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  1. Fulltext Thalassaemia screening among students in a secondary school in Ampang, Malaysia
    Jameela S, Sabirah SO, Babam J, Phan CL, Visalachy P, Chang KM, et al.
    Med J Malaysia, 2011 Dec;66(5):522-4.
    PMID: 22390120 MyJurnal
    Thalassaemia is a common disorder in Malaysia. It is estimated that 4.5% of the population are carriers for beta- or alpha- thalassaemias. We set out to screen Form 4 students aged between 15 and 16 years old in a national school, for thalassaemia in March 2008. Written consent was obtained from 310 students. The carrier rate for the common thalassaemia syndromes was 6.8% (2.9% for beta-thalassaemia, 2.6% for HbE and 1.3% for two-gene deletion for alpha-thalassaemia). Carriers for beta-thalassaemia and two-gene deletion for alpha-thalassaemia were more common in the Chinese (4.3% and 1.4% respectively) while heterozygous HbE was more common in the Malays (3.8%). The laboratory cost of screening one student was RM 45 and the total number of man-hours spent in this screening activity was 600. This screening exercise showed that thalassaemia carriers are common among the Chinese and Malays and it is feasible to carry out a screening programme for secondary school students.
    Matched MeSH terms: Thalassemia/epidemiology*
  2. Molecular study and genotype/phenotype correlation of β Thalassemia in Malaysia
    Sivalingam M, Looi ML, Zakaria SZ, Hamidah NH, Alias H, Latiff ZA, et al.
    Int J Lab Hematol, 2012 Aug;34(4):377-82.
    PMID: 22335963 DOI: 10.1111/j.1751-553X.2012.01405.x
    INTRODUCTION: To study the ß-gene mutations spectrum, the genotype/phenotype correlation, the modulatory effect of co-inherited factors such as α-gene mutations and of Xmn1 polymorphism in a large cohort of Malaysian patients.
    METHODS: A total of 264 cases clinically diagnosed as Thalassemia major (TM) (111), Thalassemia intermedia (21), HbE-β Thalassemia (131), and 1 HbE homozygous were studied. The detection of α and ß gene mutations and characterization of Xmn1 polymorphism were performed by multiplex PCR, amplification refractory mutation system (ARMS), DNA sequencing, and restriction fragment length polymorphism (RFLP)-PCR.
    RESULTS: A total of 19 ß Thalassemia mutations were characterized. CD26 and CD41/42 were the most common found in the Malay and Chinese population, respectively. The sensitivity of the clinical diagnosis for β TM, thalassemia intermedia, and HbE/β thalassemia was 94.0%, 15.2%, and 89.2%, respectively. Patients with Xmn1 heterozygosity [+/-] required less frequent transfusion compared with those without the polymorphism. Co-inheritance of α-thalassemia alleviates the severity of HbE-β thalassemia in our cohort.
    CONCLUSION: Molecular analysis should be used for a better diagnosis and management of β thalassemia.
    Matched MeSH terms: beta-Thalassemia/genetics*
  3. Fulltext A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for alpha(+)-thalassaemia and a mutation in alpha1 globin gene CD59 (GGC --> GAC)
    George E, Jama T, Azian AS, Rahimah A, Zubaidah Z
    Med J Malaysia, 2009 Dec;64(4):321-2.
    PMID: 20954559
    A rare case of thalassaemia-intermedia involving a non-deletion alpha thalassemia point mutation in the alpha1-globin gene CD59 (GGC --> GAC) and a deletion alpha+ (-alpha(3.7)) thalassaemia in which use of high performance liquid chromatography (HPLC) C-gram Hb subtype profile and DNA molecular analysis helped establish the diagnosis.
    Matched MeSH terms: alpha-Thalassemia/genetics*
  4. 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: alpha-Thalassemia; beta-Thalassemia
  5. A single, large deletion accounts for all the beta-globin gene mutations in twenty families from Sabah (North Borneo), Malaysia. Mutation in brief no. 240. Online
    Thong MK, Rudzki Z, Hall J, Tan JA, Chan LL, Yap SF
    Hum Mutat, 1999;13(5):413.
    PMID: 10338100 DOI: 10.1002/(SICI)1098-1004(1999)13:5<413::AID-HUMU15>
    Beta-thalassemia major is one of the commonest genetic disorders in South-East Asia. The spectrum of beta-thalassemia mutations in the various ethnic sub-populations on the island of Borneo is unknown. We studied 20 Dusun children from the East Malaysian state of Sabah (North Borneo) with a severe beta-thalassemia major phenotype, using a combination of Southern analysis, polymerase chain reaction analysis and direct sequencing. We found the children to be homozygous for a large deletion, which has a 5' breakpoint at position -4279 from the cap site of the beta-globin gene (HBB) with the 3' breakpoint located in a L1 family of repetitive sequences at an unknown distance from the beta-globin gene. This was similar to a recent finding of a large deletion causing beta-thalassemia first described in unrelated beta-thalassemia heterozygotes of Filipino descent. This report describes the first 20 families with homozygosity of the deletion causing a severe phenotype. It provides the first information on the molecular epidemiology of beta-thalassemia in Sabah. This finding has implications for the population genetics and preventative strategies for beta-thalassemia major for nearly 300 million individuals in South-East Asia.
    Matched MeSH terms: beta-Thalassemia/genetics*
  6. Fulltext Providing a cure for beta thalassaemia major
    Chan LL, Lin HP, Ariffin WA, Ariffin H
    Med J Malaysia, 2001 Dec;56(4):435-40.
    PMID: 12014762
    The current treatment options for beta thalassaemia major patients include conservative treatment with blood cell transfusions and iron chelation or stem cell transplantation. Regular blood transfusions inevitably lead to multi-organ haemosiderosis and are attended by risks of blood-borne infections. Results from stem cell transplantation are good and suggest that this should be offered as first line therapy when a matched sibling donor is available because the patient is often cured and able to live a normal life. Of 38 Malaysian children who underwent bone marrow or cord blood transplantations using matched sibling donors, 29 (76%) are now cured.
    Matched MeSH terms: beta-Thalassemia/therapy*
  7. Fulltext Fatal intra-cranial haemorrhage in 2 cases of beta-thalassaemia major
    Lee KF
    Med J Malaysia, 1995 Mar;50(1):110-3.
    PMID: 7752964
    Spontaneous intracranial haemorrhage is one of the cerebrovascular complications in beta-thalassaemia major patients. This is a report of 2 cases of fatal intracranial haemorrhage. Their ages were 12 and 7 years respectively, and they had been receiving regular blood transfusion for the past 3 and 2 years respectively. They developed acute onset of headache, loss of consciousness and convulsions at 5 and 2 days respectively after their last blood transfusion. C-T scan of the brain showed massive intracranial haemorrhage with extension into the ventricles. The spontaneous intracranial haemorrhages in these two cases was probably multi-factorial in origin. The predisposing factors included recent blood transfusion, prolonged prothrombin time and partial thromboplastin time as well as reduced platelet count.
    Matched MeSH terms: beta-Thalassemia/complications*
  8. Fulltext First trimester prenatal diagnosis of beta-thalassaemia following chorionic villus sampling
    Chandran R, Ainoon O, Anson I, Anne J, Cheong SK
    Med J Malaysia, 1993 Sep;48(3):341-4.
    PMID: 8183149
    DNA analysis for the diagnosis of beta-thalassaemia is a relatively new technique in Malaysia. This, combined with chorionic villus sampling, has enabled us to offer prenatal diagnosis in the first trimester for this common condition. To the best of our knowledge, this has not hitherto been reported in Malaysia.
    Matched MeSH terms: beta-Thalassemia/diagnosis*
  9. Fulltext The management of beta-thalassemia in an urban district hospital
    Lyn PCW, Teh HC, Mulvey RF
    Med J Malaysia, 1985 Mar;40(1):3-10.
    PMID: 3831730
    This paper is based on the beta-thalassaemia programme at the Duchess of Kent Hospital, Sandakan, Sabah. It seeks to show that a hypertransfusion regimen which improves the quality of life of children with thalassaemia major can be practised in district and general hospitals if there is an organised blood recruitment programme, at least at departmental level. Such a programme reduces the demand on the hardpressed hospitals' blood banks. Frequent and regular transfusions can be given with minimal interference with the school and family life of affected children and reduces immeasurably the social, emotional and financial strain on the affected families. There is also an urgent need to define the magnitude of the problem of beta-thalassaemia through population studies so that genetic counselling can be given and adequate resources can be allocated to improve the quality of life of affected patients.
    Matched MeSH terms: Thalassemia/therapy*
  10. Fulltext Prenatal diagnosis of alpha thalassaemia major following cordocentesis--a case report
    Raman S, Kuppuvelumani P, Menaka H
    Med J Malaysia, 1991 Mar;46(1):110-3.
    PMID: 1836033
    The relevant investigations and management of a case of alpha-thalassaemia major suspected antenatally is discussed. The value of ultrasonically guided cordocentesis in the definite diagnosis of this condition is emphasised in the management of this pregnancy. We believe that this is the first time such a procedure has been done in this country.
    Matched MeSH terms: Thalassemia/diagnosis*
  11. Small haemoglobin components accompanying Hb Bart's in newborns
    Lie-Injo LE
    Med J Malaya, 1972 Dec;27(2):120-4.
    PMID: 4268037
    Matched MeSH terms: Thalassemia/blood
  12. Alpha-hemoglobin-stabilizing protein (AHSP): a modulatory factor in β-thalassemia
    Che Yaacob NS, Islam MA, Alsaleh H, Ibrahim IK, Hassan R
    Int J Hematol, 2020 Mar;111(3):352-359.
    PMID: 31894534 DOI: 10.1007/s12185-019-02806-8
    Hemoglobin (Hb) is an iron-containing metalloprotein that transports oxygen molecules from the lungs to the rest of the human body. Among the different variants of Hb, HbA1 is the most common and is composed of two alpha (αHb) and two beta globin chains (βHb) constructing a heterotetrameric protein complex (α2β2). Due to the higher number of AHSP genes, there is a tendency to produce approximately twice as much of α subunit as β subunit. Therefore, there is a chance of presenting excess α subunit leftover in human blood plasma; excess subunits subsequently bind with each other and aggregates β-thalassemia occurs due to lack of or reduced numbers of βHb subunit. Alpha-hemoglobin-stabilizing protein (AHSP) is a scavenger protein which acts as a molecular chaperon by reversibly binding with free αHb forming a complex (AHSP-αHb) that prevents aggregation and precipitation preventing deleterious effects towards developing serious human diseases including β-thalassemia. Clinical severity worsens if mutations in AHSP gene co-occur in patients with β-thalassemia. Considering the mechanism of action of AHSP and its contribution to ameliorating β-thalassemia severity, it could potentially be used as a modulatory agent in the treatment of β-thalassemia.
    Matched MeSH terms: beta-Thalassemia/genetics*
  13. Fulltext Screening for thalassaemia among group of students of a higher institution – our experience
    Norlelawati, A.T., Siti Hadijah, M., Siti Nor Haiza, H., Rusmawati, I., Abdul Wahab, J., Naznin, M., et al.
    International Medical Journal Malaysia, 2011;10(1):3-6.
    MyJurnal
    Introduction: Thalassaemia is an inherited blood disorder and is a significant public health alarm in Malaysia with many not knowing they are carriers of this haemoglobin disorders. Materials and methods: This study conducted a one off collection of blood samples from 72 Malays students of International Islamic University Malaysia (IIUM) in Kuantan. Blood samples were subjected to conventional haemoglobin analyses that include full blood count and picture, HPLC, Haemoglobin electrophoresis and H-inclusion test. All samples were also genotyped for alpha thalassaemia–1 of Southeast Asia (a-Thal1SEA). Result: There were 17(23.6%) students who were diagnosed as thalassaemia carriers. Out of this, four (5.5 %) and six (8.3 %) students were presumptive β-thalassaemia trait and Haemoglobin-E trait as determined by the HPLC assay respectively. Nine (12.5%) students were genotyped a-Thal1SEA among whom two were also β-thalassaemia carriers. All thalassaemia cases had MCH of < 27pg. Nonetheless, two out of six Haemoglobin-E trait and three out of nine a-Thal1SEA carrier had MCV value of >80fL. Two out of four (50%) presumptive β -thalassaemia trait and one out of six (17%) students of presumptive Haemoglobin-E trait had family history of thalassaemia respectively. Conclusion: The high occurrence of the three common types of thalassaemia carrier (β, Hb-E and a-Thal1SEA thalassaemia) in our small group of subjects could be due to better participation of students who had family history of thalassaemia. The study reaffirmed the importance of molecular study for detection of alpha-thalassaemia and the use of MCH value of
    Matched MeSH terms: alpha-Thalassemia; beta-Thalassemia
  14. Fulltext Thalassaemia screening among healthy blood donors in Hospital Tengku Ampuan Rahimah, Klang
    Irmi Elfina, R., Ezalia, E., Elizabeth, G., Wan Hayati, M.Y, Norhanim, A., Wahidah, A., et al.
    Medicine & Health, 2014;9(1):44-52.
    MyJurnal
    Thalassaemia screening programme has been conducted in Malaysia since 2004. The aim of the programme was to reduce the burden of the disease by identifying thalassaemia carriers. However, the response towards the screening activities was unsatisfactory as there was lack of public awareness against the importance of thalassaemia screening. An alternative approach is to screen blood donors. The purpose of this study was to observe the prevalence of thalassaemia carriers among healthy blood donors. Seven hundred and thirty eight healthy blood donors were screened in Hospital Tengku Ampuan Rahimah, Klang from July to September 2010 using cation-exchange high performance liquid chromatography (HPLC). Cases with haemoglobin variants were further analyzed by gel electrophoresis at alkaline pH. Result shows that the blood donors consisted of 413 Malays (56%), 162 Indians (22%), 148 Chinese (20%) and 15 others (2%). There were 19 (2.6%) individuals with haemoglobin E trait, six (0.8%) with co-inheritance of haemoglobin E and αα- thalassaemia and five (0.7%) with β-thalassaemia trait. Haemoglobin Constant Spring and haemoglobin A2 prime were observed in two (0.3%); and Haemoglobin Lepore and alpha chain variant in one (0.2%). αα-thalassaemia and normal haemoglobin A2 β-thalassaemia could not be excluded in 190 cases (26%), as they required deoxyribonucleic acid (DNA) studies for identification. Thalassaemia screening in blood donors is more feasible and effective. Therefore, a wider scale population screening including blood donors could benefit the existing thalassaemia screening programme in Malaysia.
    Matched MeSH terms: Thalassemia; beta-Thalassemia
  15. Haemoglobin H disease and pregnancy in a Malaysian woman
    Ong HC, White JC, Sinnathuray TA
    Acta Haematol., 1977;58(4):229-33.
    PMID: 410224 DOI: 10.1159/000207832
    A case of haemoglobin H (HbH) disease associated with pregnancy is presented and discussed in the light of reports in the literature. The variable symptomatology is commented upon, although mild to moderate chronic haemolytic anaemia seems to be a constant feature. The roles of folic acid supplements and of splenectomy; the avoidance of oxidant drugs, and the mode of inheritance in HbH disease are briefly commented upon. Available reports indicate that HbH disease probably has no adverse effect on pregnancy. However, the association of the two conditions is uncommon, and reports are too few, therefore, to allow definite conclusions on the outcome in all instances.
    Matched MeSH terms: alpha-Thalassemia*
  16. Sacroiliac gout associated with hemoglobin E and hypersplenism
    Lambeth JT, Burns-Cox CJ, MacLean R
    Radiology, 1970 May;95(2):413-5.
    PMID: 5439452 DOI: 10.1148/95.2.413
    Two patients with gout associated with the presence of an abnormal hemoglobin, Hb E, and hypersplenism are presented. Very large sclerotic-rimmed cystic erosions in the sacroiliac joints of both patients are unusual but characteristic of the skeletal lesions of gout. The hyperuricemia may be the result of the disordered nucleic acid metabolism associated with hemoglobin abnormality. The development of hypersplenism very likely accelerated this process and resulted in the clinical and radiographic manifestations of severe gout.
    INDEX TERMS: Blood, diseases • Blood, proteins • globin and Hemoglobin Compounds • Sacroiliac Joint trophy
    Study site: Hospital Gombak, Selangor, Malaysia
    Matched MeSH terms: Thalassemia/complications*
  17. Chronic haemolytic anaemia; a report of three cases of Cooley's anaemia and five cases of acholuric jaundice seen in Malaya with a discussion on the differential diagnosis
    FIELD CE, TAN EE
    Med J Malaya, 1955 Sep;10(1):60-82.
    PMID: 13287496
    Matched MeSH terms: beta-Thalassemia/diagnosis*
  18. Fulltext Cephalometric aspects of thalassemic children in the Indian subcontinent: A cross-sectional study
    Samba AA, Bhoopathi PH, Sundaram RM, Patil AK, Gupta BV, Rao VT
    Indian J Dent Res, 2018 6 15;29(3):286-290.
    PMID: 29900910 DOI: 10.4103/ijdr.IJDR_32_17
    Objectives: To compare the cephalometric characteristics of thalassemic children in the Indian subcontinent with the controls, matched for sex and dental age.

    Methodology: A total of 31 thalassemic children were a part of the study. Cephalometric readings were recorded for the study and the control group.

    Results: Within the Group I stage, the anterior cranial base length was 68.40±2.93 mm, shorter when compared to the control group. In the Group II stage, the maxillary/mandibular angle was 31.58° for the case group and the mandibular length was shorter in comparison to the controls. In the Group III stage, the SNB angle was 76.42°, lesser than the control group. A relative maxillary prognathism of 9.88 mm and 12.85 mm was observed in thalassemic males and females respectively through the Wiley's analysis.

    Conclusion: The overall picture depicted a retruded position of the maxilla and a retrognathic mandible within the study group. A class II profile has also been observed among the study subjects.

    Matched MeSH terms: Thalassemia/complications*
  19. Fulltext Pregnancy outcomes in women with non-transfusion dependent thalassaemia (NTDT): A haematology centre experience
    Lee BS, Sathar J, Sivapatham L, Lee LI
    Malays J Pathol, 2018 Aug;40(2):149-152.
    PMID: 30173232 MyJurnal
    INTRODUCTION: Non-transfusion dependent thalassaemia (NTDT) is a term used for thalassaemia patients who do not require lifelong regular transfusions for survival. Pregnancy in these women, whether spontaneous or through assisted reproductive technology, represents a challenge for the physician.
    MATERIALS AND METHODS: The maternal and foetal outcomes of patients with NTDT followed up in a tertiary haematology centre over 6 months period were studied. A total of 36 pregnancies in 26 pregnant women with NTDT were analysed.
    RESULTS: Among these women, all of the pregnancies resulted in successful delivery of singleton live-born neonates. There were four clinically distinct forms of NTDT among these women which include Hb E/β-thalassemia (mild and moderate forms), HbH disease, HbH-Constant Spring, and homozygous δβ-thalassemia. No blood transfusion was needed in 15 of the 36 pregnancies (41.6%). The lowest mean Hb level in which no blood transfusion was given was 8.21 g/dL. The mean of packed-cell units received during pregnancy was 6.95 units per pregnancy. There was no worsening of serum ferritin observed during pregnancy with mean serum ferritin pre- and post-pregnancy of 409.35 ug/L and 418.18 ug/L respectively. The mean gestational age at delivery was 38.6 weeks with no preterm delivery reported. The mean foetal birth weight was 2729 grams. There was no intrauterine growth restriction (IUGR) or congenital malformation. There was a case of small for gestational age (SGA) and a case of oligohydramnios.
    CONCLUSION: This study showed that pregnancy was possible, safe and has a favourable outcome in patients with NTDT with multidisciplinary care.
    Matched MeSH terms: Thalassemia/complications*
  20. Complementary and alternative medicine (CAM) disclosure to health care providers: A qualitative insight from Malaysian thalassemia patients
    Ismail WI, Ahmad Hassali MA, Farooqui M, Saleem F, Roslan MNF
    Complement Ther Clin Pract, 2018 Nov;33:71-76.
    PMID: 30396630 DOI: 10.1016/j.ctcp.2018.06.004
    BACKGROUND AND PURPOSE: This study investigated the disclosure of complementary and alternative medicine (CAM) use to health care providers by Malaysian thalassemia patients.

    METHODS: The semi-structured interviews were audio taped, transcribed verbatim, and translated into English.

    RESULTS: Thematic analysis identified four themes: 1) reason for CAM disclosure, 2) attempt to disclose CAM, 3) withdrawal from CAM disclosure, and 4) non-disclosure of CAM use. The reason for patients' disclosure of CAM use to healthcare providers is because they wanted to find information about CAM and were afraid of the interaction between the conventional medicine and CAM. Patients also disclosed the use of CAM because they were not satisfied with the conventional medicine that had caused them harm.

    CONCLUSION: Effective communication between patients and health care providers is important, especially for patients who are undergoing conventional thalassemia treatment, for fear that there is an interaction between conventional treatment and CAM use.

    Matched MeSH terms: Thalassemia/therapy*
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