboob, PhD. ________________________________________________________________________________________________________________________________ Background: Packed red blood cell (PRC) transfusion with iron chelation is the mainstay of treatment for b-thalassemia major. This prospective interventional trial serves as a follow up to our similar earlier study that evaluated the efficacy and safety of hydroxyurea (HU) in minimizing PRC transfusions in patients with b-thalassemia major. Methods: One hundred fifty-two patients with b-thalassemia major received HU at a mean dose of 16 mg/kg/d. The results were analyzed at the end of 24 months. Transfusion requirement during the 6 months preceding the study was considered as the control.
Results: One hundred forty-six of 152 patients were evaluated after 24 months of follow up; 6 patients were either lost to follow-up or withdrew consent. Grade 1 myelosuppression was observed in 4 patients and diarrhea in 2 patients. Sixty children (41%) did not require any transfusion after using HU; 57 patients (39%) showed partial response with greater than 50% reduction in PRC transfusion; and 29 patients (20%) were nonresponders with less than 50% reduction in PRC transfusion. The mean volume of PRC transfused was reduced for all patients. Conclusions: HU was found to be safe in patients with bthalassemia major, and resulted in the reduction of transfusion requirement and in an increase in the interval between transfusions.Read more

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