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.

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.

Acute lymphoblastic leukaemia (ALL) is the most frequent childhood cancer. Children usually present with signs of bone marrow failure like recurrent or prolonged fever, pallor, lethargy, bleeding tendencies, bone pain and others. Occasionally they may present with sign of infiltration of leukaemic cells into other organs such as testicular and central nervous system, rarely to the periorbital or orbital region. Similarly in relapse cases, they typically presented either in bone marrow, central nervous system relapse or testicular but rarely orbital involvement.  Here we report the clinical case of a five-year-old boy who developed relapsed B-ALL, presented to us with unilateral right eye swelling without other clinical findings and absence of blast cells in the peripheral blood film as well as bone marrow aspirate specimen.

Neonatal leukaemia is a rare blood cancer occurring in baby less than 30 days of life is characterized by proliferation of white cells without known and obvious reasons. We report a case of a 7-day- old girl diagnosed with congenital leukaemia. At the time of presentation, she was evaluated as early neonatal sepsis. However, her laboratory investigations were consistent with B cell acute lymphoblastic leukaemia. Her cytogenetic analysis showed 46 XX trisomy 22, t(5,15) (p15,q15) and del 7 (q33,q35). She was managed with standard Interfant 06 protocol and had achieved marrow remission during the course of chemotherapy.  Our case highlights the differentiation between lymphocytic leukemoid reaction and lymphoblastic malignant cells and also congenital acute lymphoblastic leukaemia who had a good outcome from the chemotherapy.

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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