BackgroundTransfusion-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.MethodsA 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).ResultsOf 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.ConclusionA 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.
Background Careful assessment of bleeding history is the first step in the evaluation of patients with mild/moderate bleeding disorders, and the use of a bleeding assessment tool (BAT) is strongly encouraged. Although a few studies have assessed the utility of the ISTH‐BAT in patients with inherited platelet function disorders (IPFD) none of them was sufficiently large to draw conclusions and/or included appropriate control groups. Objectives The aim of the present study was to test the utility of the ISTH‐BAT in a large cohort of patients with a well‐defined diagnosis of inherited platelets disorder in comparison with two parallel cohorts, one of patients with type‐1 von Willebrand disease (VWD‐1) and one of healthy controls (HC). Patients/Methods We enrolled 1098 subjects, 482 of whom had inherited platelet disorders (196 IPFD and 286 inherited platelet number disorders [IT]) from 17 countries. Results IPFD patients had significantly higher bleeding score (BS; median 9) than VWD‐1 patients (median 5), a higher number of hemorrhagic symptoms (4 versus 3), and higher percentage of patients with clinically relevant symptoms (score > 2). The ISTH‐BAT showed excellent discrimination power between IPFD and HC (0.9 < area under the curve [AUC] < 1), moderate (0.7 < AUC < 0.9) between IPFD and VWD‐1 and between IPFD and inherited thrombocytopenia (IT), while it was inaccurate (AUC ≤ 0.7) in discriminating IT from HC. Conclusions The ISTH‐BAT allows to efficiently discriminate IPFD from HC, while it has lower accuracy in distinguishing IPFD from VWD‐1. Therefore, the ISTH‐BAT appears useful for identifying subjects requiring laboratory evaluation for a suspected IPFD once VWD is preliminarily excluded.
Background: Covid-19 spread through blood transfusion has not yet been reported. Despite the prevailing pandemic, there are no recommendations available as yet for testing SARS-CoV-2 antibodies as part of blood screening. Objective: To determine the seroprevalence of SAR-CoV-2 antibodies, its clinical significance and to identify if total antibodies(IgA, IgM, IgG) should be tested or just the specific IgG antibodies only. Method: Consecutive blood donors donated were screened for standard serological panel of HbsAg, Anti-HCV, Anti-HIV and Syphilis using Cobas-411 analyser and Malaria. All seronegative donors were then screened for COVID serology using the same instrument. These results were compared with the blood donors' seroprevalence checked in a cohort in the first week of June 2020. Pre-COVID-19 period (October 2019) blood donors' archived samples were also compared. Donors who were positive on ECLIA were then tested for specific antibodies (IgM or IgG) by ELISA. Results: A total of 380 healthy blood donors were included. All were males with the mean age being 30.6 ± 6.3 years. Ten pre-pandemic samples did not show COVID-19 antibodies, whereas out of 70 samples in the 3rd week of June, only 15 (21.4 %) were positive. However, in July out of the 300 blood donors, 113 (37.7 %) were found to be reactive. To reconfirm our findings, these 113 donors were then tested on ELISA for presence of IgG specifically. Out of these 128 samples, 81 were IgG positive, 23 were borderline positive and 24 were negative. Conclusion: Almost 40 % of blood donors are now seroconverted for COVID-19. This is a reflection of widespread seroprevalence in the adult male population.
ObjectiveTo determine the frequency and clinical features of bleeding disorders in the tribe as a result of consanguineous marriages.DesignCross Sectional StudyIntroductionCountries in which consanguinity is a normal practice, these rare autosomal recessive disorders run in close families and tribes. Here we describe a family, living in village Ali Murad Chandio, District Badin, labeled as haemophilia.Patients & MethodsOur team visited the village & developed the pedigree of the whole extended family, up to seven generations. Performa was filled by incorporating patients, family history of bleeding, signs & symptoms, and bleeding from any site. From them 144 individuals were screened with CBC, bleeding time, platelet aggregation studies & RiCoF. While for PT, APTT, VWF assay and Factor VIII assay, samples were kept frozen at -70 degrees C until tested.ResultsThe family tree of the seven generations comprises of 533 individuals, 63 subjects died over a period of 20 years and 470 were alive. Out of all those 144 subjects were selected on the basis of the bleeding history. Among them 98(68.1%) were diagnosed to have a bleeding disorder; 44.9% patients were male and 55.1% patients were female. Median age of all the patients was 20.81, range (4 months- 80 yrs). The results of bleeding have shown that majority had gum bleeding, epistaxis and menorrhagia. Most common bleeding disorder was Von Willebrand disease and Platelet functional disorders.ConclusionConsanguineous marriages keep all the beneficial and adversely affecting recessive genes within the family; in homozygous states. These genes express themselves and result in life threatening diseases. Awareness, education & genetic counseling will be needed to prevent the spread of such common occurrence of these bleeding disorders in the community.
Fibrinogen is a plasma glycoprotein mainly synthesised by hepatocytes and circulating as a 340-kDa hexamer consisting of two sets of three different polypeptide chains (Aα, Bβ, and γ, encoded by the FGA, FGB, and FGG gene, respectively). Congenital afibrinogenaemia and hypofibrinogenaemia are rare bleeding disorders characterised by abnormally low levels of functional and immunoreactive fibrinogen in plasma, associated with haemorrhagic manifestations of variable severity. While afibrinogenaemia is caused by mutations in the homozygous or compound heterozygous state in one of the three fibrinogen genes, hypofibrinogenaemia is generally due to heterozygous mutations, and is usually characterised by a milder phenotype. The mutational spectrum of these quantitative fibrinogen disorders includes large deletions, point mutations causing premature termination codons, and missense mutations often affecting fibrinogen assembly and/or secretion. Here we report the clinical and molecular characterisation of 13 unrelated afibrinogenaemic and eight hypofibrinogenaemic patients, leading to the identification of 17 different mutations (10 hitherto unknown). All the newly-identified missense and splicing mutations werein vitro expressed to verify their pathogenic role. Our data increase the number of mutations causing quantitative fibrinogen deficiencies by about 7 %. The high number of private mutations identified in the analysed probands indicates that the full mutational screening of the three fibrinogen genes is still required for molecular diagnosis.
This study reported a fairly similar pattern of donor deferrals as in other regional studies. Low haemoglobin levels and a history of hepatitis B infection were the most common factors for temporary and permanent donor deferrals, respectively.
The aim of the study was to assess the prevalence of HCV, HBV, and HIV infections among the patients with hemophilia. Patients with Hemophilia A and B were evaluated who visited hospital for factor replacement therapy. The viral markers tested in these patients included anti-HCV-Ab, HBsAg, and anti-HIV-Ab. Seroprevalence was compared from 5717 exchange healthy blood donors for same markers. A total of 173 multitransfused male hemophiliacs showed prevalence of 51.4% for HCV, 1.73% for HBV, and nil for HIV. In blood donors seroprevalence was 1.9% for HCV, 1.81% for HBV, while no HIV-positive case was detected. Prevalence of anti-HCV-Ab was significantly high in patients with hemophilia than normal donors (P = .0005). This study showed that HCV infection was more frequently identified than HBV and HIV infections in multitransfused hemophiliacs. The frequency of hepatitis C among blood donors is also higher than that of hepatitis B which is showing downward trend.
Inherited factor VII (FVII) deficiency is one of the commonest rare bleeding disorders. It is characterized by a wide molecular and clinical heterogeneity and an autosomal recessive pattern of inheritance. Factor VII-deficient patients are still scarcely explored in Pakistan although rare bleeding disorders became quite common as a result of traditional consanguineous marriages. The aim of the study was to give a first insight of F7 gene mutations in Pakistani population. Ten unrelated FVII-deficient patients living in Pakistan were investigated (median FVII:C = 2%; range = 2-37%). A clinical questionnaire was filled out for each patient and direct sequencing was performed on the coding regions, intron/exon boundaries and 5' and 3' untranslated regions of the F7 gene. Nine different mutations (eight missense mutations and one located within the F7 promoter) were identified on the F7 gene. Five of them were novel (p.Cys82Tyr, p.Cys322Ser, p.Leu357Phe, p.Thr410Ala, c-57C>T, the last being predicted to alter the binding site of transcription factor HNF-4). Half of the patients had single mutations in Cys residues involved in disulfide bridges. The p.Cys82Arg mutation was the most frequent in our series. Six of seven patients with FVII:C levels below 10% were homozygous in connection with the high percentage of consanguinity in our series. In addition, we graded the 10 patients according to three previously published classifications for rare bleeding disorders. The use of the bleeding score proposed by Tosetto and co-workers in 2006 appears to well qualify the bleeding tendency in our series.
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