Publications by authors named "E Esa"

Introduction: The emergence of mutations in the BCR::ABL1 kinase domain (KD) impairs imatinib mesylate (IM) binding capacity, thus contributing to IM resistance. Identification of these mutations is important for treatment decisions and precision medicine in chronic myeloid leukaemia (CML) patients. Our study aims to determine the frequency of BCR::ABL1 KD mutations in CML patients with IM resistance.

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Article Synopsis
  • Hemoglobin (Hb) Malay is a common genetic disorder in Malaysia caused by a specific mutation, making it difficult to detect using standard laboratory techniques like capillary electrophoresis and high-performance liquid chromatography.
  • This study analyzed samples from 521 patients suspected of having β thalassemia over five years, successfully identifying 54 cases of Hb Malay with notable differences in blood parameters compared to typical β thalassemia carriers.
  • The researchers recommend a new cutoff value for hemoglobin A (HbA) of ≤4.6% to help confirm Hb Malay carrier status, noting that those with Hb Malay may have a different clinical presentation than classical β° thalassemia carriers.
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Thalassemia is one of the most prevalent monogenic disorders in low- and middle-income countries (LMICs). There are an estimated 270 million carriers of hemoglobinopathies (abnormal hemoglobins and/or thalassemia) worldwide, necessitating global methods and solutions for effective and optimal therapy. LMICs are disproportionately impacted by thalassemia, and due to disparities in genomics awareness and diagnostic resources, certain LMICs lag behind high-income countries (HICs).

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Introduction: Haemoglobin (Hb) Quong Sze is a non-deletional α-thalassaemia subtype that occurs due to missense mutation at codon 125 of the HBA2 gene. Interaction between Hb QS with Southeast Asian double α-globin gene deletion results in non-deletional HbH disease, which is more severe than deletional HbH.

Case Report: A 3-month-old baby boy was presented with neonatal anaemia and mild hepatomegaly.

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Article Synopsis
  • The study focuses on four individuals in Malaysia with a rare genetic combination of hemoglobin variants known as Hb G-Makassar and Hb E.
  • All cases were discovered incidentally through routine screening methods, and while some had a history of unrelated anemia, others showed no symptoms at all.
  • The findings underscore the importance of further research into the clinical implications and prevalence of rare hemoglobin variants in diverse populations.
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