Publications by authors named "Norunaluwar Jalil"

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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The Global Globin Network (GGN) is a project-wide initiative of the Human Variome/Global Variome Project (HVP) focusing on haemoglobinopathies to build the capacity for genomic diagnosis, clinical services, and research in low- and middle-income countries. At present, there is no framework to evaluate the improvement of care, treatment, and prevention of thalassaemia and other haemoglobinopathies globally, despite thalassaemia being one of the most common monogenic diseases worldwide. Here, we propose a universally applicable system for evaluating and grouping countries based on qualitative indicators according to the quality of care, treatment, and prevention of haemoglobinopathies.

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Nondeletional α-globin mutations are known to cause more serious clinical effects than deletional ones. A rare IVS-I-1 (G>A) (HBA2: c.95+1G>A) donor splice site mutation interferes with normal splicing of pre mRNA and results in activation of a cryptic splice site as well as a frameshift mutation.

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Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is the commonest cause of neonatal jaundice in Malaysia. Recently, OSMMR2000-D G6PD Assay Kit has been introduced to quantitate the level of G6PD activity in newborns delivered in Universiti Kebangsaan Malaysia Medical Centre (UKMMC). As duration of sample storage prior to analysis is one of the matters of concern, this study was conducted to identify the stability of G6PD enzyme during storage.

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