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1.
Blood Adv ; 8(6): 1392-1404, 2024 Mar 26.
Article En | MEDLINE | ID: mdl-38286442

ABSTRACT: Congenital fibrinogen deficiency (CFD) is a rare bleeding disorder caused by mutations in FGA, FGB, and FGG. We sought to comprehensively characterize patients with CFD using PRO-RBDD (Prospective Rare Bleeding Disorders Database). Clinical phenotypes, laboratory, and genetic features were investigated using retrospective data from the PRO-RBDD. Patients were classified from asymptomatic to grade 3 based on their bleeding severity. In addition, FGA, FGB, and FGG were sequenced to find causative variants. A total of 166 CFD cases from 16 countries were included, of whom 123 (30 afibrinogenemia, 33 hypofibrinogenemia, 55 dysfibrinogenemia, and 5 hypodysfibrinogenemia) were well characterized. Considering the previously established factor activity and antigen level thresholds, bleeding severity was correctly identified in 58% of the cases. The rates of thrombotic events among afibrinogenemic and hypofibrinogenemic patients were relatively similar (11% and 10%, respectively) and surprisingly higher than in dysfibrinogenemic cases. The rate of spontaneous abortions among 68 pregnancies was 31%, including 86% in dysfibrinogenemic women and 14% with hypofibrinogenemia. Eighty-six patients received treatment (69 on-demand and/or 17 on prophylaxis), with fibrinogen concentrates being the most frequently used product. Genetic analysis was available for 91 cases and 41 distinct variants were identified. Hotspot variants (FGG, p.Arg301Cys/His and FGA, p.Arg35Cys/His) were present in 51% of dysfibrinogenemia. Obstetric complications were commonly observed in dysfibrinogenemia. This large multicenter study provided a comprehensive insight into the clinical, laboratory, and genetic history of patients with CFDs. We conclude that bleeding severity grades were in agreement with the established factor activity threshold in nearly half of the cases with quantitative defects.


Afibrinogenemia , Hemostatics , Humans , Female , Fibrinogen/genetics , Afibrinogenemia/epidemiology , Afibrinogenemia/genetics , Afibrinogenemia/complications , Prospective Studies , Retrospective Studies , Hemorrhage/genetics
2.
J Ayub Med Coll Abbottabad ; 34(Suppl 1)(4): S923-S927, 2022.
Article En | MEDLINE | ID: mdl-36550645

Background: This study was carried out to determine the frequency of CD34 positivity in acute lymphoblastic leukaemia (B-ALL) in our population and to report its association with the clinicopathological profile at the time of diagnosis. Methods: The cross-sectional study was conducted at National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan, from March 2020 till December 2020.Newly diagnosed patients were selected, from both genders and all age groups. Relevant history and findings of physical examination were recorded. Immunohistochemistry was done on trephine biopsy and molecular studies were carried on bone marrow aspirates or peripheral blood samples. Results: Out of 105 patients enrolled, 67 (63.8%) were males, with a male to female ratio (M: F) 1.8:1. Of the total patients, 62 (59.04%) were above 15 years of age. CD34 was expressed in 73 (69.5%) cases. Lymphadenopathy, splenomegaly, and hepatomegaly were separately noted in context to CD 34 expression in 22 (66.6%), 24 (64.8%), and 14 (58.3%) patients, respectively. CNS disease was seen in a total of 3(2.75%) subjects, in which 2 (66.6%) of the patients had CD34 expression. Total 81 patients in our study fall into the high-risk group out of which CD 34 expression was seen in 58(71.6%) subjects. Cytogenetic analysis, BCR-ABL p190, and MLL gene rearrangement were investigated in all participants. Cytogenetic analysis revealed an abnormality in 20 (19%) cases out of which 13 (17.8%) cases were from CD34 positive group. Conclusion: Our study reported CD34 expression in more than two-thirds of cases. High-risk disease was significantly associated with CD34 expression.


Precursor Cell Lymphoblastic Leukemia-Lymphoma , Humans , Male , Female , Pakistan/epidemiology , Cross-Sectional Studies , Antigens, CD34/analysis , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma/pathology
3.
Cureus ; 14(9): e29079, 2022 Sep.
Article En | MEDLINE | ID: mdl-36249635

INTRODUCTION:  Aplastic anemia (AA) is characterized by pancytopenia and hypocellular marrow in the absence of an abnormal infiltrate or increase in reticulin fibrosis. The diagnosis of AA is challenging at times due to decreased cellularity and overlapping morphological features with other bone marrow failure syndromes. Hepatitis-associated aplastic anemia (HAAA) is a rare variant in which patients typically present with jaundice and hepatitis followed by pancytopenia almost within 6 months. Post-hepatitis AA accounts for approximately 1-5% of cases, and invariably such cases are negative for the known hepatitis virus as well. There is limited literature available to understand the correlation of AA with hepatitis with none reported at the national level in our region. As AA is relatively more prevalent in Southeast Asia as compared to the western world and hepatitis is a prevalent disease in our population, the main purpose of this study was to assess the hepatic profile and determine the association of hepatitis in AA at the time of diagnosis. MATERIALS AND METHODS:  A cross-sectional study was carried out at the National Institute of Blood Disease and Bone Marrow Transplantation, Karachi, from November 2019 to December 2020 after the informed consent from patients. The study included all treatment-naïve patients of acquired AA with no prior history of taking steroids, immunosuppressive treatment, or chemoradiation therapy. Liver function tests, complete blood count, prothrombin time (PT), and activated partial thromboplastin time were performed, along with viral profiles (HAV, Hep B, Hep C, and HIV). SPSS version 23 (IBM Corp., Armonk, NY) was used for statistical analysis. Mean and standard deviations were computed for quantitative variables while percentages and frequencies were reported for qualitative variables. T-test was used to observe the main difference between groups and a p-value <0.05 was considered to be significant. RESULTS:  Out of a total of 351 patients, 29 (8.2%) patients with AA tested positive for viral hepatitis. Hepatitis A was the most prevalent hepatitis (4.0%), followed by hepatitis C (3.7%). The comparison of platelet counts in patients with and without hepatitis was reported to be of statistical significance (p-value < 0.05). A significant statistical difference (p-value < 0.0001) was found in platelet count and PT in patients of AA with and without hepatitis. CONCLUSION:  Overall, this study revealed that <10% of patients of AA had a positive screening for hepatitis A, B, and C and low platelet count, and PT was statistically significant when compared between the patients with and without hepatitis. Hepatitis being prevalent in our part of the world might have an important causal association with AA. Patients with AA should be screened for liver functions and viral hepatitis at the time of diagnosis. In addition to hepatitis A, B, and C and HIV, other causes of hepatitis should also be screened such as parvovirus B19, human herpes virus 16, and adenovirus which are not included in routine diagnostic viral testing panel.

4.
Cureus ; 14(6): e25775, 2022 Jun.
Article En | MEDLINE | ID: mdl-35812560

AIMS AND OBJECTIVES: Our goal is to disseminate data on the distribution pattern of Rh antigen, its phenotypes, and the likely genotypes of these genetic variants in the Pakistani population. METHODOLOGY: This study was a cross-sectional research project. Patients' demographic statistics, such as age and gender, were gathered from their medical information. Blood group, disease, RhD, and other antigen frequency, phenotype, and probable genotype were considered variables. All blood samples were phenotyped for Rhesus antigens (D, C, c, E, and e), and the test was carried out using the tubing technique. RESULTS: According to gender distribution, most of the patients were males, with 131 frequencies (57.7%), while females had 42.35%. The most common phenotype was DCCee, with its probable genotype DCe/DCe (R1 R1) (34%), followed by DCcee, with probable genotype DCe/ce (R1 r) (29.1%); the least common phenotype was ddCcee, with its probable genotype Ce/ce (r ' r) (0.4%). CONCLUSION: It is concluded that the DCCee phenotype was the most common with its probable genotype DCe/DCe, while the least common phenotype was ddCcee with its probable genotype Ce/ce.

5.
Cureus ; 14(6): e26026, 2022 Jun.
Article En | MEDLINE | ID: mdl-35865439

Introduction The objective of the study was to assess the impact of coagulopathy in risk-stratified acute promyelocytic leukemia (APML) patients irrespective of bleeding manifestation. Patients and methods This was a cross-sectional study design conducted at the National Institute of Blood Diseases and Bone Marrow Transplantation (NIBD & BMT) from November 2019 to December 2021. A total of 62 patients between three years to 74 years of age of either gender and treatment-naive cases of APML were included in the study. Morphological diagnosis was made on bone marrow samples, and confirmation was done by karyotyping/fluorescence in situ hybridization (FISH) and/or polymerase chain reaction (PCR). Complete blood count (CBC), prothrombin time (PT), activated partial thromboplastin time (APTT), D-dimer, and fibrinogen levels were done for bleeding risk assessment. Cases other than APML and cases on treatment were excluded from the study. Results A total of 85 APML patients were registered at our institute. Among them, 62 (73%) were included in the analysis as per the inclusion criteria of the study. The median age was 32 (3-74) years, with a male predominance of 34 (55%). According to the Sanz score, 18 (29%) patients were noted to have low risk; however, 22 (35.4%) patients were found to have an intermediate-risk disease and 22 (35.4%) patients had high-risk disease. There was positive bleeding history among 44 (71%) patients, followed by fever in 28 (45%) patients. Raised PT, APTT, and D-dimer were found in 46 (74%), 38 (61%), and 52(83.8%) patients, respectively. Low fibrinogen levels were observed among 16 (26%) patients. The association of risk stratification and bleeding history with CBC and coagulation parameters was observed. Platelet count and total leucocyte count were noted to be significantly associated with risk stratification. However, there was no association observed between the rest of the parameters with risk stratification and bleeding. Conclusion The results of our study suggest that regardless of bleeding symptoms, coagulation parameters must be investigated at the time of diagnosis in patients with suspected APML, and in addition to all-trans-retinoic acid (ATRA), transfusion of fresh frozen plasma should be done. It has clinical value, and adding it to the algorithm of treatment would be beneficial to the patients in the developing world, where resources are already meager.

6.
Cancer Rep (Hoboken) ; 5(10): e1580, 2022 10.
Article En | MEDLINE | ID: mdl-34708590

BACKGROUND: Myelodysplastic syndromes (MDS) are heterogeneous group of haematopoietic stem cell disorders and have variable reduction in the production of red cells, platelets and mature granulocytes. AIM: We conducted a case-control study evaluating the environmental and occupational determinants as risk factors of MDS. METHODS: A case-control study was conducted including 150 de novo MDS cases and 450 age and gender-matched controls. Disease characteristics, sociodemographics and exposure to environmental and occupational determinants were collected through a questionnaire. Chi-square test was applied to observe association, and binary logistic regression was applied to predict the odds of having MDS. RESULTS: A total of 600 participants were analysed. Those who were exposed to arsenic (OR 31.81, CI: 19.0-53.0, P-value: .000), benzene (OR 1.564, CI: 1.07-2.27, P-value: .01) using natural source of water (OR 3.563, CI: 2.29-5.53, P-value: .000) and smokers (OR 3.1, P-value: .000) were more likely to have MDS. Unmarried were less likely to acquire MDS than married (OR 0.239, CI: 0.15-0.36, P-value: .000), Sindhi speaking were 1.419 times more likely to have MDS than participants speaking other languages. Uneducated participants were more likely to have MDS than educated and powder milk users were more likely to have MDS than dairy milk users. CONCLUSION: Our results revealed that arsenic, use of natural source of water and benzene exposure might lead to higher risk of acquiring MDS. This study would be helpful to understand the aetiology of disease in Pakistani population.


Arsenic , Myelodysplastic Syndromes , Arsenic/adverse effects , Benzene/toxicity , Case-Control Studies , Humans , Myelodysplastic Syndromes/diagnosis , Myelodysplastic Syndromes/epidemiology , Myelodysplastic Syndromes/etiology , Pakistan/epidemiology , Powders , Water
7.
BMC Infect Dis ; 21(1): 1014, 2021 Sep 27.
Article En | MEDLINE | ID: mdl-34579646

BACKGROUND: Convalescent plasma(CP) was utilized as potential therapy during COVID-19 pandemic in Pakistan. The study aimed at appraisal of CP transfusion safety and usefulness in COVID pneumonia. METHODS: Single arm, MEURI study design of non-randomized open label trial was conducted in five centers. Patients werecategorized as moderately severe, severe, and critical. The primary endpoint was a) improvement in clinical status and change in category of disease severity; secondary endpoint was b) CP ability to halt disease progression to invasive ventilation. CP transfused to hospitalized patients. Statistical tests including median (interquartile ranges), Mann-Whitney U test, Fisher's exact test using SPSS ver. 23, ANOVA and Chi-square test were applied for the analysis of results parameters before and after CP treatment. SOFA score was applied for multiorgan failure in severe and critical cases. RESULTS: A total of 50 adult patients; median age 58.5 years (range: 29-92 years) received CP with infusion titers; median 1:320 U/mL (Interquartile range 1:80-1:320) between April 4 to May 5, 2020. The median time from onset of symptoms to enrollment in trial was 3 to 7 days with shortness of breath and lung infiltration as severity criterion. In 35 (70%) recipients, oxygen saturation improved from 80 to 95% within 72h, with resolution of lung infiltrates. Primary endpoint was achieved in 44 (88%) recipients whereas secondary endpoint was achieved in 42 (84%). No patient experienced severe adverse events. A high SOFA score (> 7) correlated with deaths in severe and critical patients. Eight (16%) patients expired due to comorbidities; cardiac arrest in 2 (4%), multiorgan failure secondary to cytokine storm in 5 (10%) and ventilator associated complications in 1 (2%). CONCLUSION: CP transfusion can be used as a safe and useful treatment in moderately severe and severe patients. TRIAL REGISTRATION: The trial registration number is NCT04352751  ( https://www.irct.ir/search/result?query=IRCT20200414047072N1 ). Trial Registration date is 28th April 2020.


COVID-19 , Pandemics , Adult , Aged , Aged, 80 and over , Blood Component Transfusion , COVID-19/therapy , Humans , Immunization, Passive , Middle Aged , Pakistan , Plasma , SARS-CoV-2 , Treatment Outcome , COVID-19 Serotherapy
8.
J Pak Med Assoc ; 71(2(B)): 633-635, 2021 Feb.
Article En | MEDLINE | ID: mdl-33941949

OBJECTIVE: To evaluate the presence and characteristics of additional karyotype abnormalities in chronic myeloid leukaemia cases. METHODS: The cross-sectional study was conducted at the Department of Cytogenetics and Molecular Pathology, National Institute of Blood Diseases and Bone Marrow Transplant, Karachi, from May 2010 to September 2016 and comprised diagnosed chronic myeloid leukaemia patients regardless of age and gender. Baseline cytogenetic evaluation was done on overnight, 24-hrs un-stimulated and 72-hrs stimulated bone marrow cultures, and karyotypes were defined according to the International System for Human Cytogenetic Nomenclature2013. Data was analysed using SPSS 23. RESULTS: There were 222 cases with a median age of 38 years (range: 12-84 years). The male-to-female ratio was 1.8:1. Chronic myeloid leukaemia was detected in 18(8.1%) patients having additional cytogenetic abnormalities. Among the patients found positive, cytogenetic type was minor in 10(55.55%), major 3(16.66%), complex 3(16.66%), and variant 2(11.11%). CONCLUSION: Additional cytogenetic abnormalities were found in 8% of the sample.


Leukemia, Myelogenous, Chronic, BCR-ABL Positive , Adolescent , Adult , Aged , Aged, 80 and over , Child , Chromosome Aberrations , Cross-Sectional Studies , Cytogenetic Analysis , Female , Humans , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/epidemiology , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics , Male , Middle Aged , Pakistan/epidemiology , Young Adult
9.
J Pak Med Assoc ; 71(1(A)): 133-135, 2021 Jan.
Article En | MEDLINE | ID: mdl-33484539

The study was designed to investigate the quantity and reasons of wastage of blood products. This was an observational study conducted from February 2018 to February 2019 at the National Institute of Blood Disease and Bone Marrow Transplantation (NIBD and BMT), PECHS campus. The study was approved by the institutional review board. Wastage and reasons of wastage for all the blood products were evaluated. Frequencies were calculated by using SPSS version 23.0. A total of 2,880 bags of blood products were available, including 960 each of platelets, packed red cells and fresh frozen plasma. The overall wastage rate was 3.5%. Packed red cells and platelets were fully consumed, yet shortage of supply was observed. However, highest wastage was observed in fresh frozen plasma i.e. 102 bags. Expiry of unused products 60 (59%) followed by broken bags 30 (29%) were two common modes of wastage. Wastage of blood products is a genuine issue in a hospital setup, strategies and plan of action should be discussed and implemented to ensure that they are available when and where they are needed most.


Blood Banks , Hospitals , Blood Platelets , Pakistan
10.
Pak J Med Sci ; 36(6): 1246-1251, 2020.
Article En | MEDLINE | ID: mdl-32968388

OBJECTIVE: We performed a prospective analysis at our center to find out the most common organisms causing bacterial infections to establish pattern of antibiotic resistance, in order to combat febrile neutropenia effectively in the terms of outcome as well as cost. METHODS: A hospital based observational study was conducted at National Institute of Blood Diseases and bone marrow transplantation from January 2017 to December 2017. Patients presented with absolute neutrophil count (ANC) of less than 500/ml were enrolled. Data were analyzed by SPSS version 21.0. P value of <0.05 was considered statistically significant. RESULTS: In this study, a total of 242 patients from various hematological disorders were enrolled and 403 bacterial isolates were obtained. The most frequent isolated gram-negative organisms were Escherichia coli, followed by Klebsiella pneumoniae and the most prevalent gram-positive organisms were staphylococcus aureus and Enterococcus species. The antimicrobial susceptibility testing revealed that most of the Staphylococcus aureus isolates were highly resistant to methicillin (p=0.002), whereas Enterococcus species were resistant to vancomycin (p=0.000). CONCLUSION: The choice of empirical antibiotic regimen should be based on local spectrum of bacteria and their regional susceptibility pattern to improve the survival and minimize hospital stay of patients.

11.
Transfus Med ; 30(1): 46-50, 2020 Feb.
Article En | MEDLINE | ID: mdl-31854052

OBJECTIVE: The aim of this study was to assess abnormality of coagulation and anticoagulation parameters in dengue fever patients and the impact of these tests on the management of patients. BACKGROUND: Dengue fever is endemic in Pakistan with seasonal rise in cases. Morbidities and mortalities are proportionately reported to be increasing and associated with disseminated intravascular coagulation resulting in haemorrhagic or thrombotic manifestations in patients having deranged coagulation profiles. METHODS/MATERIALS: This observational and descriptive study was conducted on confirmed Dengue patients at the National Institute of Blood Diseases during the years 2013 to 2016. Patients of all age groups were included in this study. Results were analysed by SPSS version 23. RESULTS: A total of 200 patients were selected with the mean age being 28.68 years (±13.28) and male predominance (147/200). The mean platelet count, haemoglobin and haematocrit at base line for bleeders and non-bleeders showed significant results, where platelet count at baseline for bleeders was 24 000, whereas for non-bleeders it was 29 000 and it showed significant correlation with bleeding (P-value .027). Platelets were transfused to 76 (38%) patients. However, none of the specialised haemostasis parameters beside the platelet count correlated with bleeding, requiring platelet transfusions. CONCLUSION: Our study showed a significant association of platelet counts, haemoglobin and haematocrit with bleeding. It can be concluded that coagulation and anticoagulation profiles will not benefit the management of dengue patients and in countries like Pakistan, it will only add to the economic burden on the patients.


Blood Coagulation , Disseminated Intravascular Coagulation , Hemorrhage , Platelet Transfusion , Severe Dengue , Adolescent , Adult , Disseminated Intravascular Coagulation/blood , Disseminated Intravascular Coagulation/epidemiology , Disseminated Intravascular Coagulation/therapy , Female , Hemorrhage/blood , Hemorrhage/epidemiology , Hemorrhage/therapy , Humans , Male , Pakistan/epidemiology , Severe Dengue/blood , Severe Dengue/epidemiology , Severe Dengue/therapy
12.
Indian J Microbiol ; 59(2): 188-192, 2019 Jun.
Article En | MEDLINE | ID: mdl-31031433

Febrile neutropenia is a medical emergency that complicates the clinical course and treatment of haematological malignancies, significantly enhancing the financial burden and worsening the overall outcome. This study was carried out to evaluate the efficacy of institution's current first-line antibiotic regimen for febrile neutropenia in view of recent spectrum of institution's local flora and its susceptibility pattern. 163 episodes of microbiologically documented infections in 110 adult patients were studied over a period of 1 year. Of 110 patients, 61 patients were male. The mean age of the patient population, mean absolute neutrophil count and temperature as documented were 30.1 years (SD ± 16.8), 450 cells/ul, and 101.9 °C respectively. Gram-negative and gram-positive organisms accounted for 79% and 21% of the febrile neutropenic infections respectively. E. coli and Staphylococcus aureus were the most common gram positive and gram negative pathogens respectively. A susceptibility pattern of > 60% was documented for all the gram negative pathogen's associated febrile neutropenic infections for the current first-line antibiotic combination of Piperacillin/Tazobactum and Amikacin. Comparative analysis of results with the institutional data of 2015 study revealed no statistically significant difference in the resistance pattern of the organisms hence, validating the persistent use of Piperacillin/Tazobacum and Amikacin combination as a potent and efficacious therapy for febrile neutropenia patients with haematological malignancies. However, continuous surveillance remains prudent for the emerging changes in the spectrum and resistance pattern of local flora so that timely revision of empirical antibiotic regimens can save the added financial burdens and associated high morbidity and mortality.

13.
Cancer Manag Res ; 11: 1493-1502, 2019.
Article En | MEDLINE | ID: mdl-30863159

BACKGROUND: Nilotinib (Tasigna®) is a second-generation tyrosine kinase inhibitor that shows faster and deeper molecular responses (MR) in comparison to Imatinib as initial therapy in chronic phase chronic myeloid leukemia (CML). Efficacy and safety data for nilotinib in the Asian population is scarce, particularly in Pakistan. We aimed to determine the MR to nilotinib and its safety profile in patients with chronic phase CML. PATIENTS AND METHODS: This observational study was conducted among 173 patients with newly diagnosed CML presenting in the chronic phase. Most patients (50.1%) had a high Sokal score at diagnosis. All patients received nilotinib 600 mg/day. The hematological and molecular responses were assessed at 3 and 6 months respectively and thereafter at 6-monthly intervals. Long-term event free survival (EFS), transformation free survival (TFS), overall survival (OS) and adverse events were observed. RESULTS: Cumulative incidence of major MR (MMR) was 86% and deep MR (DMR ie MR 4.0 and MR4.5) was 39%. Early MMR and DMR after 6 months of therapy were achieved by 74.9% and 37% of patients, respectively. Two-year EFS, TFS and OS rates for all patients were 91.9%, 92% and 92.3%, respectively. At median follow-up of 24 months, 81% and 49% of patients sustained MMR and DMR, respectively. The main adverse events were weight gain (4.6%) and abdominal pain (4%). CONCLUSION: This study showed promising results in terms of achievement of early and sustained DMR in chronic phase CML, therefore, we recommend nilotinib as frontline treatment in Pakistani population.

14.
Transfus Apher Sci ; 57(4): 556-560, 2018 Aug.
Article En | MEDLINE | ID: mdl-29921547

BACKGROUND: Hemophilia is an inherited bleeding disorder. With proper treatment and self-care, persons with hemophilia can maintain an active, productive lifestyle. Hemophilia can be mild, moderate, or severe, depending on the degree of plasma clotting factor deficiency. The aim of the study was to assess the utility of ISTH-BAT in diagnosis, determining severity of the bleeding condition in newly diagnosed and known hemophilia patients, compare the bleeding score (BS) in adult and pediatric groups and investigate its association with plasma factor levels. METHODS: ISTH-BAT was used to assess BS in a total of 115 patients, 78 with hemophilia A, and 37 with hemophilia B and in 100 controls. RESULTS: BS was significantly higher in HA and HB patients as compared to controls, with no significant difference between HA and HB. The BS was very similar in newly diagnosed compared to known hemophilia patients, lower in pediatric compared to adult and higher in severe compared to mild HA patients. CONCLUSION: The ISTH BAT can help identify hemophilia patients. Therefore it is a useful tool to distinguish between affected and unaffected individuals with bleeding. Moreover, an important finding of our study is that there is no major difference between the scores in known and newly diagnosed patients.


Blood Platelet Disorders/diagnosis , Hemophilia A/diagnosis , Hemorrhage/diagnosis , Adolescent , Blood Platelet Disorders/genetics , Child , Female , Hemophilia A/pathology , Humans , Male
15.
Mol Cytogenet ; 10: 17, 2017.
Article En | MEDLINE | ID: mdl-28491138

BACKGROUND: Myelodysplastic syndromes (MDS) are clonal stem cell disorders exhibiting cytopenias, ineffective hematopoiesis and morphological dysplasia. Bone marrow cytogenetics, inspite of being incorporated as mandatory tool in diagnosis are done less frequently due to limited availability of this technique in Pakistan. The aim of the study was to study baseline clinicohematological and cytogenetic characteristics of patients presenting with de novo MDS. RESULTS: A retrospective cross sectional study was done at National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan from 2010 to 2016. Total of 177 patients were included in the study having median age 51 years and male to female ratio of 3:1. Pancytopenia was observed in 80 (45%) patients and bicytopenia in 74 (42%). Mean Hb% was 7.8 ± 2.18 g/dl, total leukocyte count (TLC) 8.8 ± 13.6 × 109/l, platelet count was 82 ± 95.7 × 109/l. Of total 170 (96%) were transfusion dependent. Refractory cytopenias with multilineage dysplasia (RCMD) was the most common world health organization (WHO) category. Karyotype was done in 98 (55%) patients out of which 44 (45%) had abnormal karyotype, complex karyotype (CK) was most commonly observed in 12 (12.2%) followed by monosomy 7 in 7 (7.1%). CONCLUSIONS: We found younger median age at diagnosis, higher mean TLC and no significant history of recurrent infections. CK and monosomy 7 carry bad prognostic implications and early disease transformation to acute myeloid leukemia (AML). Monosomy 7 being associated with bad overall survival, such patients must be identified early with close clinical follow up and offered stem cell transplant. This is the largest cohort of patients of MDS evaluated for baseline clinical and cytogenetic characteristics in our country.

16.
BMC Hematol ; 16: 27, 2016.
Article En | MEDLINE | ID: mdl-27891232

BACKGROUND: Transfusion-transmitted infections threaten the safety of patients requiring blood transfusion, which in turn imposes serious challenges for the availability of safe blood products that are still affordable in health care systems with limited resources. The aim of the study was to determine the prevalence of transfusion-transmitted infections in blood donors and to evaluate the demographic characteristics of reactive and non-reactive blood donors. METHODS: A prospective cohort study was conducted at our institute in Karachi, Pakistan. Donors were required to fill a detailed questionnaire and were screened for Hepatitis B, Hepatitis C, Human immunodeficiency viruses, Syphilis and Malaria by ELISA and thick film (malaria). RESULTS: Of the 16,602 blood donors, 16,557 were males and 45 females (mean age 28.6 ± 2). Nine hundred and seventy three (5.8%) donations were reactive in any screening assay, with 58 (0.35%) donations reacting in more than one assay. The prevalence of Hepatitis B, Hepatitis C, Human immunodeficiency viruses, Syphilis and Malaria was found to be 1.84, 1.7, 0.04, 2.1 and 0.07% respectively. Characteristics among the infections were evaluated and it was found that unmarried donors had a higher chance to be infected by Hepatitis B virus and Syphilis as compared to the other infections. On the other hand, construction workers and married donors were at more risk to be infected by Syphilis rather than the other infections. In case of co-infections, personnel with different occupations and marital status were infected by more than one pathogen. CONCLUSION: A substantial percentage of the blood donor's harbored transfusion-transmitted infections. Prevention of TTIs should be the main goal right now. There is a need for stringent selection of blood donors with the emphasis on getting voluntary donations and comprehensive screening of donor's blood for TTIs using standard methods to ensure the safety of blood recipient.

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