Displaying publications 1 - 20 of 278 in total

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  1. Transfusion-dependent thalassaemics: a practical approach
    George E, George R, Duraisamy G, Ilina I, Swaminathan M, Thien T, et al.
    Family Practitioner, 1986;9:35-37.
    Matched MeSH terms: Thalassemia
  2. A review on thalassemia profile in Malaysia and the challenges of its prevention and control programme
    Buang SN, Diana R, Jaafar S, Muhammad DI, Daud MSM, Jamaluddin J, et al.
    Malaysian Journal of Public Health Medicine, 2017;17(3):15-26.
    This review aims to profile the disease of thalassemia in Malaysia and to identify the challenges that have kept Malaysia from effectively reducing the birth rate of thalassemia patients. The success of thalassemia prevention programs in some countries have shown that more than 90% of the reduction of cases were achieved by using retrospective screening method (prenatal, premarital, retrospective counselling). However, in Malaysia any impact of the prevention program is yet to be visible, and a reduction in new births of thalassemia patients remains to be seen. The number of patients in the national thalassemia registry (www.mytalasemia.net.my) is increasing over the years from 3588 in 2008 to 4990 in 2010 and to 6624 in 2015. The provision of quality care and disease management imposes a huge economic burden on national health resources, which is why an effective prevention program is urgently needed. For Malaysia to reduce the burden of new thalassemia cases, it is vital to address gaps and limitations of the existing preventive strategies. The screening program has to be integrated into existing primary healthcare settings, promoted to every party including the higher ministry bodies and designed to adapt to the highly diverse local religious and cultural backgrounds. Through continuous support by the government, health care providers and the general public, there is hope that prevention and control of this disease may be achieved in the future.
    Matched MeSH terms: Thalassemia
  3. The thalassaemias: pathophysiology, diagnosis and management
    Khalid H
    Family Practitioner, 1985;8:39-48.
    Matched MeSH terms: Thalassemia
  4. Treatment for osteoporosis in people with ß-thalassaemia
    Bhardwaj A, Swe KM, Sinha NK, Osunkwo I
    Cochrane Database Syst Rev, 2016;3:CD010429.
    PMID: 26964506 DOI: 10.1002/14651858.CD010429.pub2
    BACKGROUND: Osteoporosis is a systemic skeletal disease characterized by low bone mass and micro-architectural deterioration of bone tissue with a consequent increase in bone fragility and susceptibility to fracture. Osteoporosis represents an important cause of morbidity in people with beta-thalassaemia and its pathogenesis is multifactorial. Factors include bone marrow expansion due to ineffective erythropoiesis, resulting in reduced trabecular bone tissue with cortical thinning; endocrine dysfunction secondary to excessive iron loading, leading to increased bone turnover; and lastly, a predisposition to physical inactivity due to disease complications with a subsequent reduction in optimal bone mineralization.A number of therapeutic strategies have been applied to treat osteoporosis in people with beta-thalassaemia, which include bisphosphonates, with or without, hormone replacement therapy. There are various forms of bisphosphonates, such as clodronate, pamidronate, alendronate and zoledronic acid. Other treatments include calcitonin, calcium, zinc supplementation, hydroxyurea and hormone replacement therapy for preventing hypogonadism.
    OBJECTIVES: To review the evidence on the efficacy and safety of treatment for osteoporosis in people with beta-thalassaemia.
    SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Haemoglobinopathies Trials Register comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.Date of most recent search: 04 February 2016.
    SELECTION CRITERIA: Randomised, placebo-controlled trials in people with thalassaemia with a bone mineral density z score of less than -2 standard deviations for: children less than 15 years old; adult males (15 to 50 years old); and all pre-menopausal females above 15 years and a bone mineral density t score of less than -2.5 standard deviations for post-menopausal females and males above 50 years old.
    DATA COLLECTION AND ANALYSIS: Two review authors assessed the eligibility and risk of bias of the included trials, extracted and analysed data and completed the review. We summarised results using risk ratios or rate ratios for dichotomous data and mean differences for continuous data. We combined trial results where appropriate.
    MAIN RESULTS: Four trials (with 211 participants) were included; three trials investigated the effect of bisphosphonate therapies and one trial investigated the effect of zinc supplementation. Only one trial was judged to be of good quality (low risk of bias); the remaining trials had a high or unclear risk of bias in at least one key domain.One trial (data not available for analysis) assessing the effect of neridronate (118 participants) reported significant increases in favour of the bisphosphonate group for bone mineral density at the lumbar spine and hip at both six and 12 months. For the femoral neck, a significant difference was noted at 12 months only. A further trial (25 participants) assessed the effect of alendronate and clodronate and found that after two years, bone mineral density increased significantly in the alendronate and clodronate groups as compared to placebo at the lumbar spine, mean difference 0.14 g/cm(2) (95% confidence interval 0.05 to 0.22) and at the femoral neck, mean difference 0.40 g/cm(2) (95% confidence interval 0.22 to 0.57). One 12-month trial (26 participants) assessed the effects of different doses of pamidronate (30 mg versus 60 mg) and found a significant difference in bone mineral density in favour of the 60 mg dose at the lumbar spine and forearm, mean difference 0.43 g/cm(2) (95% CI 0.10 to 0.76), mean difference 0.87 g/cm(2) (95% CI 0.23 to 1.51), respectively, but not at the femoral neck.In a zinc sulphate supplementation trial (42 participants), bone mineral density increased significantly compared to placebo at the lumbar spine after 12 months (37 participants), mean difference 0.15 g/cm(2) (95% confidence interval 0.10 to 0.20) and after 18 months (32 participants), mean difference 0.34 g/cm(2) (95% confidence interval 0.28 to 0.40). The same was true for bone mineral density at the hip after 12 months, mean difference 0.15 g/cm(2) (95% confidence interval 0.11 to 0.19) and after 18 months, mean difference 0.26 g/cm(2) (95% confidence interval 0.21 to 0.31).Fractures were not observed in one trial and not reported in three trials. There were no major adverse effects reported in two of the bisphosphonate trials; in the neridronate trial there was a reduction noted in the use of analgesic drugs and in the reported back pain score in favour of bisphosphonate treatment. Adverse effects were not reported in the trial of different doses of pamidronate or the zinc supplementation trial.
    AUTHORS' CONCLUSIONS: There is evidence to indicate an increase in bone mineral density at the femoral neck, lumbar spine and forearm after administration of bisphosphonates and at the lumbar spine and hip after zinc sulphate supplementation. The authors recommend that further long-term randomised control trials on different bisphosphonates and zinc supplementation therapies in people with beta-thalassaemia and osteoporosis are undertaken.
    Matched MeSH terms: Thalassemia*
  5. Fulltext Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease
    Hussein N, Henneman L, Kai J, Qureshi N
    Cochrane Database Syst Rev, 2021 Oct 11;10(10):CD010849.
    PMID: 34634131 DOI: 10.1002/14651858.CD010849.pub4
    BACKGROUND: Globally, about 6% of children are born with a serious birth defect of genetic or partially genetic origin. Carrier screening or testing is one way to identify couples at increased risk of having a child with an autosomal recessive condition. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in high-risk populations of specific ancestral backgrounds. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully informed reproductive decisions, with some of these choices not being available if testing is only offered in an antenatal setting. This is an update of a previously published review.

    OBJECTIVES: To assess the effectiveness of systematic preconception genetic risk assessment to enable autonomous reproductive choice and to improve reproductive outcomes  in women and their partners who are both identified as carriers of thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease in healthcare settings when compared to usual care.

    SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Registers. Date of latest search of the registers: 04 August 2021. In addition, we searched for all relevant trials from 1970 (or the date at which the database was first available if after 1970) to date using electronic databases (MEDLINE, Embase, CINAHL, PsycINFO), clinical trial databases (National Institutes of Health, Clinical Trials Search portal of the World Health Organization, metaRegister of controlled clinical trials), and hand searching of key journals and conference abstract books from 1998 to date (European Journal of Human Genetics, Genetics in Medicine, Journal of Community Genetics). We also searched the reference lists of relevant articles, reviews and guidelines and also contacted subject experts in the field to request any unpublished or other published trials. Date of latest search of all these sources: 25 June 2021.  SELECTION CRITERIA: Any randomised controlled trials (RCTs) or quasi-RCTs (published or unpublished) comparing reproductive outcomes of systematic preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease when compared to usual care.

    DATA COLLECTION AND ANALYSIS: We identified 37 papers, describing 22 unique trials which were potentially eligible for inclusion in the review. However, after assessment, we found no RCTs of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.

    MAIN RESULTS: No RCTs of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease are included. A trial identified earlier has published its results and has subsequently been listed as excluded in this review.

    AUTHORS' CONCLUSIONS: As there are no RCTs of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis, or Tay-Sachs disease included in either the earlier or current versions of this review, we recommend considering potential non-RCTs studies (for example prospective cohorts or before-and-after studies) for future reviews. While RCTs are desirable to inform evidence-based practice and robust recommendations, the ethical, legal and social implications associated with using this trial design to evaluate the implementation of preconception genetic risk assessment involving carrier testing and reproductive autonomy must also be considered.  In addition, rather than focusing on single gene-by-gene carrier testing for specific autosomal-recessive conditions as the intervention being evaluated, preconception expanded genetic screening should also be included in future searches as this has received much attention in recent years as a more pragmatic strategy. The research evidence for current international policy recommendations is limited to non-randomised studies.

    Matched MeSH terms: Thalassemia*
  6. Fulltext Comment on: Prevalence of growth and endocrine disorders in Malaysian children with transfusion-dependent thalassaemia
    Sookaromdee P, Wiwanitkit V
    Singapore Med J, 2019 12;60(12):657.
    PMID: 31889203 DOI: 10.11622/smedj.2019163
    Matched MeSH terms: Thalassemia*
  7. Thalassaemia: an enzyme defect?
    VELLA F
    Med J Malaya, 1959 Dec;14:116-21.
    PMID: 13841623
    Matched MeSH terms: Thalassemia*; beta-Thalassemia/etiology*
  8. Fulltext Thalassaemia and haemoglobinopathies in Brunei Darussalam
    Ismail JB
    Med J Malaysia, 1992 Jun;47(2):98-102.
    PMID: 1494340
    One thousand consecutive Brunei Darussalam patients referred with low Hb, and/or low MCV and MCH (Hb < 12.5g/dl, MCV < 76fl, MCH < 27pg) were studied in the laboratory for underlying haemoglobinopathies. 30.0% of such patients were proved to have either beta-thalassaemia trait, beta-thalassaemia major, Hb AE, Hb EE, Hb E beta-thalassaemia or Hb H disease. In some, the haemoglobin abnormality was not identified precisely. Alpha-thalassaemia was suspected in an additional 4.3% of cases but confirmation study by globin-chain synthesis was not available. Beta-thalassaemia trait which was the predominant disorder was equally distributed among the three major race groups of Brunei Darussalam. Hb E was found exclusive among the Malay population. Hb H disease appeared as more common among the Chinese or the Malays (p > 0.05). This study reveals that thalassaemia and haemoglobinopathies are prevalent in Brunei Darussalam.
    Matched MeSH terms: Thalassemia/genetics; Thalassemia/epidemiology*; beta-Thalassemia/genetics; beta-Thalassemia/epidemiology
  9. Interaction of haemoglobin E with alpha-thalassaemia and haemoglobin Constant Spring
    Ganesan J, Lie-Injo LE, Ng TS, George R
    Acta Haematol., 1977;57(2):109-15.
    PMID: 402765 DOI: 10.1159/000207867
    The combination of Hb E,alpha-thalassaemia and Hb CoSp was found in a 20-year-old female Malay who presented with a moderately severe haemolytic anaemia. The findings in the patient and her family from which this diagnosis was arrived at are discussed. Although this is the first report of this condition in this country it is pointed out that one may see more such cases in the future if one is aware of this condition since Hb E, alpha-thalassaemia and Hb CoSp all occur at significant frequencies in this country.
    Matched MeSH terms: Thalassemia/blood; Thalassemia/genetics*
  10. Thalassaemia in Singapore: problems and solutions
    Wong HB
    Family Practitioner, 1984;7:75-86.
    Matched MeSH terms: Thalassemia
  11. Problems in prenatal diagnosis
    Wong HB
    Family Practitioner, 1984;7:87-92.
    Matched MeSH terms: Thalassemia
  12. Clinical aspects and genetic heterogeneity of haemoglobin H syndromes in West Malaysia
    George-Kodiseri E, Wong HB
    Family Physician, 1990;2:43-46.
    Clinically, Hb H disease presents as alpha thalassaemia intermedia. The majority have a clinical course of well compensated chronic haemolytic anaemia with exacerbations caused by oxidant haemopoietic stress. Haematological and DNA studies have identified the common molecular defects associated with Hb H disease in West Malaysia. Patients were shown to have α0 - thalassaemia of the South-East Asian type (--/SEA) in association with α+ thalassaemia or with Hb Constant Spring. In a study of 32 patients with Hb H disease, 50% were shown to have α+ thalassaemia (-α 3.7, 87.5%; -α 4.2, 12.5%). Growth and development were normal in all patients, and cholelithiasis was seen in 50% of the patients with the non-deletional type of Hb H disease. Comparisons of the clinical parameters (the necessity of blood transfusion, thalassaemia facies), haemoglobin and bilirubin levels show that the non-deletional type of Hb H disease in West Malaysia is associated with a more severe clinical state than the deletional type.
    Matched MeSH terms: Thalassemia; alpha-Thalassemia
  13. β-Thalassemias
    Thong MK, Ngim CF
    N Engl J Med, 2021 Jun 03;384(22):2165.
    PMID: 34077655 DOI: 10.1056/NEJMc2105064
    Matched MeSH terms: alpha-Thalassemia*
  14. A link between long non-coding RNA (lncRNA) and thalassaemia: A review
    Sumera A, Radhakrishnan AK, Aziz Baba A, George E
    Malays J Pathol, 2020 Dec;42(3):323-332.
    PMID: 33361713
    The long non-coding RNAs (lncRNAs) are the most prevalent and functionally diverse member of the non-coding RNA (ncRNA). The lncRNA has previously been considered to be a form of transcriptional "noise" but recent studies have found that the lncRNA to be associated with various disease conditions. It has also been found to play important roles in various physiological processes such as haemopoiesis, where lncRNA is reported to act as a fine-tuner of this very important process. To date, the effects of dysregulated lncRNA in thalassaemia has not been fully explored. This review article focuses on the possible roles of dysregulated lncRNAs in the pathogenesis of thalassaemia.
    Matched MeSH terms: Thalassemia/genetics*
  15. Fulltext Genotype-phenotype association of Hbe/β thalassemia disease and the role of genetic modifiers
    HanafI S, Abdullah WZ, Adnan RA, Bahar R, Johan MF, Azman NF, et al.
    Malaysian Journal of Paediatrics and Child Health, 2016;22(1):1-16.
    MyJurnal
    HbE/β-thalassemia is the most common severe form of thalassemia particularly in SEA region including Malaysia and globally, it comprised of a significant severe form of β-thalassemia disorder. It has various clinical manifestations ranging from very mild anemia to severe manifestation similar to beta thalassemia major. Many different syndromes are observed in HbE/β-thalassemia. Several genetic modifiers have been reported to play important role in contributing to phenotypic variability. The true reasons underlying this phenotypic variability remain unknown. The most reliable predictive factor of the disease phenotype is the nature of the beta globin gene mutation itself. However, the degree of severity is also believed to be affected by other genetic modifiers. For instance, high HbF level ameliorates the clinical severity of β thalassemia patients. Therefore, identification of these genetic modifiers is very important. The association of severe clinical manifestation and the specific β-globin gene mutation has been known. But the wide scope and other potential predictors have been only recently appreciated. This review therefore aimed to reveal the potential genetic modifiers of HbE/βthalassemia patients based on the previous reported studies. A better understanding on the mechanisms underlying the variety of phenotypes of this disease may lead to the direction for a better future management plans. This also promotes “personalized medicine” in patient care.
    Matched MeSH terms: beta-Thalassemia*
  16. A commentary on molecular basis of transfusion dependent beta-thalassemia major patients in Sabah
    Setianingsih I
    J Hum Genet, 2014 Apr;59(4):173.
    PMID: 24500683 DOI: 10.1038/jhg.2013.142
    Matched MeSH terms: beta-Thalassemia/genetics*; beta-Thalassemia/therapy*
  17. Fulltext Genotype-phenotype diversity of beta-thalassemia in Malaysia: treatment options and emerging therapies
    George E, Ann TJ
    Med J Malaysia, 2010 Dec;65(4):256-60.
    PMID: 21901940 MyJurnal
    The haemoglobinopathies and thalassemias represent the most common inherited monogenic disorders in the world. Beta-thalassaemia major is an ongoing public health problem in Malaysia. Prior to 2004, the country had no national policy for screening and registry for thalassemia. In the absence of a national audit, the true figure of the extent of thalassemia in the Malaysian population was largely presumptive from micro-mapping studies from various research workers in the country. The estimated carrier rate for beta-thalassemia in Malaysia is 3.5-4%. There were 4768 transfusion dependent thalassemia major patients as of May 2010 (Data from National Thalassemia Registry).
    Matched MeSH terms: beta-Thalassemia/genetics; beta-Thalassemia/therapy*
  18. Fulltext Thalassemia among blood donors at the Hospital Universiti Sains Malaysia
    Rosline H, Ahmed SA, Al-Joudi FS, Rapiaah M, Naing NN, Adam NA
    Southeast Asian J. Trop. Med. Public Health, 2006 May;37(3):549-52.
    PMID: 17120978
    The aim of this study was to screen and identify the types of thalassemia among blood donors at the Hospital Universiti Sains Malaysia (HUSM). Thalassemia screening was performed by hemoglobin electrophoresis. A total number of 80 blood samples were obtained from donors at the Transfusion Medicine Unit, HUSM. The ethnic origins of the donors were Malays (n=73, 91.3%) and non-Malays (n=7, 8.75%). Males comprised 88.1% of the donors. Thalassemia was detected in 16.25% (n=13) of the blood donors. Of those with thalassemia, 46.2% (6/13) were anemic. Microcytosis and hypochromia were detected in 84.6% (n=l1) and 84.6% (n=l1) of these donors, respectively. The types of thalassemias detected were Hb E, 11.25% (n=9/80) and beta thalassemia trait, 5% (n=4/80). Among the thalassemias detected, the Hb E hemoglobinopathy was comprised of Hb E/ alpha-thalassemia (38.5%: n=5), Hb E /beta-thalassemia (23.1%: n=3), Hb E trait (7.6%: n=1) and beta-thalassemia (30.8%: n=4). In conclusion, screening for thalassemia trait should be included as part of a standard blood testing before blood donation. Further studies are required to look at the effects of donated thalassemic blood.
    Matched MeSH terms: Thalassemia/blood*; Thalassemia/classification; Thalassemia/diagnosis
  19. Fulltext Beta-thalassemia major in Malaysia, an ongoing public health problem
    George E
    Med J Malaysia, 2001 Dec;56(4):397-400.
    PMID: 12014756
    Matched MeSH terms: beta-Thalassemia/genetics*; beta-Thalassemia/epidemiology*; beta-Thalassemia/therapy
  20. Fulltext Antibody to hepatitis C virus in thalassemia patients
    Isahak I, Baharin R, Hakim AS, Abu Bakar M, George E
    Malays J Pathol, 1993 Jun;15(1):85-7.
    PMID: 8277796
    A specific enzyme immunoassay (EIA) for the diagnosis of hepatitis C virus (HCV) infection was developed by recombinant DNA technology. Abbott HCV EIA was used to detect antibody to HCV (anti-HCV) in non-transfused and multiply-transfused thalassemia patients. None of 11 non-transfused patients had anti-HCV but 3 of 52 (5.8%) multiply-transfused patients had anti-HCV. This study showed that the prevalence rate of HCV infection is low in thalassemia patients. However, it is still important to identify hepatitis C virus infected patients in high risk groups because hepatitis C is associated with chronic hepatitis, cirrhosis and hepatocellular carcinoma.
    Matched MeSH terms: Thalassemia/blood; Thalassemia/microbiology*; Thalassemia/therapy
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