Thalassemia is identified as a prevalent disease in Malaysia, known to be one of the developing countries. Fourteen patients with confirmed cases of thalassemia were recruited from the Hematology Laboratory. The molecular genotypes of these patients were tested using the multiplex-ARMS and GAP-PCR methods. The samples were repeatedly investigated using the Devyser Thalassemia kit (Devyser, Sweden), a targeted NGS panel targeting the coding regions of hemoglobin genes, namely the HBA1, HBA2, and HBB genes, which were used in this study. There were many different genetic variants found in 14 unrelated cases. Out of all fourteen cases, NGS was able to determine an additional -50 G>A (HBB:c.-100G>A) that were not identified by the multiplex-ARMS method, including HBA2 mutations, namely CD 79 (HBA2:c.239C>G). Other than that, CD 142 (HBA2:c.427T>C) and another non-deletional alpha thalassemia and alpha triplication were also not picked up by the GAP-PCR methods. We illustrated a broad, targeted NGS-based test that proposes benefits rather than using traditional screening or basic molecular methods. The results of this study should be heeded, as this is the first report on the practicality of targeted NGS concerning the biological and phenotypic features of thalassemia, especially in a developing population. Discovering rare pathogenic thalassemia variants and additional secondary modifiers may facilitate precise diagnosis and better disease prevention.
Red blood cell (RBC) alloimmunization is an important complication of blood transfusion. Variations in the frequency of alloimmunization have been noted among different patient populations. We aimed to determine the prevalence of RBC alloimmunization and associated factors among chronic liver disease (CLD) patients in our center. This is a case-control study involving 441 patients with CLD who were being treated at Hospital Universiti Sains Malaysia and subjected to pre-transfusion testing from April 2012 until April 2022. Clinical and laboratory data were retrieved and statistically analyzed. A total of 441 CLD patients were included in our study, with the majority being elderly, with the mean age of patients 57.9 (SD ± 12.1) years old, male (65.1%) and Malays (92.1%). The most common causes of CLD in our center are viral hepatitis (62.1%) and metabolic liver disease (25.4%). Twenty-four patients were reported to have RBC alloimmunization, resulting in an overall prevalence of 5.4%. Higher rates of alloimmunization were seen in females (7.1%) and patients with autoimmune hepatitis (11.1%). Most patients developed a single alloantibody (83.3%). The most common alloantibody identified belonged to the Rh blood group, anti-E (35.7%) and anti-c (14.3%), followed by the MNS blood group, anti-Mia (17.9%). There was no significant factor association of RBC alloimmunization among CLD patients identified. Our center has a low prevalence of RBC alloimmunization among CLD patients. However, the majority of them developed clinically significant RBC alloantibodies, mostly from the Rh blood group. Therefore, phenotype matching for Rh blood groups should be provided for CLD patients requiring blood transfusions in our center to prevent RBC alloimmunization.
Heterozygous haemoglobin E (Hb E) with deletional alpha (α)-thalassaemia is commonly seen in Southeast Asia including Kelantan, a Northeastern state of Malaysia. Studies in Malaysia showed that Hb E is the commonest among Malay Kelantan, Penang and Senoi group of Orang Asli [1-5]. This study aimed to compare the haematological parameters (Hb, RBC, MCV, MCH, RDW and Hb E) among the heterozygous Hb E with deletional α-thalassaemia subjects. This study also intended to ascertain a cut-off value for heterozygous Hb E with deletional α-thalassaemia using automated capillary electrophoresis method. A cross-sectional study was conducted involving secondary data collection of 219 samples of heterozygous Hb E with possible α-thalassaemia from all districts of Kelantan. Full blood count (FBC) was analysed using Sysmex XN 3000 automated blood cell analyser (Kobe, Japan). Hemoglobin (Hb) analysis was performed using automated CE system (Capillarys2; Sebia, France). Molecular characterisation was performed using multiplex gap-PCR and ARMS-PCR to detect both deletional and non-deletional α-thalassaemia, respectively. Qualitative data were expressed as frequency and percentage while quantitative data were expressed as mean, ± SEM and median. One-way ANOVA was used to test for mean Hb level, RBC count, MCV level, MCH level, and RDW level differences among six groups of heterozygous Hb E with concurrent deletional alpha thalassaemia in this study. The ROC curve was used to determine the cut-off point for Hb E level. Eighty-nine samples of heterozygous Hb E were confirmed to have concurrent deletional α-thalassaemia. Heterozygous Hb E with heterozygous α3.7 gene deletion was the most common deletional α-thalassaemia observed in 56 samples (62.9%) and followed by heterozygous SEA gene deletion which were detected in 21 samples (23.6%). The haematological parameters showed there was a significant difference between groups. The cut-off point for Hb E level for predicting heterozygous Hb E with deletional α-thalassaemia from CE method was 24.7% (Table 1). The diagnostic performance for the cut-off point for Hb E level showed sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of 100% for all. This cut-off value can be used in assisting the selection of heterozygous Hb E individual to proceed with DNA analysis for α-thalassaemia.
Clinical demand for blood transfusion is endless, and patients are exposed to the risk of transfusion error at any point along the transfusion chain which lead to incorrect blood component transfused (IBCT) if the standard transfusion practices have not complied. This study aimed to determine the prevalence, sources, and causes of error among IBCT in Hospital USM. This retrospective study involved all packed red cell (PC) transfusion and reported IBCT in Transfusion Medicine Units, Hospital USM from January 2005 to December 2020. The recipient and transfusion data of IBCT were collected from the medical record and laboratory information system (MyTransfusi). A total of 193 697 PC transfusions were documented, and 14 IBCT were reported within 16 years of transfusion services. The incidence of IBCT was 1 in 13 836 of PC transfusion. Most of the IBCT contributed by ward error (64.3%). The major cause of error was patient miss identification (85.7%) either in patient sampling, blood component issuing and administration. Most ABO incompatibility IBCT (3 out of 5) end up with severe morbidity or mortality related to an acute haemolytic transfusion reaction. Most of the errors occurred in the wards. Patient misidentification is a major cause of IBCT, and it is preventable. Thus, preventive measures should emphasize on positive patient identification at every step of transfusion chain.
Autoimmune hemolyticanemia (AIHA) can be caused by a variety of etiologies. Approximately one-half of warm AIHAs are idiopathic, while the nonidiopathicetiologies include lymphoproliferative disorders, autoimmune disease, and infection-induced AIHA. AIHA may be frequently challenged by infectious complications, mainly as a result of immunosuppressive treatments administered. Here we reported an extraordinary case of Mycobacterium tuberculosis infection presented with high titer cold-agglutinin autoimmune hemolysis in an immunocompetent patient. Although being risk factors for mortality, infections are an underestimated issue in AIHA. No antecedent case of pulmonary tuberculosis associated with cold agglutinin disease has been reported from Malaysia. Bangladesh Journal of Medical Science Vol. 21 No. 03 July’22 Page: 754-757
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