ABSTRACT
Objectives: 1: To assess the diagnostic utility of three polymorphisms [DdeI, XmnI and TaqI] and direct sequencing in haemophilia B [HB] carrier detection in Pakistani families. 2: To compare phenotypes of HB carriers with those of healthy females
Methods: The study was conducted from March 2014 till February 2016 at Khyber Medical University Peshawar and National Institute of Blood Diseases, Karachi. Individuals from HB families of Khyber Pakhtunkhwa [KP] and Federally Administered Tribal Areas [FATA] with known F9 mutation in the proband were enrolled into the study. FIX activity [FIX:C] levels were determined in all the participants. Bleeding scores [BS] and complete blood counts were performed in the female participants. Linkage analysis followed by targeted Sanger sequencing was carried out in all the study participants. Heterozygosity rate was determined for each polymorphism. Healthy females and the carrier groups were compared for bleeding phenotypes
Results: A total of 30 males and 48 females from 13 HB families were studied. The polymorphisms had a low heterozygosity rate. Direct sequencing determined the carrier status in all cases. The mean FIX:C was reduced whereas BS was raised in the carriers when compared with healthy females. A significant raise in white blood cells [WBCs] count was observed in the carriers
Conclusion: The three polymorphisms have a low heterozygosity rate in HB families from KP and FATA. Sanger sequencing is conclusive in determining carrier status in all the cases. FIX:C is low and BS is raised in the HB carriers in comparison to that of normal females. The mean WBCs count is significantly higher in the HB carriers than the normal females
ABSTRACT
Background and Objective: Immune thrombocytopenic purpura [ITP] is a clinical syndrome in which a decreased number of circulating platelets [thrombocytopenia] manifests as a bleeding tendency, easy bruising [purpura] or extravasation of blood from capillaries into skin and mucous membranes [petechiae]. The diagnosis of ITP can be made clinically on the basis of symptoms, we need to see if ITP can be confirmed in patients by quantification of residual RNA containing immature platelets [megakaryocytic mass] or immature platelets fraction [IPF] using automated hematology analyzers [Sysmex XE-2100]
Methods: In order to check the efficacy of IPF% parameter of Sysmex XE-2100 a total of 231 patients of thrombocytopenia were included in this study. Complete blood count [CBC] was estimated. The data was statistically analyzed by SPSS version 17
Results: About 62 patients were diagnosed as ITP and 169 patients were diagnosed as non ITP on the basis of clinical history. The mean IPF % value of ITP patients was 16.39% and the IPF % value of Non ITP patients was 7.69% respectively. There was no significant difference in IPF% values with respect to time between sampling and acquisition of complete blood count. The diagnostic sensitivity of IPF% as biomarker for ITP and non-ITP was 85.71% [95% CI: 84.04% to 85.96%] and 41.76% [95% CI: 39.87% to 43.65%]
Conclusion: The mean IPF % value by Sysmex XE-2100 can be used to predict ITP
ABSTRACT
To analyze patients suffering from aplastic anemia [AA, peripheral pancytopenia and hypocellular bone marrow in the absence of dysplasia, infiltration and fibrosis] for documenting patient's baseline characteristics and association with various human leucocyte antigens. An observational, cross-sectional study. The National Institute of Blood Disease [NIBD], Karachi, from March 2003 to August 2008. All consecutive patients with confirmed diagnosis of AA were evaluated. Data included the baseline characteristics, complete blood counts [CBC], bone marrow biopsy findings, severity of disease, exposure to drugs or chemicals, viral serology and their HLA expression. The data was analyzed on SPSS programme and frequencies were documented. Among 318 patients, there were 236 [74.21%] males and 82 [25.78%] females. Median age was 16 and 70% belonged to urban population. Drug exposure could be established in 23 [7.23%] of cases, while 4 [1.25%] were HBV surface antigen positive and 7 [2.2%] were HCV antibodies positive. In all, 73 [22.9%] had very severe AA, 195 [61.32%] had severe AA while 50 [15.7%] cases had non-severe AA. HLA B5 [52] showed high expression in 83 patients [26%] in comparison to 5.9% reported in healthy population. AA was found to affect young adult males living in urban areas. HLA B5 [52] showed higher expression in patients with aplastic anemia
ABSTRACT
The immunochromatographic rapid tests facilitate the early diagnosis of dengue by providing evidence of the presence of virus specific proteins [antigens/ antibody] in human blood. Many products for rapid dengue diagnosis are available in the market; the performance of few selected products was evaluated and compared with enzyme linked immuno sorbent assays [ELISA]. Sera from a large number of patients [n=184] admitted to National Institute of Blood Diseases and Bone Marrow Transplantation [NIBD] were used to determine the efficiency of non-structural [NS] 1, IgA, IgG and IgM based rapid test devices for dengue diagnosis. The dengue NS1 antigen based device was least efficient while among the antibody based devices the dengue IgA rapid test [RDT] was comparatively better [specificity: 80.95%; sensitivity: 85.21%]. This device could detect both primary and secondary dengue infection and was found to be the most sensitive device at all point of sample collection. The dengue IgA RDT could be a cost effective and efficient rapid test device for timely dengue diagnosis at all levels of healthcare settings
ABSTRACT
To determine the effectiveness and feasibility of transabdominal chorionic villi sample [CVS] procedure for prenatal diagnosis of beta-thalassaemia in a Muslim majority community. Between January 2005 and December 2011, we analysed 798 high-risk mothers with 12-16 weeks of pregnancy for beta-thalassaemia using CVS, performed with a transabdominal route under local anesthesia and ultrasound guidance. The chorionic villi extracted were investigated upon using genomic amplification of beta-globin gene by polymerase chain reaction [PCR]. A total of 798 of which 224[28%] fetus were diagnosed as major, 400[50.1%] as minor, 173[21.6%] as healthy fetus and 1[0.12%] fetus had undetected mutation. Procedure related complications were seen in 20 cases [2.4%] and missed abortion occurred in 6/798. Seven [3%] couples had refused to abort beta-thalassaemia major fetus where as 97% fetus was aborted as per recommendations. Ultrasound guided transabdominal CVS is an effective procedure for prenatal diagnosis of beta- thalassaemia in a Muslim community. We found no cultural hurdles for fetal sampling and prenatal diagnosis
ABSTRACT
The case report of a 2 year old boy with steroid refractory DBA, treated with allogeneic PBSCT from an HLA matched sibling is presented. Anti-IL2 receptor antibody Daclizumab was used as a prophylaxis for graft versus host disease [GvHD]. Complete recovery without any evidence of GvHD ensued
Subject(s)
Humans , Male , Anemia, Diamond-Blackfan/surgery , Graft vs Host Disease/prevention & control , Stem Cell Transplantation , Transplantation, Homologous , Steroids , Drug Resistance , Receptors, Interleukin-2/immunologyABSTRACT
To present the survival and evaluate the demographic characteristics as risk factors for acute and chronic graft versus host disease [GvHD] in 100 recipients of HLA identical related allogeneic peripheral blood stem cell transplantation. Indications for transplant were non-malignant and malignant haematological disorders. Bu/Cy conditioning was given for haematological malignancies and b-Thalassaemia major, Cyclophosphamide was given in aplastic anaemia. GvHD prophylaxis was Cyclosporin and Methotrexate. The patients received a median nucleated cell dose of 7.93 108/kg. Of 100 recipients, 72 were males and 28 females. Median age was 13.5 years [range 1.5-44]. There were 65 male and 35 female donors. Median age was 15 years [range 4-45]. Grade-I aGvHD was noted in 18 [18%], Grades-II in 6 [6%], Grade-III in 3 [3%] while Grade-IV in 1 [1%] patients. Diagnosis was found to be a significant risk factor for aGvHD. Kaplan Meyer analysis showed that malignancy, aGvHD, recipients above 14 years of age, female patients and engraftment after 12 days were associated with poor outcome. Of 78 patients alive beyond 100 days, 19 [24%] developed cGvHD. Mean follow up was 466 days [range 30-1766]. Median survival of this cohort of patients was 338 days [mean 479 days, 95% CI 72 - 729]. Incidence of acute and chronic GvHD was similar to published data. Grade of aGvHD, extent of cGvHD, female patients and haematological malignancies were associated with higher rate of aGvHD and a worse outcome
Subject(s)
Humans , Male , Female , Survival Rate , Graft vs Host Disease/prevention & control , Graft vs Host Disease/therapy , Acute Disease , Chronic Disease , Stem Cell Transplantation , Transplantation, HomologousABSTRACT
Recombinant activated factor VII is indicated mainly for the treatment of patients with haemophilia inhibitors. It has also been found successful in the treatment of platelet disorder Glanzmann's thrombasthenia. Recently, its use in trauma patients and in patients with intracereberal haemorrhage has become well established. We present three cases of massive post partum haemorrhage treated with rFVIIa, following caesarean section. The response of these three patients is discussed along with review of literature
Subject(s)
Humans , Female , Factor VIIa , ReviewABSTRACT
The case report of a 2 year old boy with steroid refractory DBA, treated with allogeneic PBSCT from an HLA matched sibling is presented. Anti-IL2 receptor antibody Daclizumab was used as a prophylaxis for graft versus host disease [GvHD]. Complete recovery without any evidence of GvHD ensued