Displaying publications 1 - 20 of 32 in total

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  1. Sarmukh S, Putera MP, Tan KL, Chew LG
    Urol Case Rep, 2021 Mar;35:101515.
    PMID: 33318942 DOI: 10.1016/j.eucr.2020.101515
    Renal artery pseudoaneurysm (RAP) is an uncommon vascular lesion. Early detection and treatment of renal artery pseudoaneurysm is important because it can rupture and lead to life-threatening hemorrhage. Recent advances in endovascular interventions can prevent potentially challenging open surgery. We describe a case 66 year old patient who presented with a painful abdominal lumbar mass. CT scan show a giant renal artery pseudoaneurysm. We discuss management of giant renal artery pseudoaneurysm, both open surgery and endovascular surgery. Endovascular arterial embolization and stent techniques is feasible. However, open surgical treatment remains to be most effective and radical method in emergency setting.
  2. Aslannif R, Suraya K, Koh HB, Tey YS, Tan KL, Tham CH, et al.
    Med J Malaysia, 2019 12;74(6):521-526.
    PMID: 31929479
    INTRODUCTION: Apical Hypertrophic Cardiomyopathy (Apical HCM) is an uncommon variant of hypertrophic cardiomyopathy, but it is relatively more common in Asian countries. This is a retrospective, non-randomised, single centre study of patients with Apical HCM focusing on their diastolic dysfunction grading, echocardiographic parameters and electrocardiograms (ECG).

    METHODS: All Apical HCM patients coming for clinic visits at the Institut Jantung Negara from September 2017 to September 2018 were included. We assessed their echocardiography images, grade their diastolic function and reviewed their ECG on presentation.

    RESULTS: Fifty patient were included, 82% (n=41) were males and 18% (n=9) females. The diastolic function grading of 37 (74%) patients were able to be determined using the updated 2016 American Society of Echocardiography (ASE) diastolic guidelines. Fifty percent (n=25) had the typical ace-ofspades shape left ventricle (LV) appearance in diastole and 12% (n=6) had apical pouch. All patients had T inversion in the anterior leads of their ECG, and only 52% (n=26) fulfilled the ECG left ventricular hypertrophy (LVH) criteria. Majority of our patients presented with symptoms of chest pain (52%, n=26) and dyspnoea (42%, n=21).

    CONCLUSION: The updated 2016 ASE guideline makes it easier to evaluate LV diastolic function in most patients with Apical HCM. It also helps in elucidating the aetiology of dyspnoea, based on left atrial pressure. Clinicians should have a high index of suspicion for Apical HCM when faced with deep T inversion on ECG, in addition to a thick LV apex with an aceof- spades appearance during diastole.

  3. Tan KL
    Med J Malaysia, 2019 Oct;74(5):389-393.
    PMID: 31649214
    BACKGROUND: Physical inactivity remains the most important modifiable risk factor in preventing a variety of noncommunicable diseases (NCDs) and has been identified to be a risk factor for obesity, heart disease and cancers. This study examined the prevalence and factors associated with physical inactivity among the suburban adult population in Port Dickson district, Negeri Sembilan, Peninsular Malaysia.
    MATERIAL AND METHODS: This was a community based cross-sectional study involving 397 adult respondents conducted in February 2016. Data was collected by face-to-face interview using a structured questionnaire. Data regarding socio-demographic factors (age, gender, ethnicity, education level, marital status and monthly income, working hours), current behavioural stage of physical activity and perceived benefits and barriers to physical activity were collected. Physical activity measured using the International Physical Activity Questionnaire (IPAQ) with the cut-off point of less than 600 met-min per week was considered to be physically inactive.
    RESULTS: The prevalence of physical inactivity among adult population was 36.3%. Factors significantly associated with physical inactivity included age, gender, marital status, working hours and current behavioural stage of physical activity.
    CONCLUSION: Physical inactivity is high among the adult community in Negeri Sembilan district, Peninsular Malaysia and was strongly associated with age, gender, marital status, working hours and current behavioural stage of physical activity. It is important to identify individuals with physical inactivity and its associated factors early as this could severely affect the quality of life of the individuals.
    Study site: Six housing areas in Port Dickson District, Negeri Sembilan, Malaysia
  4. Talal M, Zaidan AA, Zaidan BB, Albahri AS, Alamoodi AH, Albahri OS, et al.
    J Med Syst, 2019 Jan 15;43(3):42.
    PMID: 30648217 DOI: 10.1007/s10916-019-1158-z
    The Internet of Things (IoT) has been identified in various applications across different domains, such as in the healthcare sector. IoT has also been recognised for its revolution in reshaping modern healthcare with aspiring wide range prospects, including economical, technological and social. This study aims to establish IoT-based smart home security solutions for real-time health monitoring technologies in telemedicine architecture. A multilayer taxonomy is driven and conducted in this study. In the first layer, a comprehensive analysis on telemedicine, which focuses on the client and server sides, shows that other studies associated with IoT-based smart home applications have several limitations that remain unaddressed. Particularly, remote patient monitoring in healthcare applications presents various facilities and benefits by adopting IoT-based smart home technologies without compromising the security requirements and potentially large number of risks. An extensive search is conducted to identify articles that handle these issues, related applications are comprehensively reviewed and a coherent taxonomy for these articles is established. A total number of (n = 3064) are gathered between 2007 and 2017 for most reliable databases, such as ScienceDirect, Web of Science and Institute of Electrical and Electronic Engineer Xplore databases. Then, the articles based on IoT studies that are associated with telemedicine applications are filtered. Nine articles are selected and classified into two categories. The first category, which accounts for 22.22% (n = 2/9), includes surveys on telemedicine articles and their applications. The second category, which accounts for 77.78% (n = 7/9), includes articles on the client and server sides of telemedicine architecture. The collected studies reveal the essential requirement in constructing another taxonomy layer and review IoT-based smart home security studies. Therefore, IoT-based smart home security features are introduced and analysed in the second layer. The security of smart home design based on IoT applications is an aspect that represents a crucial matter for general occupants of smart homes, in which studies are required to provide a better solution with patient security, privacy protection and security of users' entities from being stolen or compromised. Innovative technologies have dispersed limitations related to this matter. The existing gaps and trends in this area should be investigated to provide valuable visions for technical environments and researchers. Thus, 67 articles are obtained in the second layer of our taxonomy and are classified into six categories. In the first category, 25.37% (n = 17/67) of the articles focus on architecture design. In the second category, 17.91% (n = 12/67) includes security analysis articles that investigate the research status in the security area of IoT-based smart home applications. In the third category, 10.44% (n = 7/67) includes articles about security schemes. In the fourth category, 17.91% (n = 12/67) comprises security examination. In the fifth category, 13.43% (n = 9/67) analyses security protocols. In the final category, 14.92% (n = 10/67) analyses the security framework. Then, the identified basic characteristics of this emerging field are presented and provided in the following aspects. Open challenges experienced on the development of IoT-based smart home security are addressed to be adopted fully in telemedicine applications. Then, the requirements are provided to increase researcher's interest in this study area. On this basis, a number of recommendations for different parties are described to provide insights on the next steps that should be considered to enhance the security of smart homes based on IoT. A map matching for both taxonomies is developed in this study to determine the novel risks and benefits of IoT-based smart home security for real-time remote health monitoring within client and server sides in telemedicine applications.
  5. Ooi, Yin Yin, Soyza, R. M., Low, Z. X., Tan, K. L.
    MyJurnal
    Introduction: Neurodegenerative diseases such as Alzheimer’s disease (AD) and Parkinson’s disease (PD) have become increasingly prevalent in recent years. Microglia, the resident myeloid cells of the Central Nervous System (CNS) are primarily responsible for the production of inflammatory mediators that accumulate and become toxic during a chronic inflammatory response. The accumulation of inflammatory mediators over time inadvertently contributes to the functional impairment of surrounding neurons. Hence, suppressing microglial cell activation can be a solution to control the progress of neurodegenerative disorders. Symptomatic treatments are available, but no curative treatment is currently available, and some are linked to several side effects associated with their use. Honey is a natural product derived from the nectar harvested and modified by honeybees. Its therapeutic effects are widely documented, have been tested and verified extensively in literature. Honey is recognized in modern medicine for its varied pharmacological activities. While the medicinal properties of honeys such as Manuka honey are well established, further investigation is required to elucidate the medicinal properties of locally sourced honeys, namely Tualang (TH) and Kelulut (KH) honeys. In this study, we investigated the immunomodulatory effects of local TH and KH honey on microglial cell activities. Methods: BV2 cells, an immortalized microglial cell line was used in this in vitro study to assess the cell survival when treated with the TH and KH honey. Expression of CD40, CD11b and CD86 were measured using flowcytometry. Results: BV2 cells incubated with TH at concentrations of 0.1% and 0.5%, and KH at concentrations of 0.1% and 0.25% for 24 and 48 hours showed cell survivability above 75%. Both TH and KH decreased ROS production significantly on LPS-induced BV2 cells, but increased ROS production on unstimulated BV2 cells. Additionally, the expression levels of CD40, CD11b and CD86 were also reduced on honey- treated LPS-induced BV2 cells. Conclusion: These results have demonstrated that both TH and KH are capable of suppressing microglial activation. Therefore, we propose the idea of utilizing these honeys as a complementary treatment to suppress the progression of neurodegenerative diseases.
  6. Roslan A, Kamsani SH, Nay TW, Tan KL, Hakim N, Tan AM, et al.
    Med J Malaysia, 2018 12;73(6):388-392.
    PMID: 30647209
    OBJECTIVE: Cardiac amyloidosis is under diagnosed and its prevalence is unknown. This is a retrospective, nonrandomised, single centre study of patients with endomyocardial biopsy-proven cardiac amyloidosis focusing on their echocardiographic and electrocardiogram (ECG) presentations. This is the first case series in Malaysia on this subject.

    METHODS: We identified all of our endomyocardial biopsyproven cardiac amyloidosis patients from January 2010 to January 2018 and reviewed their medical records. All patients echocardiographic and ECG findings reviewed and analysed comparing to basic mean population value.

    RESULTS: In total there are 13 biopsy-proven cardiac amyloidosis patients. All of the biopsies shows light chain (AL) amyloid. Majority of the patients (8, 61.5%) is male, and most of our patients (8, 61.5%) is Chinese. All seven patients on whom we performed deformation imaging have apical sparing pattern on longitudinal strain echocardiogram. Mean ejection fraction is 49.3%, (SD=7.9). All patients have concentric left ventricular hypertrophy and right ventricular hypertrophy. Diastolic dysfunction was present in all of our patients with nine out of 13 patients (69.2%) having restrictive filling patterns (E/A ≥2.0 E/e' ≥15). On electrocardiogram, 12 (92%) patients have prolonged PR interval (median 200ms, IQR 76.50ms) and 9 (69.2%) patients have pseudoinfarct pattern.

    CONCLUSION: Echocardiography plays an important role in diagnosing cardiac amyloidosis. The findings of concentric left ventricular hypertrophy with preserved ejection fraction without increased in loading condition should alert the clinician towards its possibility. This is further supported by right ventricular hypertrophy and particularly longitudinal strain imaging showing apical sparing pattern.

  7. Sabrina B, Tan KL, Johann FK, Andre D
    Med J Malaysia, 2018 08;73(4):255-256.
    PMID: 30121691 MyJurnal
    Ureteric and bladder injuries are uncommon, difficult to diagnose and rarely occur in isolation. Diagnosis is often delayed or missed at presentation. Therefore, high clinical suspicion and appropriate timing of computed tomography (CT) are of paramount importance. We report two cases (ureteropelvic junction avulsion and ruptured dome of bladder) whereby the presentations were subtle and would have been missed if not for high clinical suspicion. This article discusses the problems associated with these urologic injuries, as well as how to develop a high index of suspicion based on the pattern of anatomical disruption, mechanism of injury, physiological abnormality and comorbidity.
  8. Leong BDK, Govindarajanthran N, Hafizan TM, Tan KL, Hanif H, Zainal AA
    Med J Malaysia, 2017 04;72(2):91-93.
    PMID: 28473670 MyJurnal
    INTRODUCTION: There has been a paradigm shift in the treatment of AAA with the advent of endovascular aneurysm repair (EVAR). Rapid progress and evolution of endovascular technology has brought forth smaller profile devices and closure devices. Total percutaneous endovascular aneurysm repair (pEVAR) involves the usage of suture-mediated closure devices (SMCDs) at vascular access sites to avoid a traditional surgical cutdown.

    MATERIALS AND METHODS: We retrospectively reviewed our experience of pEVAR between April 2013 and July 2014. Primary success of the procedure was defined as closure of a common femoral artery (CFA) arteriotomy without the need for any secondary surgical or endovascular procedure within 30 days.

    RESULTS: In total there were 10 pEVAR cases performed in the study period, one case in Queen Elizabeth Hospital during visiting vascular service. Patients have a mean age of 73.4 year old (66-77 year old) The mean abdominal aortic size was 7.2 cm (5.6-10.0cm). Mean femoral artery diameter was 9.0 mm on the right and 8.9 mm on the left. Mean duration of surgery was 119 minutes (98- 153 minutes). 50% of patients were discharged at post-operative day one, 30%- day two and 20%- day three. Primary success was achieved in 9 patients (90%) or in 19 CFA closures (95%). No major complication was reported.

    DISCUSSION: We believe that with proper selection of patients undergoing EVAR, pEVAR offers a better option of vascular access with shorter operative time, less post- operative pain, shorter hospital stay and minimises the potential complications of a conventional femoral cutdown.

  9. Tan KL, Chong AW, Amin MA, Raman R
    J Laryngol Otol, 2012 Jul;126(7):751-5.
    PMID: 22578299 DOI: 10.1017/S0022215112000795
    To illustrate a case of an iatrogenic mucosal tear in the trachea which caused a one-way valve effect, obstructing the airway and manifesting as post-extubation stridor.
  10. Hamizah S, Roslida AH, Fezah O, Tan KL, Tor YS, Tan CI
    Asian Pac J Cancer Prev, 2012;13(6):2533-9.
    PMID: 22938417
    Annona muricata L (Annonaceae), commonly known as soursop has a long, rich history in herbal medicine with a lengthy recorded indigenous use. It had also been found to be a promising new anti-tumor agent in numerous in vitro studies. The present investigation concerns chemopreventive effects in a two-stage model of skin papillomagenesis. Chemopreventive effects of an ethanolic extract of A. muricata leaves (AMLE) was evaluated in 6-7 week old ICR mice given a single topical application of 7,12-dimethylbenza(α)anthracene (DMBA 100 μg/100 μl acetone) and promotion by repeated application of croton oil (1% in acetone/ twice a week) for 10 weeks. Morphological tumor incidence, burden and volume were measured, with histological evaluation of skin tissue. Topical application of AMLE at 30, 100 and 300 mg/kg significantly reduced DMBA/croton oil induced mice skin papillomagenesis in (i) peri-initiation protocol (AMLE from 7 days prior to 7 days after DMBA), (ii) promotion protocol (AMLE 30 minutes after croton oil), or (iii) both peri-initiation and promotion protocol (AMLE 7 days prior to 7 day after DMBA and AMLE 30 minutes after croton oil throughout the experimental period), in a dose dependent manner (p<0.05) as compared to carcinogen-treated control. Furthermore, the average latent period was significantly increased in the AMLE-treated group. Interestingly, At 100 and 300 mg/ kg, AMLE completely inhibited the tumor development in all stages. Histopathological study revealed that tumor growth from the AMLE-treated groups showed only slight hyperplasia and absence of keratin pearls and rete ridges. The results, thus suggest that the A.muricata leaves extract was able to suppress tumor initiation as well as tumor promotion even at lower dosage.
  11. Tan KL, Harvinder S
    Med J Malaysia, 2010 Jun;65(2):101-2.
    PMID: 23756790 MyJurnal
    Onodi cell is a posterior ethmoid air cell that pneumatizes into the sphenoid sinus, It is an important entity for clinicians when performing endoscopic sinus surgery (EES) because it encroaches into the optic nerve and internal carotid artery. CT-scans are the road map for ESS to prevent damage to structures mentioned above. Its prevalence in Malaysia is unknown.
  12. Tan KL
    Malays J Nutr, 2009 Mar;15(1):11-8.
    PMID: 22691800 MyJurnal
    This is a cross-sectional study which investigated the association between non-exclusive breastfeeding and maternal, paternal, obstetric and infant factors. Data on maternal, paternal, obstetric and infant factors were collected through face-to-face interview using a structured questionnaire from 498 mothers with four-week-old infants who attended government clinics in Klang district between 17 and 28 July 2006. The prevalence of non-exclusive breastfeeding at four weeks was 45.8%. Factors significantly associated with non-exclusive breastfeeding at four weeks included Indian ethnic mother (OR = 4.06), working mother (OR = 3.55), mother from high household income (OR = 1.90), mother who smokes (OR = 7.27), primiparous (OR = 1.97), infant not sharing a bed with mother (OR = 1.75) and infant born prematurely (OR = 7.69). Identification of risk factors should assist in targeting women who are at increased risk of non-exclusive breastfeeding.
  13. Tan KL, Yadav H
    Med J Malaysia, 2008 Aug;63(3):199-202.
    PMID: 19248689 MyJurnal
    This is a cross-sectional study investigating the profile of children with disability registered with the primary health care clinics in Malaysia. The purpose of the study was to assess the developmental stage of children with disability. Secondary data from the pilot project conducted by the Family Health Development Division, Ministry of Health Malaysia was used in this study. The study period was for six months from 1st August 2004 until 31st January 2005. A total of 900 disabled children were selected in this study. Schedule of Growing Scale (SGS) II was used for analysis. Results showed more boys than girls were affected with a ratio of 6:4. The mean total SGS score increases as the age of the child increased. The score was highest in delayed speech cases and lowest in cerebral palsy cases. The performance among children with delayed speech was the highest while children with cerebral palsy were the lowest. There was a statistically significant difference between the major ethnic groups in delayed speech and attention deficit hyperactive disorder.
    Questionnaire: Denver Developmental Assessment Test II chart; DSST; Schedule of Growing Scale II; SGS
  14. Tan KL, Yadav H
    Med J Malaysia, 2008 Mar;63(1):17-20.
    PMID: 18935725 MyJurnal
    This is a cohort study investigating the profile of children with disability registered with the primary health care clinics in Malaysia. The purpose of the study was to determine whether reassessment on the development of children with disability under rehabilitation should be done at three months interval or six months interval. Secondary data from the pilot project conducted by the Family Health Development Division, Ministry of Health Malaysia was used in this study. The study was carried out for seven months from 1st August 2004 until 28th February 2005. A total of 168 disabled children followed up for six months were selected in this study. Schedule of Growing Scale (SGS) II was the tool used for analysis. Results showed a statistically significant difference in the mean total SGS score at six months interval but not at three months interval. The result suggests that reassessment on children with Down Syndrome, Autism, Cerebral Palsy, mental retardation and delayed speech under rehabilitation should be carried out every six months while children with gross developmental delay and slow learner might need a longer interval for reassessment.
  15. Wee YC, Tan KL, Kuldip K, Tai KS, George E, Tan PC, et al.
    Community Genet, 2008;11(3):129-34.
    PMID: 18376108 DOI: 10.1159/000113874
    BACKGROUND/AIMS: Individuals with double heterozygosity for alpha- and beta-thalassaemia and heterozygous beta-thalassaemia show a similar haematological picture. Co-inheritance of alpha- and beta-thalassaemia in both partners may result in pregnancies with either Hb Bart's hydrops foetalis or beta-thalassaemia major, or pregnancies with both disorders.
    METHODS: The co-inheritance of alpha-thalassaemia in 322 beta-thalassaemia carriers in Malaysia was studied.
    RESULTS: The frequency of alpha-thalassaemia in the beta-thalassaemia carriers was 12.7% (41/322), with a carrier frequency of 7.8% for the SEA deletion, 3.7% for the -alpha(3.7) deletion, 0.9% for Hb Constant Spring and 0.3% for the -alpha(4.2) deletion.
    CONCLUSION: Double heterozygosity for alpha- and beta-thalassaemia was confirmed in 5 out of the 41 couples and the risk of the fatal condition Hb Bart's hydrops foetalis was confirmed in two of these couples. Detection of the Southeast Asian (SEA) deletion in the Malaysian Malays in this study confirms that Hb Bart's hydrops foetalis can occur in this ethnic group. Results of this study have provided new information on the frequency and different types of alpha-thalassaemia (--(SEA), -alpha(3.7) and -alpha(4.2) deletions, Hb Constant Spring) in Malaysian beta-thalassaemia carriers.
  16. Tan, J. A. M. A., George, E., Lim, E. J., Zakaria, Z., Hassan, R., Wee, Y. C., et al.
    MyJurnal
    Objectives: This study aimed to evaluate the UBI MAGIWELTM ζ-GLOBIN ELISA Kit for the presumptive diagnosis of αo-thalassaemia. The ELISA results obtained were confirmed by molecular characterisation of αo-thalassaemia using a Duplex-PCR. Methods: Routine peripheral blood counts and red cell indices were determined in 94 blood samples sent for Hb analysis. Hb subtypes were quantified by high performance liquid chromatography (HPLC) and Hb electrophoresis conducted on agarose gel at pH 8.5. Zeta-globin chain levels were determined using the UBI MAGIWELTM ζ-GLOBIN ELISA Kit. Molecular analysis was performed using a duplex-PCR which simultaneously amplifies
    a normal 136 bp sequence between the ψα−α2-globin genes and a 730 bp Southeast Asian deletion-specific sequence (–SEA) between the ψα2−θ1-globin genes. Results: Using the ELISA assay kit, 20 blood samples were presumptively identified as α-thalassaemia carriers from elevated ζ-globin chains (OD>0.3) while the remaining 74 blood samples showed OD
  17. Thong MK, Tan JA, Tan KL, Yap SF
    J Trop Pediatr, 2005 Dec;51(6):328-33.
    PMID: 15967770 DOI: 10.1093/tropej/fmi052
    beta-thalassaemia major, an autosomal recessive hemoglobinopathy, is one of the most common single gene disorders in multi-racial Malaysia. The control of beta-thalassaemia major requires a multi-disciplinary approach that includes population screening, genetic counselling, prenatal diagnosis and the option of termination of affected pregnancies. To achieve this objective, the molecular characterisation of the spectrum of beta-globin gene mutations in each of the affected ethnic groups is required. We studied 88 consecutive unrelated individuals and their respective families with beta-thalassaemia (74 beta-thalassaemia major, 12 HbE-beta-thalassaemia, 2 with HbE homozygotes) and four individuals with beta-thalassaemia trait that contributed a total 180 alleles for study. Using a 2-step molecular diagnostic strategy consisting of amplification refractory mutation system (ARMS) to identify the 8 most common mutations followed by other DNA-based diagnostic techniques, a total of 177 (98.3 per cent) of the 180 beta-thalassaemia alleles were characterised. One out of 91 (1 per cent) of the Chinese alleles, one out of 46 (2.2 per cent) Malay alleles and one out of two Indian alleles remained unknown. A 100 per cent success rate was achieved in studying the Kadazandusun community in this study. A strategy to identify beta-globin gene mutations in Malaysians with beta-thalassaemia is proposed based on this outcome.
  18. Wee YC, Tan KL, Tan PC, Yap SF, Tan JAMA
    Med J Malaysia, 2005 Oct;60(4):447-53.
    PMID: 16570706
    Haemoglobin Bart's hydrops foetalis syndrome (--SEA/--SEA) is not compatible with life and contributes to a majority of the hydropic foetuses in the Malaysian Chinese alpha-thalassaemia carriers who possess the 2-alpha-gene deletion in cis (--SEA/alphaalpha). A duplex-PCR which simultaneously amplifies a normal 136 bp sequence between the psialpha-alpha2-globin genes and a 730 bp Southeast Asian deletion-specific sequence (--SEA) between the psialpha2-theta1-globin genes was established. The duplex-PCR which detects the --SEA deletion in both chromosomes serves as a rapid and cost-effective confirmatory test in the antenatal diagnosis of Haemoglobin Bart's hydrops foetalis syndrome in Malaysia. In addition, the duplex-PCR is simple to perform as both the normal and deletion-specific alpha-globin gene sequences are amplified in the same PCR reaction.
  19. Tan JA, George E, Tan KL, Chow T, Tan PC, Hassan J, et al.
    Clin Exp Med, 2004 Dec;4(3):142-7.
    PMID: 15599663 DOI: 10.1007/s10238-004-0048-x
    Beta-thalassemia is the most-common genetic disorder of hemoglobin synthesis in Malaysia, and about 4.5% of the population are heterozygous carriers of the disorder. Prenatal diagnosis was performed for 96 couples using the Amplification Refractory Mutation System and Gap-Polymerase Chain Reaction. We identified 17 beta-globin defects-initiation codon for translation (T-G), -29 (A-G), -28 (A-G), CAP +1 (A-C), CD 8/9 (+G), CD 15 (G-A), CD 17 (A-T), CD 19 (A-G), Hb E (G-A), IVS1-1 (G-T), IVS1-5 (G-C), CD 41/42 (-CTTT), CD 71-72 (+A), IVS2-654 (CT), poly A(A-G), 100-kb Ggamma(Agammadeltabeta) degrees and 45-kb Filipino deletions. The 192 beta-alleles studied comprised Chinese (151 patients), Malay (21), Orang Asli from East Malaysia (15), Filipino (1), Indian (1), Indonesian Chinese (2), and Thai (1). In the Chinese, 2 beta-globin defects at CD 41/42 and IVS2-654 were responsible for 74% of beta-thalassemia. beta-mutations at CD 19, IVS1-1 (G-T), IVS1-5, poly A, and hemoglobin E caused 76% of the hemoglobin disorders in the Malays. The Filipino 45-kb deletion caused 73.3% of bthalassemia in the Orang Asli. Using genomic sequencing, the rare Chinese beta-mutation at CD 43 (G-T) was confirmed in 2 Chinese, and the Mediterranean mutation IVS1-1 (G-A) was observed in a Malay beta-thalassemia carrier. The beta-globin mutations confirmed in this prenatal diagnosis study were heterogenous and 65 (68%) couples showed a different globin defect from each other. The use of specific molecular protocols has allowed rapid and successful prenatal diagnosis of beta-thalassemia in Malaysia.
  20. Tan KL, Tan JA, Wong YC, Wee YC, Thong MK, Yap SF
    Genet. Test., 2001;5(1):17-22.
    PMID: 11336396 DOI: 10.1089/109065701750168626
    Beta-thalassemia major patients have chronic anemia and are dependent on blood transfusions to sustain life. Molecular characterization and prenatal diagnosis of beta3-thalassemia is essential in Malaysia because about 4.5% of the population are heterozygous carriers for beta-thalassemia. The high percentage of compound heterozygosity (47.62%) found in beta-thalassemia major patients in the Thalassaemia Registry, University of Malaya Medical Centre (UMMC), Malaysia, also supports a need for rapid, economical, and sensitive protocols for the detection of beta-thalassemia mutations. Molecular characterization of beta-thalassemia mutations in Malaysia is currently carried out using ARMS, which detects a single beta-thalassemia mutation per PCR reaction. We developed and evaluated Combine amplification refractory mutation system (C-ARMS) techniques for efficient molecular detection of two to three beta-thalassemia mutations in a single PCR reaction. Three C-ARMS protocols were evaluated and established for molecular characterization of common beta-thalassemia mutations in the Malay and Chinese ethnic groups in Malaysia. Two C-ARMS protocols (cd 41-42/IVSII #654 and -29/cd 71-72) detected the beta-thalassemia mutations in 74.98% of the Chinese patients studied. The CARMS for cd 41-42/IVSII #654 detected beta-thalassemia mutations in 72% of the Chinese families. C-ARMS for cd 41-42/IVSI #5/cd 17 allowed detection of beta-thalassemia mutations in 36.53% of beta-thalassemia in the Malay patients. C-ARMS for cd 41-42/IVSI #5/cd 17 detected beta-thalassemia in 45.54% of the Chinese patients. We conclude that C-ARMS with the ability to detect two to three mutations in a single reaction provides more rapid and cost-effective protocols for beta-thalassemia prenatal diagnosis and molecular analysis programs in Malaysia.
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