Factor VII deficiency presenting with subarachnoid hemorrhage: a rare case report

Factor VII (FVII) deficiency is a rare inherited bleeding disorder affecting about 1 in 500 000 individuals. It has a wide range of clinical presentations, from moderate or even asymptomatic forms that do not correlate well with FVII plasma levels to severe and potentially fatal bleeding. As a result, dealing with FVII-deficient patients during surgery or for long-term prophylaxis is difficult. Laboratory testing for FVII activity, in addition to clinical history, is the first-line method for diagnosing FVII deficiency and aids in patient management

Clinical and laboratory features of JAK2 v617f, CALR, and MPL mutations in Malaysian patients with classical myeloproliferative neoplasm (MPN)

Mutations of JAK2V617F, CALR, and MPL genes confirm the diagnosis of myeloproliferative neoplasm (MPN). This study aims to determine the genetic profile of JAK2V617F, CALR exon 9 Type 1 (52 bp deletion) and Type 2 (5 bp insertion), and MPL W515 L/K genes among Malaysian patients and correlate these mutations with clinical and hematologic parameters in MPN. Mutations of JAK2V617F, CALR, and MPL were analyzed in 159 Malaysian patients using allele-specific polymerase chain reaction, including 76 polycythemia vera (PV), 41 essential thrombocythemia (ET), and 42 primary myelofibrosis (PMF) mutations, and the demographics of the patients were retrieved. The result showed that 73.6% JAK2V617F, 5.66% CALR, and 27.7% were triple-negative mutations. No MPL W515L/K mutation was detected. In ET and PMF, the predominance type was the CALR Type 1 mutation. In JAK2V617F mutant patients, serum LDH was significantly higher in PMF compared to PV and ET. PV has a higher risk of evolving to post PV myelofibrosis compared to ET. A thrombotic event at initial diagnosis of 40.9% was high compared to global incidence. Only one PMF patient had a CALR mutation that transformed to acute myeloid leukemia. JAK2V617F and CALR mutations play an important role in diagnostics. Hence, every patient suspected of having a myeloproliferative neoplasm should be screened for these mutations

Blood transfusion knowledge among nurses in Malaysia:a university hospital experience

Blood transfusion is a fundamental and life-saving procedure where the consequence of errors can be fatal. Nurses’ knowledge plays an essential role in ensuring quality and safety in blood transfusion. The objective of this study was to assess blood transfusion-associated knowledge of tertiary hospital nurses on the east coast of Malaysia. This was a cross-sectional study with 200 registered nurses involved in blood transfusion procedures at Hospital Universiti Sains Malaysia. The knowledge of the nurses was evaluated by using the routine blood transfusion knowledge questionnaire based on five parts, and <50%, 50–74%, or ≥75% of the knowledge was considered as poor, moderate, or high, respectively. Based on the scoring system, the overall knowledge of blood transfusion among Malaysian nurses (33.2 ± 8.4 years) was estimated to be 54.9 ± 7.6%. In individual items, the scoring was 81.0%, 45.4%, 49.2%, 63.0%, and 90.0% in knowledge prior to blood transfusion, on pre-transfusion, on post-transfusion, on complications, and on transfusion policy, respectively. The findings of this study indicated that most of the nurses’ overall knowledge of blood transfusion was at a moderate level; therefore, training courses and continuous medical education are warranted to improve knowledge and skills of the nurses to ensure good practices of blood transfusion

Detection of anti-D and anti-G in a pregnant woman: a case report

Antibody identification in Rh-negative pregnant women is usually done to detect RhD alloimmunisation. The G antigen is part of the Rh blood group and is ubiquitous on most D-positive red cells. The detection of anti-G however is complicated. The objective of this case report is to highlight the importance of identifying anti G correctly especially in managing antenatal patients. We herein report a case of a 30-year-old pregnant woman, who was thought to have anti-D and anti-C on initial antibody identification, was subsequently found out to have anti-G and anti-D on further testing

A comparison of haematopoietic progenitor cells enumeration using sysmex haematology analyzer and standard flow cytometry

The CD34+ antigen is present on immature haematopoietic progenitor cells and all haematopoietic colony-forming cells in bone marrow and blood. 'The administration of recombinant human granulocyte colony-stimulating factor (rhG-CSF) has emerged as an efficient way to accomplish mobilization peripheral blood stem cells (PBSCs). The decision to harvest PBSC is based on the enumeration of CD 34 cells by flow cytometry in which require daily CD34+ monitoring after given chemotherapy-based mobilization regimens. Currently, CD34+ enumeration will be initiated when the white blood cell (WBC) count is more than 1 X 10J /pL. Flow cytometry assays have been used as a standard method for CD34+ enumeration in leukapheresis products before peripheral stem cell collection. However, flow cytometry techniques are time consuming, complex and expensive. Recently, technology has become available on a routine haematology analyzer that enables the detection of hematopoietic progenitor cells (HPC). Detection and enumeration of HPC by Sysmex haematology analyzer could provide a standard, cost effective and rapid alternative for predicting the yield of stem cells. The aims of this study were 1) To compare Haematopoietic Progenitor cells (HPC) enumeration by using Sysmex haematology analyzer and CD34+ count by standard flow cytometry in cord blood. ; 2) To correlate the number of CD34+ cells by standard flow cytometry with Haematopoietic Progenitor cells (HPC), white blood cells (WBC), immature platelet fraction (IPF), Reticulocyte (retie) and immature reticulocyte fraction (IRF) acquired by Sysmex haematology analyzer in patient on Granulocyte growth stimulating factor ( G-CSF) and 3) to predict the level of CD34+ cells by using the haematological parameters derived from Sysmex haematology analyzer. A cross sectional study was done in Stem Cell laboratory at HUSM from November 2008 to June 2009. 3mls of EDTA anticoagulated blood from cord blood of 95 newborns were collected and 68 samples of 3mls EDTA anticoagulated blood were collected from 19 adult patients with haematological malignancies from HUSM who had received chemotherapybased mobilization regimens including G-CSF. Progenitor cell quantification was performed measuring HPC counts as well as other haematological parameters, WBC, IPF, RETIC and IRF counts provided by the Sysmex XE-2100 haematology analyzer and CD34+ counts obtained in parallel by flow cytometry. Data were analyzed using the Statistical Packages for Social Sciences (SPSS) software version 12.0. Analysis of the umbilical cord blood showed that mean(SD) for HPC count was 32.6 (34.3) X 106/ L and mean(SD) for CD34+ count was 36.8 (27.2) X 106/ L. There was no significant difference between mean HPC count and CD34+ count. Blood samples from adult patient with haematological malignancies, were analysed by Spearman correlation, showed a highly significant correlation between CD34+ and HPC count (r = 0.703 , pO.OOl), WBC ( r = 0.482 , pO.OOl), Retie ( r = 0.498 , pO.OOl) and IPF (r = 0.453 , pO.OOl) but not with IRF ( r = -0.073 , p = 0.552). The other objective was to determined the optimal cut-off point for the haematological parameters that predicts CD34+ count of > 20 X 106/ L. This is because in current practice the harvest will be initiated when CD34+ count is > 20 X 106/ L. The result showed that HPC, IPF, Retie, WBC and IRF threshold were > 21.5 X 106/L, > 26.1%, > 1% , > 23.1 X 109/L and > 8.9% respectively wirh sensitivity and specificity were (77% and 64%, 77% and 50%, 73% and 64% , 73% and 50% and 52% respectively). In this study we found that, there is a significant correlation between the number of CD34+ cells measured using flow cytometry with HPC, RETIC, WBC, IPF measured by Sysmex haematology analyzer but not with IRF. This study revealed that HPC, WBC, RETIC and IPF counts can be applied independently into clinical protocol to evaluate the timing of leukapheresis for starting PBSC collection

Detection of β-globin Gene Mutations Among β-thalassaemia Carriers and Patients in Malaysia: Application of Multiplex Amplification Refractory Mutation System–Polymerase Chain Reaction

Background: β-thalassaemia is one of the most common single-gene disorders worldwide. Each ethnic population has its own common mutations, accounting for the majority of cases, with a small number of mutations for the rarer alleles. Due to the heterogeneity of β-thalassaemia and the multi-ethnicity of Malaysians, molecular diagnostics may be expensive and time consuming. Methods: A simple polymerase chain reaction (PCR) approach involving a multiplex amplification refractory mutation system (MARMS) and one amplification refractory mutation system (ARMS), consisting of 20 β-globin gene mutations, were designed and employed to investigate β-thalassaemia patients and carriers. Results: Out of 169 carriers tested with the MARMS, Cd 41/42 (–TTCT), Cd 26 (A–G) HbE, IVS 1–1 (G–T), and IVS 1–5 (G–C) were the most common mutations, accounting for 78.1%. Among the Malays, Cd 26 (A–G) HbE, Cd 41/42 (–TTCT), IVS 1–1 (G–T), and IVS 1–5 (G–C) were the most common mutations, accounting for 81.4%, whereas Cd 41/42 (–TTCT) and IVS 2–654 (C–T) were most common among the Chinese (79.1%). Conclusion: We propose the use of this cheap, easy to interpret, and simple system for the molecular diagnostics of β-thalassaemia among Malaysians at the Institute for Medical Research (IMR)

Transfusion medicine and molecular genetic methods

Transfusion procedures are always complicated by potential genetic mismatching between donor and recipient. Compatibility is determined by several major antigens, such as the ABO and Rhesus blood groups. Matching for other blood groups (Kell, Kidd, Duffy, and MNS), human platelet antigens, and human leukocyte antigens (HLAs) also contributes toward the successful transfusion outcomes, especially in multitransfused or highly immunized patients. All these antigens of tissue identity are highly polymorphic and thus present great challenges for finding suitable donors for transfusion patients. The ABO blood group and HLA markers are also the determinants of transplant compatibility, and mismatched antigens will cause graft rejection or graft-versus-host disease. Thus, a single and comprehensive registry covering all of the significant transfusion and transplantation antigens is expected to become an important tool in providing an efficient service capable of delivering safe blood and quickly locating matching organs/stem cells. This review article is intended as an accessible guide for physicians who care for transfusion-dependent patients. In particular, it serves to introduce the new molecular screening methods together with the biology of these systems, which underlies the tests

A Review on Secondary Immune Thrombocytopenia in Malaysia

Immune thrombocytopenia (ITP) is an acquired autoimmune disease that occurs in adults and children. In Malaysia, the clinical practice guideline (CPG) for the management of ITP was issued in 2006, which focused almost exclusively on primary ITP (pITP), and only a few secondary ITP (sITP) forms were addressed. All published (twenty-three) sITP articles among children and adults in Malaysia, identified on the academic databases were retrieved. The articles were published between 1981 and 2019, at a rate of 0.62 publications per year. The publications were considered low and mainly focused on rare presentation and followed-up of secondary diseases. This review revealed that sITP in Malaysia is commonly associated with autoimmune diseases (Evan’s syndrome, SLE and WAS), malignancy (Kaposi’s sarcoma and breast cancer) and infection (dengue haemorrhagic fever, Helicobacter pylori and hepatitis C virus). The relationship between ITP and autoimmune diseases, malignancy and infections raise the question concerning the mechanism involved in these associations. Further studies should be conducted to bridge the current knowledge gap, and the further information is required to update the existing CPG of management of ITP in Malaysia