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  1. Fulltext Observational study on the current status of thalassaemia in Malaysia: a report from the Malaysian Thalassaemia Registry
    Mohd Ibrahim H, Muda Z, Othman IS, Mohamed Unni MN, Teh KH, Thevarajah A, et al.
    BMJ Open, 2020 06 29;10(6):e037974.
    PMID: 32601117 DOI: 10.1136/bmjopen-2020-037974
    OBJECTIVE: Thalassaemia is the most common inherited blood disorder in Malaysia. This study aims to report the current status of thalassaemia in Malaysia and provide a comprehensive understanding of the disease through data obtained from the Malaysian Thalassaemia Registry.

    DESIGN: Data were extracted from the Malaysian Thalassaemia Registry, a web-based system accessible to enrolled users through www.mytalasemia.net.my.

    SETTING: The Malaysian Thalassaemia Registry data was recorded from reports obtained from 110 participating government and university hospitals in Malaysia.

    PARTICIPANTS: The patients were those attending the 110 participating hospitals for thalassaemia treatment.

    INTERVENTION: Data were collected from the Malaysian Thalassaemia Registry from 2007 until the fourth quarter of 2018.

    PRIMARY OUTCOME MEASURE: 7984 out of 8681 patients with thalassaemia registered in the Malaysian Thalassaemia Registry were reported alive.

    RESULTS: Majority of the patients were reported in the state of Sabah (22.72%); the largest age group affected was 5.0-24.9 years old (64.45%); the largest ethnic group involved was Malay (63.95%); and the major diagnosis was haemoglobin E/β-thalassaemia (34.37%). From the 7984 patients, 56.73% were on regular blood transfusions and 61.72% were on chelation therapy. A small fraction (14.23%) has undergone splenectomy, while the percentage of patients with severe iron overload (serum ferritin ≥5000 µg/L) reduced over time. However, cardiac complications are still the main cause of death in patients with thalassaemia.

    CONCLUSION: Data gathered into the registry can be used to understand the progression of the disorder, to monitor iron overload management and to improve the outcomes of treatment, to enhance preventive strategies, reduce healthcare burden and improve the quality of life. Sustainability of the Malaysian Thalassaemia Registry is important for surveillance of thalassaemia management in the country and help the national health authorities to develop more effective policies.

    Matched MeSH terms: beta-Thalassemia
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. Fulltext Presacral Extramedullary Haemopoiesis Mimicking an Ovarian Mass
    Amran, A.R., Moosa, F.
    International Medical Journal Malaysia, 2006;5(1):1-6.
    MyJurnal
    Extramedullary hematopoiesis (EH) is a rare but well-known compensatory mechanism of red blood cell production when the normal site of red bone marrow is unable to produce sufficient number of red blood cells. When the body demands for erythrocyte cells is high this lead to EH. This occurs mainly outside the bone marrow, usually paraspinally and sites which are normally observed in the fetus as in the liver, spleen, lymph nodes and less frequently at other sites such as adrenal, thymus, kidneys, pleura, breast, skin, gastrointestinal tract, dura mater and brain.This is more frequent in thalassaemia major (incidence up to 15% of cases), in myelofibrosis, myeloproliferative diseases (polycythemia rubra vera, chronic myeloid leukemia,), hemolytic anemias such as hereditary spherocytosis, pyruvate-kinase deficiency, medullary tuberculosis and in Paget’s disease of the bone. In some cases the cause of the EH are not identified [3]. We describe a case of EH in the presacral space that mimicked an ovarian mass on ultrasound in a patient with beta-thalassaemia intermedia.
    Matched MeSH terms: beta-Thalassemia
  8. Fulltext Serum soluble transferrin receptor concentration as a biomarker of erythropoietic activity: surrogate marker of adequate transfusion in adult beta-thalassaemia intermedia patients
    Thambiah, S., George, E., Nor Aini, U., Sathar, J., Zarida, H., Mokhtar, A.B.
    Malaysian Journal of Medicine and Health Sciences, 2013;9(2):3-12.
    MyJurnal
    Management of Beta (β)-thalassaemia intermedia in contrast to β-thalassaemia major patients has no clear guidelines as to indicators of adequate transfusion. Regular blood transfusion suppresses bone marrow erythropoietic activity. Serum soluble transferrin receptor (sTfR) concentration is a marker for erythropoietic activity, with increased sTfR being associated with functional iron deficiency and increased erythropoietic activity. This study aimed to determine the use of sTfR as an indicator of adequate transfusion in adult β-thalassaemia intermedia patients. A cross-sectional study was conducted at Hospital Ampang, Malaysia, for six months. Patient group included six β-thalassaemia intermedia and 34 HbE-β-thalassaemia transfused patients. None of the patients were on regular monthly blood transfusions as in β-thalassaemia major. The control group comprised of 16 healthy subjects with normal haematological parameters. Haemoglobin (Hb) analysis, sTfR and ferritin assays were performed. Hb and HbA percentages (%) were found to be significantly lower in patients compared to the controls, while HbE%, HbF%, sTfR and ferritin were significantly higher in patients. An inverse relationship was found in the controls between HbF% with Hb (r = -0.515, p < 0.05) and HbA% (r = -0.534, p < 0.05). In patients, sTfR showed an inverse relationship with HbA% (r = -0.618, p = 0.000) and a positive correlation with HbE% (r = 0.418, p = 0.007) and HbF% (r = 0.469, p = 0.002). Multivariate analysis showed that HbA% (r = 2.875, p = 0.048), HbE% (r = 2.872, p = 0.020) and HbF% (r = 2.436, p = 0.013) best predicted sTfR independently in patients. Thus, sTfR is a useful marker for erythropoiesis. The elevated sTfR in these patients indicate that the transfusion regimen used was inadequate to suppress ineffective erythropoiesis. Hb levels may not be the best target for monitoring transfusion treatment in β-thalassaemia intermedia patients, but the use of sTfR is helpful in individualising transfusion regimens.
    Matched MeSH terms: beta-Thalassemia
  9. 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*
  10. 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*
  11. 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*
  12. 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*
  13. 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*
  14. 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*
  15. 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
  16. 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*
  17. 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
  18. Fulltext The Prevalence of Sensorineural Hearing Loss in β-thalassaemia patient treated with Desferrioxamine
    Kong MH, Goh BS, Hamidah A, Zarina AL
    Med J Malaysia, 2014 Feb;69(1):9-12.
    PMID: 24814621 MyJurnal
    OBJECTIVE: This study aimed to evaluate the prevalence of sensorineural hearing loss (SNHL) in β-thalassaemia patients treated with Desferrioxamine (DFO) and determine the correlation of SNHL with average daily DFO dosage, serum ferritin level and Therapeutic index (T.I).

    METHODS: This is a cross sectional descriptive study carried out for a period of 14 months and 54 patients were recruited. The recruited patients are transfusion dependant β- thalassaemia patient aged 3 years and above treated with DFO. An interview, clinical examination and hearing assessment, which included tympanogram, and Pure Tone Audiometry (PTA) or behaviour alaudiometry were performed. The data on age started on DFO, average daily DFO, duration of DFO intake, serum ferritin past 1 year and Therapeutic Index (T.I) were obtained from patients' case notes.

    RESULTS: The prevalence of SNHL was 57.4% and majority has mild hearing loss (93.6%). Fourteen patients (25.9%) have bilateral ear involvement and as many as 17 patients (31.5%) have SNHL in either ear. A total of 23 patients (42.6%) have normal hearing level. Although the prevalence of SNHL was 57.4%, only a small percentage of the patient noticed and complained of hearing loss (11.1%). There is no association between age started on DFO, average daily DFO and duration of DFO intake with normal hearing group and those patients with SNHL. Positive correlation was seen between average daily DFO with 2000 and 4000Hz on PTA in the left ear and between serum ferritin level past 1 year with 4000 and 8000Hz in the right ear and 8000Hz in the left ear. No significant correlation was seen between T.I on PTA.

    CONCLUSION: The prevalence of SNHL from hearing assessment is high in β-thalassaemia patients in this study. However, it is manifested clinically in a smaller percentage. We suggest a baseline hearing assessment should be carried on all β-thalassaemia patients prior to DFO chelation therapy.
    Matched MeSH terms: beta-Thalassemia
  19. Fulltext Correlation of BACH1 and Hemoglobin E/Beta-Thalassemia Globin Expression
    Lee TY, Muniandy L, Teh LK, Abdullah M, George E, Sathar J, et al.
    Turk J Haematol, 2016 Mar 05;33(1):15-20.
    PMID: 26377036 DOI: 10.4274/tjh.2014.0197
    The diverse clinical phenotype of hemoglobin E (HbE)/β-thalassemia has not only confounded clinicians in matters of patient management but has also led scientists to investigate the complex mechanisms involved in maintaining the delicate red cell environment where, even with apparent similarities of α- and β-globin genotypes, the phenotype tells a different story. The BTB and CNC homology 1 (BACH1) protein is known to regulate α- and β-globin gene transcriptions during the terminal differentiation of erythroid cells. With the mutations involved in HbE/β-thalassemia disorder, we studied the role of BACH1 in compensating for the globin chain imbalance, albeit for fine-tuning purposes.
    Matched MeSH terms: beta-Thalassemia/genetics*; beta-Thalassemia/metabolism; beta-Thalassemia/epidemiology
  20. Fulltext A novel gap-PCR with high resolution melting analysis for the detection of α-thalassaemia Southeast Asian and Filipino β°-thalassaemia deletion
    Kho SL, Chua KH, George E, Tan JA
    Sci Rep, 2015;5:13937.
    PMID: 26365497 DOI: 10.1038/srep13937
    Homozygosity for the α-thalassaemia Southeast Asian (α-SEA) and Filipino β°-thalassaemia (β-FIL) deletions can cause serious complications leading to foetal death or life-long blood transfusions. A rapid and accurate molecular detection assay is essential in populations where the deletions are common. In this study, gap-polymerase chain reaction (PCR) with high resolution melting (HRM) analysis was developed to detect both the large deletions. Melting curves at 86.9 ± 0.1 °C were generated by normal individuals without the α-SEA deletion, 84.7 ± 0.1 °C by homozygous α-SEA deletion individuals and two melting curves at 84.7 ± 0.1 °C and 86.9 ± 0.1 °C by α-SEA deletion carriers. Normal individuals without the β-FIL deletion produce amplicons with a melting temperature (Tm) at 74.6 ± 0.1 °C, homozygous β-FIL individuals produce amplicons with Tm at 73.6 ± 0.1 °C and heterozygous β-FIL individuals generate two amplicons with Tm at 73.6 ± 0.1 °C and 74.6 ± 0.1 °C. Evaluation using blinded tests on 220 DNA samples showed 100% sensitivity and specificity. The developed assays are sensitive and specific for rapid molecular and prenatal diagnosis for the α-SEA and β-FIL deletions.
    Matched MeSH terms: beta-Thalassemia
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