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  1. Fulltext First reported case of Haemoglobin-M Hyde Park in a Malay family living in Malaysia
    Loong TY, Chong DL, Jamal AR, Murad NA, Sabudin RZ, Fun LC
    EXCLI J, 2016;15:630-635.
    PMID: 28096792 DOI: 10.17179/excli2016-613
    Haemoglobin (Hb)-M Hyde Park, also known as Hb-M Akita is a rare type of hereditary Hb M due to autosomal dominant mutation of CAC>TAC on codon 92 of β globin gene resulting in the replacement of histidine by tyrosine on β globin chain. This variant Hb has a tendency to form methaemoglobin (metHb). The iron ion in metHb is oxidized to ferric (Fe3+) which is unable to carry oxygen and the patients manifest as cyanosis clinically. A 9-year-old Malay girl was incidentally found to be cyanotic when she presented to a health clinic. Laboratory investigations revealed raised methaemoglobin levels and Hb analysis findings were consistent with Hb-M Hyde Park. β gene sequencing confirmed a point mutation of CAC>TAC on codon 92 in one of the β genes. The family study done on the individuals with cyanosis showed similar findings. A diagnosis of heterozygous Hb-M Hyde Park was made. Patients with this variant Hb usually presented with cyanosis with mild haemolysis and maybe misdiagnosed as congenital heart disease. No further treatment is needed as patients are relatively asymptomatic. Although the disease is harmless in the heterozygous carriers but the offspring of the carriers may suffer severe haemolytic anaemia when the offspring also inherit other β haemoglobinopathies/thalassemia. This can happen due to high prevalence of β thalassemia carrier (3.5-4 %) found in Malaysia. At the time of writing, this is the first case of hereditary Hb-M Hyde Park diagnosed in a Malay family living in Malaysia.
    Matched MeSH terms: beta-Thalassemia
  2. Genetic polymorphisms of HbE/beta thalassemia related to clinical presentation: implications for clinical diversity
    Azman NF, Abdullah WZ, Hanafi S, Diana R, Bahar R, Johan MF, et al.
    Ann Hematol, 2020 Apr;99(4):729-735.
    PMID: 32078010 DOI: 10.1007/s00277-020-03927-5
    HbE/Beta thalassemia (HbE/β-thalassemia) is one of the common genetic disorders in South East Asia. It is heterogeneous in its clinical presentation and molecular defects. There are genetic modifiers which have been reported to influence the disease severity of this disorder. The aim of this study was to determine the genetic polymorphisms which were responsible for the disease clinical diversity. A case-control study was conducted among Malay transfusion-dependent HbE/β-thalassemia patients. Patients who were confirmed HbE/β-thalassemia were recruited and genotyping study was performed on these subjects. Ninety-eight patients were selected and divided into moderate and severe groups based on clinical parameters using Sripichai scoring system (based on hemoglobin level, spleen size, growth development, the age of first transfusion and age of disease presentation). Forty-three (44.9%) and 55 (56.1%) patients were found to have moderate and severe clinical presentation, respectively. Genotyping analysis was performed using Affymetrix 6.0 microarray platform. The SNPs were filtered using PLINK and Manhattan plot by R software. From the GWAS results, 20 most significant SNPs were selected based on disease severity when compared between moderate and severe groups. The significant SNPs found in this study were mostly related to thalassemia complications such as rs7372408, associated with KCNMB2-AS1 and SNPs associated with disease severity. These findings could be used as genetic predictors in managing patients with HbE/β-thalassemia and served as platform for future study.
    Matched MeSH terms: beta-Thalassemia
  3. Fulltext Predictive SNPs for β0-thalassemia/HbE disease severity
    Munkongdee T, Tongsima S, Ngamphiw C, Wangkumhang P, Peerapittayamongkol C, Hashim HB, et al.
    Sci Rep, 2021 05 14;11(1):10352.
    PMID: 33990643 DOI: 10.1038/s41598-021-89641-2
    β-Thalassemia/HbE disease has a wide spectrum of clinical phenotypes ranging from asymptomatic to dependent on regular blood transfusions. Ability to predict disease severity is helpful for clinical management and treatment decision making. A thalassemia severity score has been developed from Mediterranean β-thalassemia patients. However, different ethnic groups may have different allele frequency and linkage disequilibrium structures. Here, Thai β0-thalassemia/HbE disease genome-wild association studies (GWAS) data of 487 patients were analyzed by SNP interaction prioritization algorithm, interacting Loci (iLoci), to find predictive SNPs for disease severity. Three SNPs from two SNP interaction pairs associated with disease severity were identifies. The three-SNP disease severity risk score composed of rs766432 in BCL11A, rs9399137 in HBS1L-MYB and rs72872548 in HBE1 showed more than 85% specificity and 75% accuracy. The three-SNP predictive score was then validated in two independent cohorts of Thai and Malaysian β0-thalassemia/HbE patients with comparable specificity and accuracy. The SNP risk score could be used for prediction of clinical severity for Southeast Asia β0-thalassemia/HbE population.
    Matched MeSH terms: beta-Thalassemia/blood; beta-Thalassemia/diagnosis*; beta-Thalassemia/genetics
  4. Fulltext Attitudes towards prenatal diagnosis and abortion in a multi-ethnic country: a survey among parents of children with thalassaemia major in Malaysia
    Ngim CF, Lai NM, Ibrahim H, Ratnasingam V
    J Community Genet, 2013 Apr;4(2):215-21.
    PMID: 23296641 DOI: 10.1007/s12687-012-0133-x
    Thalassaemia is a public health problem in multi-ethnic Malaysia which mainly affects the Malays, Kadazan-Dusuns and Chinese. This study, the first in Malaysia, aims to evaluate the acceptability of prenatal diagnosis and abortion among Malaysian parents who have a child or children with thalassaemia major and the socio-demographic factors affecting their decision-making. A pre-structured questionnaire was distributed to parents of children with thalassaemia major. Response rate for completed surveys was 99.1 %. Out of 116 respondents, the majority (83/71.6 %) were agreeable for prenatal diagnosis, but only 33 (28.4 %) agreed to both prenatal diagnosis followed by termination of affected foetuses. Of parents who declined abortion, 77.6 % cited religious restriction as the main reason, and their religious background was a significant factor (p = 0.001), with 73.4 % of Muslim participants against termination compared to 25 % of Christians and 13.3 % of Buddhists. Gender, age, highest education level and number of children affected with thalassaemia were non-significant predictors in decision-making regarding abortion. The acceptance rate for termination of foetuses with thalassaemia major in Malaysia is low especially among the Muslims due to religious non-permissibility. Therefore, scholarly deliberations among the Malaysian Muslim religious authorities that result in a supportive stance in this issue may contribute to a more successful prevention programme.
    Matched MeSH terms: beta-Thalassemia
  5. Fulltext A holistic approach to education programs in thalassemia for a multi-ethnic population: consideration of perspectives, attitudes, and perceived needs
    Wong LP, George E, Tan JA
    J Community Genet, 2011 Jun;2(2):71-9.
    PMID: 22109791 DOI: 10.1007/s12687-011-0039-z
    Hemoglobin disorders which include thalassemias are the most common heritable disorders. Effective treatment is available, and these disorders can be avoided as identification of carriers is achievable using simple hematological tests. An in-depth understanding of the awareness, attitudes, perceptions, and screening reservations towards thalassemia is necessary, as Malaysia has a multi-ethnic population with different religious beliefs. A total of 13 focus group discussions (70 participants) with members of the general lay public were conducted between November 2008 and January 2009. Lack of knowledge and understanding about thalassemia leads to general confusions over differences between thalassemia carriers and thalassemia major, inheritance patterns, and the physical and psychologically impact of the disorder in affected individuals and their families. Although most of the participants have not been tested for thalassemia, a large majority expressed willingness to be screened. Views on prenatal diagnosis and termination of fetuses with thalassemia major received mixed opinions from participants with different religions and practices. Perceived stigma and discrimination attached to being a carrier emerged as a vital topic in some group discussions where disparity in the answers exhibited differences in levels of participants' literacy and ethnic origins. The two most common needs identified from the discussion were information and screening facilities. Participants' interest in knowing the severity of the disease and assessing their risk of getting the disorder may imply the health belief model as a possible means of predicting thalassemia public screening services. Findings provide valuable insights for the development of more effective educational, screening, and prenatal diagnostic services in the multi-ethnic Asian society.
    Matched MeSH terms: beta-Thalassemia
  6. Fulltext High performance liquid chromatography (HPLC) as a screening tool for classical Beta-thalassaemia trait in malaysia
    George E, Jamal AR, Khalid F, Osman KA
    Malays J Med Sci, 2001 Jul;8(2):40-6.
    PMID: 22893759 MyJurnal
    Beta-thalassaemia is characterized by a decrease (β(+)) or absence (β(0)) in the synthesis of β-globin chains of human haemoglobin. The heterozygous state for β(+) or β(0) result in β-thalassaemia trait in which the hallmark is the presence of an elevated level of Haemoglobin (Hb) A(2) (α(2)δ(2)). In the past, the traditional methods such as cellulose acetate electrophoresis with elution and microcolumn chromatrography have been the techniques used by the majority of the laboratories in Malaysia for the estimation of (Hb) A(2) levels. The recommended method currently is high performance liquid chromatography which has only been introduced in a few laboratories in the country.
    Matched MeSH terms: beta-Thalassemia
  7. Fulltext Peginterferon alfa-2b and ribavirin in thalassaemia/chronic hepatitis C virus-co-infected non-responder to standard interferon-based
    Hamidah A, Thambidorai CR, Jamal R
    Med J Malaysia, 2005 Oct;60(4):517-9.
    PMID: 16570722
    We describe a patient with HbE-beta thalassaemia and chronic hepatitis C virus infection (genotype 1a) who was treated successfully with peginterferon alfa-2b and ribavirin, following failure to respond to standard interferon and ribavirin therapy. She had sustained virological response for nearly 24 months after completing peginterferon alfa-2b and ribavirin therapy. Transfusion requirements were significantly increased during combination therapy due to ribavirin-induced haemolysis. The adverse effects of interferon were well tolerated. Combination therapy with peginterferon alfa-2b and ribavirin maybe a feasible treatment option for a subset of thalassaemia/HCV infected non-responders to standard interferon-based therapy.
    Matched MeSH terms: beta-Thalassemia/complications*
  8. A feasibility study: in vivo x-ray fluorescence of iron using 109Cd
    Shukri A, Green S, Bradley DA
    Appl Radiat Isot, 1995 6 1;46(6-7):625.
    PMID: 7633384
    Matched MeSH terms: beta-Thalassemia/therapy
  9. Fulltext Melioidosis in a splenectomized boy with beta-thalassemia major
    Hoe TS, Deng CT, Khuzaiah R
    Southeast Asian J. Trop. Med. Public Health, 1993 Sep;24(3):601-2.
    PMID: 8160075
    Matched MeSH terms: beta-Thalassemia/complications*
  10. Gene therapy: An updated overview on the promising success stories
    Rashid RA, Ankathil R
    Malays J Pathol, 2020 Aug;42(2):171-185.
    PMID: 32860369
    Gene therapy is a method of treatment of disease aimed at its molecular level. The progress of gene therapy, however, was as promising as it was tardy mainly due to the limitations in the resources and financial part of its development as well as owing to the rarity of most diseases it can offer its benefits to. The methods of gene therapy can vary depending on factors such as the physiology of tissue of interest, affinity of vectors to a certain type of cells, depth and accessibility of the tissue of interest, and size of the gene to be replaced or edited. The concept behind gene therapy has inspired scientists and clinicians alike leading to a rapid expansion of its clinical utility that has become so widespread to not only include diseases of monogenic origin, but also polygenic diseases, albeit not so commonly. This article delves into notable success stories of gene therapy which has been regarded as the beacon of medical novelty expected to blossom in the near future to provide a holistic, targeted, precise, and individualistic personalised-medicine as well as laying out the future hopes of gene therapy in the treatment of debilitating diseases such as solid tumours, AIDS, Tuberculosis, Diabetes Mellitus, psychiatric illnesses, which are still at a standstill, from a gene therapy point of view.
    Matched MeSH terms: beta-Thalassemia/therapy
  11. Fulltext Seroprevalence of hepatitis B, hepatitis C, CMV and HIV in multiply transfused thalassemia patients: results from a thalassemia day care center in Malaysia
    Jamal R, Fadzillah G, Zulkifli SZ, Yasmin M
    Southeast Asian J. Trop. Med. Public Health, 1998 Dec;29(4):792-4.
    PMID: 10772566
    Regular blood transfusions for patients with thalassemia have improved their overall survival although these transfusions carry a definite risk of the transmission of certain viruses. Infection with hepatitis B virus (HBV), hepatitis C virus (HCV), cytomegalovirus (CMV) and human immunodeficiency virus (HIV) leads to complications which contribute to the morbidity and mortality of patients with thalassemia. We analyzed the blood samples taken from 85 transfusion dependent thalassemics receiving treatment at the day care center in Hospital Universiti Kebangsaan Malaysia and found that the seroprevalence rates for HBV, HCV and CMV were 2.4%, 22.4% and 91.8% respectively. None of the patients tested positive for HIV. Those positive for HBV and HCV will require further tests and treatment if chronic hepatitis is confirmed.
    Matched MeSH terms: beta-Thalassemia/therapy; beta-Thalassemia/virology*
  12. α-Haemoglobin stabilising protein expression is influenced by mean cell haemoglobin and HbF levels in HbE/β-thalassaemia individuals
    Lim WF, Muniandi L, George E, Sathar J, Teh LK, Gan GG, et al.
    Blood Cells Mol. Dis., 2012 Jan 15;48(1):17-21.
    PMID: 22079025 DOI: 10.1016/j.bcmd.2011.10.002
    The alpha haemoglobin stabilising protein (AHSP) acts as a molecular chaperone for α-globin by stabilising nascent α-globin before transferring it to waiting free β-globin chains. Binding of AHSP to α-globin renders α-globin chemically inert whereby preventing it from precipitating and forming reactive oxygen species byproducts. The AHSP has been actively studied in the recent years, particularly in its relation to β-thalassaemia. Studies have shown that AHSP is a modifier in β-thalassaemia mice models. However, this relationship is less established in humans. Studies by some groups showed no correlation between the AHSP haplotypes and the severity of β-thalassaemia, whereas others have shown that certain AHSP haplotype could modify the phenotype of β-thalassaemia intermedia patients. We investigated the expression of AHSP in relation to selected demographic data, full blood count, HPLC results, HbE/β-thalassaemia genotype, Xmn-1 Gγ polymorphism, α-globin, β-globin and γ-globin expression. We found that AHSP expression was significantly correlated to mean cell haemoglobin level, HbF %, α-globin, β-globin and excess α-globin expression. We concluded that AHSP could be a secondary compensatory mechanism in red blood cells to counterbalance the excess α-globin chains in HbE/β-thalassaemia individuals.
    Matched MeSH terms: beta-Thalassemia/genetics*
  13. A twins heritability study on alpha hemoglobin stabilizing protein (AHSP) expression variability
    Lai MI, Garner C, Jiang J, Silver N, Best S, Menzel S, et al.
    Twin Res Hum Genet, 2010 Dec;13(6):567-72.
    PMID: 21142933 DOI: 10.1375/twin.13.6.567
    Cytotoxic precipitation of free α-globin monomers and its production of reactive oxygen species cause red cell membrane damage that leads to anemia and eventually ineffective erythropoiesis in β-thalassemia. Alpha hemoglobin stabilizing protein (AHSP) was found to bind only to free α-globin monomers creating a stable and inert complex which remains soluble in the cytoplasm thus preventing harmful precipitations. Alpha hemoglobin stabilizing protein was shown to bind nascent α-globin monomers with transient strength before transferring α-globin to β-globin to form hemoglobin tetramer. A classical twin study would be beneficial to investigate the role of genetics and environment in the variation of alpha hemoglobin stabilizing protein expression as this knowledge will enable us to determine further investigations with regards to therapeutic interventions if alpha hemoglobin stabilizing protein is to be a therapeutic agent for β-thalassemia. This study investigates the heritability influence of alpha hemoglobin stabilizing protein expression and factors that may contribute to this. Results indicated that a major proportion of alpha hemoglobin stabilizing protein expression was influenced by genetic heritability (46%) with cis-acting factors accounting for 19% and trans-acting factors at 27%.
    Matched MeSH terms: beta-Thalassemia/genetics*
  14. Prothrombotic markers in Thalassemia major patients: A paradigm shift
    Sultan S, Irfan SM, Zaidi SM
    Med J Malaysia, 2018 08;73(4):185-189.
    PMID: 30121679
    BACKGROUND: It is being increasingly recognised that thalassemia major patients, like intermedia, have increased propensity for thromboembolism. Deficiency of natural anticoagulants is more recently defined finding contributing to the hypercoagulable state. The aim this study is to determine natural anticoagulants levels and their correlation with maternal characteristics, haematological and biochemical markers.

    METHODS: This is a prospective case-control study. We registered 80 patients and 60 healthy controls from Jan 2009 to Dec 2013. Complete blood counts, prothrombin time, activated partial thromboplastin time, protein C, protein S, antithrombin, serum ferritin, liver enzymes; HbsAg and Anti- HCV were evaluated.

    RESULT: There were 42 males and 38 females with mean age of 12.30±5.50 years. The mean protein C, protein S and antithrombin in patients and control were 58.25±22.5 versus 110.67±22.60, 67.90±19.58 versus 98.70±21.54 and 89.73±18.09 versus 104.0±10.98 (p<0.001) respectively. Protein C was predominantly deficient in 65% followed by protein S and antithrombin in 35% and 20% respectively. Protein C deficiency divulged positive correlation with protein S deficiency (p = 0.035) and antithrombin deficiency with hemoglobin of ≤8gm% (p<0.0025). No significant correlation of prothrombotic markers was established with maternal characteristics, hepatic dysfunction, hepatitis and serum ferritin.

    CONCLUSION: Substantial decrement in prothrombotic markers, primarily protein C, may be implicated in elevated thrombosis; however follow-up data is required to establish definitive thromboembolic events.

    Matched MeSH terms: beta-Thalassemia/blood*
  15. Fulltext A prospective study on the use of leucocyte-filters in reducing blood transfusion reactions in multi-transfused thalassemic children
    Tan KK, Lee WS, Liaw LC, Oh A
    Singapore Med J, 1993 Apr;34(2):109-11.
    PMID: 8266145
    Two hundred and eleven blood transfusions were administered to 26 multi-transfused thalassemic children (aged 9 months-13 years) over a 6-month period. Eighteen children were receiving buffy coat-poor packed red cells (PRC) prepared by centrifuge while 8 children received filtered blood through a leucocyte-filter (Sepacell R-500A). Transfusion reactions occurred in 8.5% (n = 18) of transfusions and in 42.3% (n = 11) of patients. 11.9% (n = 16) and 2.6% (n = 2) of reactions occurred in 50% (n = 9) and 25% (n = 2) of patients receiving buffy coat-poor PRC and filtered blood respectively. Transfusion reactions in toto were significantly reduced in the group receiving filtered blood (p < 0.05). However, febrile reaction alone was not significantly reduced (p > 0.1). The median onset and duration of reaction were 2 hours (range 10 minutes-18 hours) and 4 hours (range 1/2-24 hours) respectively. 72.2% (n = 13) of the reactions occurred occurred during transfusion. 88.8% (n = 16) of the reactions caused only one symptom. 19.2% (n = 5) of all patients had recurrent reactions, all of them receiving buffy coat-poor PRC. The commonest clinical manifestation was fever (n = 7), followed by urticaria (n = 5) and petechial rash (n = 2). The outcome was good, with no patient experiencing symptoms exceeding 24 hours. Only 0.9% (n = 2) of the transfusions were discontinued.
    Matched MeSH terms: beta-Thalassemia/therapy*
  16. Fulltext Melioidosis transfusion transmitted infection in beta thalassemia patient’s
    Sahrol Nizam Bin Abu Bakar, Al-Afiq Alias, Masrah Tata
    Malaysian Journal of Medicine and Health Sciences, 2019;15(106):100-100.
    MyJurnal
    Introduction:Transfusion Transmitted Infections is occurring worldwide. The common organisms related reported in literature were Human Immunodefiency Virus, Hepatitis B and C Virus, bacterial contamination and Malaria par-asites. Meanwhile, Melioidosis is endemic disease in Malaysia and especially Sabah. Mortality due to Melioidosis septicaemia was also high. It ranges between 60%-80%. In Sabah, 74% of Thalassemia children were diagnosed with Bacteraemia Melioidosis and 50% had died due to the organisms. The incidence of Melioidosis Transfusion Transmitted Infection is rarely reported in the literature. Case Description: A 17-year-old girl was diagnosed having Beta thalassemia major since 5 years old and splenectomised 8 years ago. Currently on prophylaxis Penicillin and Ex-jade. She was admitted into hospital for monthly blood transfusion. Two days prior to admission, patient complained of having sore throat and cough but no fever and other complained. On examination, the tonsil enlarged and was treated as exudative tonsillitis. She was transfused with 2 pint packed cells within 2 days. No transfusion reaction noted. Day seven admission, she had high grade fever and redness of the right hand cannulation site and was treated as right hand cellulitis with intravenous Cloxacillin. Full blood count shows Total White Cell count was 24.9 x109 /L, Haemoglobin level was 9.3 g/dl and Platelets was 462x109/L. Blood for culture and sensitivity was taken and Chest X-ray noted haziness over the left mid and lower zone of the lung and was treated as Hospital Acquired Pneumonia. She was referred to tertiary hospital for further management. Her conditioned deteriorated and died at the casualty unit in the tertiary hospital. Blood culture was positive for Burkholderia pseudomallei. The case was reported to Dis-trict health office for further investigation. Blood donor tracing was done and was positive for Melioidosis through Elisa Antibody titre IgM for Melioidosis (1:320). The patient’s house and school were visited and investigated. All environmental samples were negative for Burkholderia pseudomallei. Conclusion: Its shows a relationship between blood donations infected with Burkholderia pseudomallei causing mortality of Beta Thalassemia patients. It is highly recommended to screen all blood products for communicable disease fatal organisms.
    Matched MeSH terms: beta-Thalassemia
  17. Fulltext Diplopia in a post-splenectomy Thalassemic patient
    Neoh, Pei Fang, Tai, Evelyn L.M., Liza Sharmini A.T.
    Journal of Biomedical and Clinical Sciences, 2017;2(2):26-28.
    MyJurnal
    We report a case of cavernous sinus thrombosis in a post-splenectomy male with underlying Haemoglobin E Thalassemia major. A 35-year-old man presented with a first episode of sudden onset of diplopia on lateral gaze for 1 week. He had no other ocular and systemic symptoms. There was no history of trauma or recent infection. However, he admitted that he was not compliant to his oral penicillin V and aspirin, which was prescribed to all post splenectomy patients. Unaided visual acuity in both eyes was 6/6. On examination, there was limited abduction over the left eye, suggestive of left lateral rectus palsy. Full blood count revealed leucocytosis with thrombocytosis. Magnetic resonance imaging, magnetic resonance angiography and magnetic resonance venography of the brain showed bulging of the left cavernous sinus, with a persistent focal filling defect, in keeping with left cavernous sinus thrombosis (CST). He was diagnosed with left isolated sixth nerve palsy secondary to aseptic cavernous sinus thrombosis with pro-thrombotic state post-splenectomy. He was started on subcutaneous fondaparinux and oral warfarin. His diplopia fully resolved after 1 month of treatment with complete resolution of CST on computed tomography venogram.
    Matched MeSH terms: beta-Thalassemia
  18. Siriraj I Gγ(Aγδβ)0-thalassaemia causing severe thalassaemia intermedia in compound heterozygous state with IVS1-1(G→T) mutation
    Wong YY, Alauddin H, Raja Sabudin RZA, Ithnin A, Jalil N, Abdul Latiff Z, et al.
    Malays J Pathol, 2021 Apr;43(1):95-100.
    PMID: 33903312
    The Siriraj I Gγ(Aγδβ)0-thalassaemia is a novel mutation involving a 118kb deletion of the β-globin gene cluster. It was first reported in 2012 in two unrelated families from the southern part of Thailand. The carriers in the heterozygous state are clinically asymptomatic. Nonetheless, its complex interaction with other β-thalassaemia could give rise to different clinical phenotypes, ranging from mild thalassaemia intermedia to thalassaemia major. We report here a case of a six-year-old Malay boy, presented with pallor, growth failure and hepatosplenomegaly. His haemoglobin at presentation was 9.2g/dL with a mean cell haemoglobin of 22.6pg and a mean cell volume of 69.9fl. His peripheral blood smear showed features of thalassaemia intermedia. Haemoglobin (Hb) analysis revealed markedly raised Hb F (83%), normal HbA2 levels and absent HbA. Deoxyribonucleic acid (DNA) analysis showed compound heterozygous IVS1-1 (G→T) β-globin gene mutation and Siriraj I Gγ(Aγδβ)0-deletion (genotype βIVS1-1/ β Siriraj I deletion). Both his father and elder sister are carriers of Siriraj I Gγ(Aγδβ)0-thalassaemia while his mother carries IVS1-1 (G→T) gene mutation. Clinically, the patient is transfusion dependent on six weekly regime. To the best of our knowledge, this is the first reported case in Malaysia involving unique Siriraj I Gγ(Aγδβ)0-thalassaemia and IVS1-1 (G→T) in a compound heterozygous state. In summary, detection of Siriraj I Gγ(Aγδβ)0-thalassaemia is essential as this deletion can lead to severe disease upon interaction with a β-thalassemia point mutation as demonstrated in our case. The establishment of effective carrier screening and genetic counselling is important to prevent its adverse consequences.
    Matched MeSH terms: beta-Thalassemia
  19. Fulltext Compliance and barriers of beta-thalassaemia patients towards iron chelation therapy in Hospital Keningau, Sabah. [Abstract]
    Elfira Cassandra Enderik, Syahrizal Azizi Shaharudin, Gan, Siaw Yun, Tan, Wei Chong, Adong, Arthur James, Ho, Jackie Chit Khong, et al.
    Borneo Journal of Medical Sciences, 2019;2(101):7-8.
    MyJurnal
    Introduction: Long-term survival in beta-thalassaemia major is strongly influenced by adherence to iron chelation therapy. Identifying factors that influence the compliance remains the first step in improving iron chelation therapy. Objective:Due to increase in number of non-compliance to iron chelation therapy for patients in Hospital Keningau, Keningau, Sabah, we aim to evaluate the compliance, identify the factors and assess disease knowledge of patients so that preventive measurement can be formulated. Methodology: This was a cross-sectional study conducted in Hospital Keningau by a combination of self-administered and interviewer-administered survey. The survey consists of 3 domains – knowledge assessment based on 10 items, identifying factors for non-compliance and compliance to treatment. Percentage of compliance was measured based on amount taken reported by patients over the intended therapy. Association between knowledge and compliance was measured using Pearson’s Chi Square. Results: A number of 52 patients completed the survey. The average age was 18 ± 4.77 years. The mean knowledge score was 6.15 out of 10. The percentage of compliance to desferrioxamine was 78.2 ± 30.2% while for deferiprone it was 72.4 ± 32.6%. There were no association between knowledge score and compliance to desferrioxamine (p = 0.893) and deferiprone (p = 0.874). Lazziness and pain were the main reasons for non-compliance chosen by patients on desferrioxamine ABSTRACTCompliance and Barriers of Beta-Thalassaemia Patients towards Iron Chelation Therapy in Hospital Keningau, SabahElfira Cassandra Enderik1*, Syahrizal Azizi bin Shaharudin1, Gan Siaw Yun1, Tan Wei Chong1, Arthur James Adong1, Jackie Ho Chit Khong1, Shamadevi Pasupathi1, Maggie Low May Yee1, Sivaraj Raman1Borneo Journal of Medical Sciences (BJMS), Special Issue, Volume 2, March 2019: 7 – 81 Pharmacy Department, Hospital Keningau, Keningau, Sabah, Malaysia* Corresponding author’s email: elfira_11@yahoo.comBorneo Journal of Medical SciencesBJMSKeywords:thalassaemia, compliance, knowledge, factor NMRR Research ID: NMRR-18-404-39581
    8Borneo Journal of Medical Sciences (BJMS),Special Issue, Volume 2, March 2019: 7 – 811 (3): 35 – 38(19.2%) while for deferiprone it was lazziness (23.1%) and side effects (19.2%). The poor compliance was reflected on the high average ferritin levels of respondents (7573 ± 5749). Conclusion: Even though most adolescents had knowledge about their disease, it did not affect patients’ compliance to therapy. Lazziness was the most prominent factor for non-compliance in adolescents in our study. This might be because iron chelation therapy is usually seen as a hindrance to independence. Thus in order to improve compliances, further study is needed to investigate the association between compliance and the affecting factors identified in our study.
    Matched MeSH terms: beta-Thalassemia
  20. Fulltext Secondary Sea-Blue Histiocytosis in a Patient with Transfusion Dependent HbE-Beta Thalassaemia and Osteosarcoma
    Saad Eldeen Bakheet O, Yusof N, Raja Zahratul A, Ithnin A, Abdul Aziz S, Alias H
    Indian J Hematol Blood Transfus, 2016 Jun;32(Suppl 1):262-6.
    PMID: 27408409 DOI: 10.1007/s12288-015-0582-6
    Secondary sea-blue histiocytosis occurs more frequently than the primary form and occurs consequent to a wide range of metabolic and haematologic disorders including thalassaemia. We report an 18-year-old Chinese boy with transfusion-dependent HbE-beta thalassaemia who complained of pain and swelling at the left iliac crest region for 2 months duration. Physical examination revealed pallor with hepatosplenomegaly. Local examination revealed a huge swelling 12 cm × 12 cm in diameter, firm in consistency and tender. Histopathological examination of the mass revealed an osteosarcoma. His bone marrow aspirate showed numerous sea-blue histiocytes, the cytoplasm of which was closely packed with fine granules that stained blue with May-Grunwald-Giemsa. The nuclei were centrally located in some cells and displaced towards the periphery in other cells. There was no malignant cell infiltration in the marrow. The case is reported due to the co-incidental dual pathology in our patient (HbE-beta thalassaemia and osteosarcoma) and the unusual bone marrow finding of numerous sea-blue histiocytes.
    Matched MeSH terms: beta-Thalassemia
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