2.Potential use of cord blood for Hb E hemoglobinopathy screening programme using capillary electrophoresis
Wan Asmuni Wan Mohd Saman ; Rosline Hassan ; Shafini Mohd Yusoff ; Che Anuar Che Yaakob ; Nurul Ain Fathma Abdullah ; Selamah Ghazali ; Muhammad Amiro Rasheeq Mohd Radzi ; Rosnah Bahar
The Malaysian Journal of Pathology 2016;38(3):235-239
Background: Thalassemia and hemoglobinopathies are inherited red blood cell disorders found
worldwide. Hemoglobin (Hb) E disorder is one of the hemoglobinopathies known to have the high
prevalence in South East Asia. Most of transfusion-dependent thalassemias were genotypically
compound heterozygous Hb E/ β-thalassemia. In Malaysia, the national screening program for
thalassemia was implemented for early pregnancy or secondary school girls; however many participants
do not turn-up and missed the screening test. Screening for thalassemia using samples from cord
blood is an alternative choice as it is a readily available source of blood and hence early detection
of the disease. The purpose of this study was to determine the potential use of cord blood for the
screening of HbE hemoglobinopathy by using capillary electrophoresis (CE). Methods: Cord blood
samples were collected from 300 newborns of healthy mothers. Hematological parameters were
determined and hemoglobin quantitation for all cord blood samples were performed using capillary
electrophoresis system (CES) and high performance liquid chromatography (HPLC). Results: Majority
of cord blood samples (63%) revealed Hb AF followed by Hb AFA2
(20%). Hb AFE was detected
in 10.7% with the mean value of Hb E ranging from 2.3%-11.1%. Conclusion: Hemoglobin E was
detected in cord blood using capillary electrophoresis system. It can be recommended in areas where
Hb E/β is prevalent. Implementation of a screening strategy using CE on cord blood sampling will
identify the disease early. With regular follow-up on these patients, the status of their disease can
be determined earlier and appropriate management implemented.
3.Commemorating the 40-Year Journey of the School of Medical Sciences, Universiti Sains Malaysia
Shaiful Bahari Ismail ; Rosline Hassan ; Kamarul Aryffin Baharuddin ; Abdul Razak Sulaiman ; Kamaruddin Jaalam ; Wan Hazabbah Wan Hitam ; Wan Zalawati Mohd Noor ; Wan Nur Fajrina Wan Azmi ; Noraida Yusoff ; Muzaimi Mustapha
Malaysian Journal of Medical Sciences 2019;26(2):1-7
The School of Medical Sciences of Universiti Sains Malaysia (USM) is the launching pad
for this journal. From the school’s humble beginning at the USM Main Campus in Pulau Pinang,
Malaysia, it has grown in stature at its current location in the USM Health Campus, Kubang Kerian,
Kelantan, Malaysia. Commemorating its 40th anniversary, this editorial aims to recollect, although
not exhaustively, the wealth of returns for the USM, as well as for the nation, which the school
has managed to deliver in that period. Resolute to its vision and mission, this article highlights
the outstanding accomplishments in various core aspects of the school’s academic, research and
professional growth as we continually strive to train globally competitive and compassionate
medical graduates, medical specialists and scientists, skilled to serve nation’s needs and broader
markets worldwide. Currently guided by the Malaysian Higher Education Blueprint (2015–2025),
the school shall remain ingenious in its duties in the many more years to come, as we head for a
world-class trajectory.
4.Application of HRM Analysis in Detection of PDGFRA Exon 10 Polymorphism in CML Patients with Imatinib Resistance
Nur Sabrina Abd Rashid ; Sarina Sulong ; Azlan Husin ; Rosline Hassan ; Mohamad Ros Sidek ; Nazihah Mohd Yunus
Malaysian Journal of Medicine and Health Sciences 2022;18(No.5):130-137
Introduction: Imatinib mesylate has been widely used as a standard treatment for chronic myeloid leukemia (CML).
It acts as a selective competitive inhibitor of the BCR-ABL tyrosine kinase. Despite the excellent efficacy on CML
treatment, some patients developed resistance to the treatment. Mutation in the PDGFRA may be one of the factors
involved in the mechanism of resistance that affects the response to imatinib. The mutational status of PDGFRA is
highly relevant for prognosis and treatment prediction in CML patients. Thus, this study is intended to establish and
validate a High Resolution Melting (HRM) analysis for PDGFRA exon 10 c.1432 T>C polymorphism in CML patients.
Methods: High resolution melting (HRM) analysis was used to identify the c.1432 T > C polymorphism in PDGFRA
exon 10 (n =86; response = 43; resistance = 43). The results from HRM analysis were compared and validated with
Sanger sequencing. The association between the polymorphism and treatment response was assessed by statistical
analysis using binomial logistic regression analysis. Results: HRM analyses showed two different melt curves. One
curve followed the shape of the reference, homozygous wild type (TT) and the other curve showed a different melting profile than the reference with the TC genotype (heterozygous variant). The results revealed that heterozygous
variant (TC) genotype showed a high risk of acquiring resistance with an OR of 3.795; 95% CI: 1.502-9.591, with
a statistically significant association, p = 0.005. HRM analysis also showed 100% sensitivity and specificity in the
detection of PDGFRA exon 10. Conclusion: The HRM analysis of PDGFRA exon 10 c.1432 T>C was successfully
established. The exon 10 c.1432 T>C polymorphism shows a higher risk for the development of resistance toward
imatinib treatment.