MyMedR

Displaying publications 1 - 20 of 40 in total

Abstract:

Sort:

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/therapy*
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/therapy*
Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah

Teh LK, George E, Lai MI, Tan JA, Wong L, Ismail P

J Hum Genet, 2014 Mar;59(3):119-23.
PMID: 24369358 DOI: 10.1038/jhg.2013.131

Beta-thalassemia is one of the most prevalent inherited diseases and a public health problem in Malaysia. Malaysia is geographically divided into West and East Malaysia. In Sabah, a state in East Malaysia, there are over 1000 estimated cases of β-thalassemia major patients. Accurate population frequency data of the molecular basis of β-thalassemia major are needed for planning its control in the high-risk population of Sabah. Characterization of β-globin gene defects was done in 252 transfusion dependent β-thalassemia patients incorporating few PCR techniques. The study demonstrates that β-thalassemia mutations inherited are ethnically dependent. It is important to note that 86.9% of transfusion-dependent β-thalassemia major patients in Sabah were of the indigenous population and homozygous for a single mutation. The Filipino β(0)-deletion was a unique mutation found in the indigenous population of Sabah. Mutations common in West Malaysia were found in 11 (4.3%) patients. Four rare mutations (Hb Monroe, CD 8/9, CD 123/124/125 and IVS I-2) were also found. This study is informative on the population genetics of β-thalassemia major in Sabah.

Matched MeSH terms: beta-Thalassemia/therapy*
Fulltext Endocrine complications in transfusion dependent thalassaemia in Penang Hospital

Ong CK, Lim SL, Tan WC, Ong EE, Goh AS

Med J Malaysia, 2008 Jun;63(2):109-12.
PMID: 18942294 MyJurnal

Frequent blood transfusions can lead to iron overload which may result in several endocrine complications especially in the absence of adequate chelation therapy. The objectives of this study are to determine the prevalence of endocrine complications in transfusion dependent thalassaemia patients and the correlation of endocrine complications with the degree of iron chelation. This retrospective study looked at cases of adult patients with transfusion dependent thalassaemia treated in the Haematology Unit, Penang Hospital. Of the 25 transfusion dependent thalassaemia patients, there were 10 male and 15 female patients respectively with almost equal number of Malay and Chinese patients (13 and 12 patients respectively). Short stature was seen in 36.0% of our patients. In our cohort, 12 patients had delayed puberty (male 70.0% and female 33.3%). Prevalence of osteoporosis was 36.0%. Hypogonadism was noted in 40.0% of males and 46.7% of females. 53.4% of the female population had menstrual abnormalities with prevalence of primary and secondary amenorrhoea at 26.7% each. The prevalence of other endocrinopathies was much lower: 8.0% had diabetes mellitus and only one patient had hypocortisolism. Iron chelation appeared insufficient in our study population. The high frequency of endocrine complications noted in our study supports the rationale for regular follow-up of transfusion dependent thalassaemic patients to ensure early detection and timely treatment of associated complications.

Matched MeSH terms: Thalassemia/therapy
Evaluation of two types of leukocyte removal filters on transfusion dependent thalassaemics

Jamal R, Mazeni NR, Hussin H

Malays J Pathol, 2000 Dec;22(2):79-83.
PMID: 16329539

The advent of leukocyte filters has enabled effective removal of leukocytes from certain blood products thus avoiding many adverse effects of blood transfusion. Many different materials have been incorporated into these filters to achieve >95% leukocyte removal. In this study we evaluated the efficacy of leukocyte removal of two different filters, using actual bedside transfusion settings involving patients with transfusion dependent thalassaemia. Fifty-one transfusion events were randomised to use either a polyurethane filter or a non-woven polyester filter. We found that the two filters achieved 98.4% and 96.2% leukocyte removal respectively (p = 0.022). We also found no significant correlation between pre-filtration white blood cell count and the volume transfused with the efficacy of leukodepletion. No untoward events or transfusion reactions were observed during the study.

Matched MeSH terms: Thalassemia/therapy*
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*
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/therapy
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/therapy
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*
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*
Iron chelation therapy in the management of thalassemia: the Asian perspectives

Viprakasit V, Lee-Lee C, Chong QT, Lin KH, Khuhapinant A

Int J Hematol, 2009 Nov;90(4):435-445.
PMID: 19862602 DOI: 10.1007/s12185-009-0432-0

Worldwide, thalassemia is the most commonly inherited hemolytic anemia, and it is most prevalent in Asia and the Middle East. Iron overload represents a significant problem in patients with transfusion-dependent beta-thalassemia. Chelation therapy with deferoxamine has traditionally been the standard therapeutic option but its usage is tempered by suboptimal patient compliance due to the discomfort and demands associated with the administration regimen. Therefore, a great deal of attention has been focused on the development of oral chelating agents. Deferiprone, even though available for nearly two decades in Asia with recent encouraging data on cardiac iron removal and long-term efficacy, has serious adverse effects including agranulocytosis and neutropenia which has impeded it from routine clinical practice. A novel oral chelator; deferasirox is effective throughout a 24 h dosing period and both preclinical and clinical data indicate that it successfully removes both hepatic and cardiac iron. In Asia, optimal management of severe thalassemia patients and the availability and access to oral iron chelators still presents a major challenge in many countries. In this regard, the development and implementation of consensus guidelines for management of Asian patients with transfusion-dependent thalassemia will be a major step towards improving and maintaining the continuity of patient care.

Matched MeSH terms: Thalassemia/therapy*; beta-Thalassemia/therapy
Post-transfusion hypertension and seizure in congenital hemolytic anemia: a case report and literature review

Ngim CF, Ng CS, Lai NM

J Trop Pediatr, 2014 Jun;60(3):253-6.
PMID: 24473404 DOI: 10.1093/tropej/fmu003

A rare syndrome of hypertension, seizures and intracranial bleed has been reported among patients with congenital hemolytic anemia who underwent multiple blood transfusions. We report this syndrome in a 12-year-old Malay girl with hemoglobin E-beta-thalassemia, who underwent intensive transfusion and subsequently had headache, visual loss, severe hypertension and seizures. A comprehensive literature review revealed 30 patients with this syndrome, of whom 15 had intracranial bleed and 12 among these 15 died. A less-intensive transfusion regimen among patients with chronic hemolytic anemia and prompt detection and management of hypertension may prevent this potentially fatal syndrome.

Matched MeSH terms: Thalassemia/therapy*
Fulltext Thalassaemia: a study on the perception of patients and family members

Wahab IA, Naznin M, Nora MZ, Suzanah AR, Zulaiho M, Faszrul AR, et al.

Med J Malaysia, 2011 Oct;66(4):326-34.
PMID: 22299552 MyJurnal

Marked improvement in the management of thalassaemia has not been matched by progress in psychosocial rehabilitation as thalassaemia continues to pose challenges to patients and their family members. Few studies have been carried out in Malaysia to look at such issues. This study is therefore to explore the concerns, beliefs and feelings about thalassaemia. It was conducted in the year 2009 over 7 months on "focus groups", in patients aged 8-22 years and parents attending Paediatric Clinic of Tengku Ampuan Afzan Hospital, Kuantan, Pahang. Results showed that concerns and adverse impact were related to lower grades in education, poor self-image, less chance of employment, marriage, financial burden and social integration. Compliance to subcutaneous iron chelator was poor. There were various concerns related to blood transfusion therapy. It is evident that thalassaemia greatly affects the psychosocial dimensions and a more structured long term psychosocial support is needed to improve quality of life of patients.

Study site: Paediatric Clinic of Tengku Ampuan Afzan Hospital, Kuantan, Pahang.

Matched MeSH terms: Thalassemia/therapy
Fulltext Growth velocity in transfusion dependent prepubertal thalassemia patients: results from a thalassemia center in Malaysia

Hamidah A, Arini MI, Zarina AL, Zulkifli SZ, Jamal R

Southeast Asian J. Trop. Med. Public Health, 2008 Sep;39(5):900-5.
PMID: 19058587

Growth impairment is commonly seen in children with thalassemia despite regular blood transfusions and desferrioxamine treatments. We investigated the growth velocity of 26 prepubertal patients with beta-thalassemia or HbE-beta thalassemia who were transfusion dependent aged between 2 and 13 years. The prevalence of impaired growth velocity (ie, growth velocity less than the third percentile) amongst the transfusion dependent prepubertal thalassemics was 57.7% compared to 19.2% in the control group. The mean height velocity of the thalassemics was 11.1% less than controls but this difference was not statistically significant (4.23cm/year vs 4.76cm/year, p = 0.08). The mean serum ferritin level of the thalassemics with a height < 3rd percentile was higher compared to those with a height > 3rd percentile (4,567.0 vs 2,271.0, p = 0.01). Our study showed that there was a high prevalence of impaired growth velocity amongst our transfusion dependent prepubertal thalassemics. This highlights the problem of inadequate chelation therapy, and compliance with chelation therapy amongst our patients. This study emphasizes the importance of monitoring growth parameters and optimal iron chelation therapy in these patients.

Matched MeSH terms: beta-Thalassemia/therapy*
Fulltext Red cell immunization in multiply transfused Malay thalassemic patients

Noor Haslina MN, Ariffin N, Illuni Hayati I, Rosline H

Southeast Asian J. Trop. Med. Public Health, 2006 Sep;37(5):1015-20.
PMID: 17333748

The development of red blood cell (RBC) isoimmunization with alloantibodies and autoantibodies complicate transfusion therapy in multiply transfused thalassemia patients. Thus, the frequency, causes and prevention of these phenomena were studied among these patients. Clinical and serological data from 58 Malay multiply transfused thalassemic patients who sought treatment at Hospital University Sains Malaysia were collected and analyzed prospectively. Blood samples were subjected to standard blood bank procedures to screen for antibody and subsequent antibodies identification. All patients in our hospital received blood matched for only ABO and Rh (D) antigens. There were 46 (79.3%) patients with Hb E/beta thalassemia, 8 (13.8%) with beta thalassemia major, 3 (5.2%) with Hb H Constant Spring and 1 (1.7%) with Hb H disease. Overall, 8.6% of the patients had alloantibodies and 1.7% had autoantibodies. The alloantibodies identified were anti-E, anti-c, anti-K, anti-Jka, anti-N and anti-S. In conclusion, the transfusion of matched blood is essential for chronically multiply transfused patients in order to avoid alloimmunization. Considering the high frequency of anti E at our hospital, it is advisable to genotype patients and match the red cells for E antigens in multiply transfused thalassemia patients.

Matched MeSH terms: Thalassemia/therapy*
Cure of beta-thalassaemia major by umbilical cord blood transplantation--a case report of Malaysia's first cord blood transplantation

Chan LL, Lin HP

J Trop Pediatr, 1999 Aug;45(4):243-5.
PMID: 10467839

A 25-month-old boy with beta-thalassaemia major was presented with an opportunity for umbilical cord blood transplantation when his unborn sibling was diagnosed in utero to be a beta-thalassaemia carrier and also human leucocyte antigen compatible. A barely adequate amount of cord blood was collected at the birth of his sibling and infused into the patient after appropriate chemo-conditioning. Engraftment occurred without major complications. The subject is now alive and well 9 months post-transplant, thus marking our first success in umbilical cord blood transplantation.

Matched MeSH terms: beta-Thalassemia/therapy*
Fulltext Short stature and truncal shortening in transfusion dependent thalassemia patients: results from a thalassemia center in Malaysia

Hamidah A, Rahmah R, Azmi T, Aziz J, Jamal R

Southeast Asian J. Trop. Med. Public Health, 2001 Sep;32(3):625-30.
PMID: 11944728

One of the major complications in patients with transfusion dependent thalassemia is growth impairment secondary to iron overload. We studied the growth status in 66 patients with beta-thalassemia major and HbE-beta thalassemia who were transfusion dependent, aged from 2 to 24 years, and 66 controls matched for sex and age. The prevalence of short stature in transfusion-dependent thalassemics was 54.5% compared to 4.5% in control group (p<0.001). Short stature was more prevalent in those above the age of 10 years in this study group (83.3% vs 16.7%). Transfusion dependent thalassemics with short stature were found to have significantly lower mean standing height standard deviation scores (SDS), sitting height SDS and subischial leg length SDS values (p<0.001). There was also a significant difference between the mean sitting height SDS and the mean subischial leg length SDS in our thalassemics with short stature, suggesting that the short stature was due to disproportionate truncal shortening. Serum ferritin levels were significantly higher in transfusion dependent thalassemics who were short compared to those who were of normal height (p = 0.002). However, the mean pre-transfusion hemoglobin levels did not differ significantly between patients with short stature and those with normal height (p = 0.216). The prevalence of short stature also did not differ significantly between those with beta-thalassemia major and those with HbE-beta thalassemia (p = 0.32). This study highlighted the importance of providing optimal treatment in these patients, including monitoring of growth parameters and optimizing iron chelation therapy.

Matched MeSH terms: Thalassemia/therapy
Fulltext EQ-5D-3L health state utility values in transfusion-dependent thalassemia patients in Malaysia: a cross-sectional assessment

Shafie AA, Chhabra IK, Wong JHY, Mohammed NS

Health Qual Life Outcomes, 2021 Jan 07;19(1):10.
PMID: 33413416 DOI: 10.1186/s12955-020-01645-0

PURPOSE: There is a gap of information describing the health state utility values (HSUVs) of transfusion-dependent thalassemia (TDT) patients in Malaysia. These values are useful in the assessment of health-related quality of life (HRQoL), economic evaluations and provide guidance to disease management decisions. The objective of this study was to estimate and derive HSUVs associated with the treatment and complications of TDT patients in Malaysia using the EQ-5D-3L instrument.
METHODS: A cross-sectional survey using the EQ-5D-3L instrument was conducted between May to September 2018 across various public hospitals in Malaysia. Using a multi-stage sampling, patients diagnosed with TDT and receiving iron chelating therapy were sampled. The findings on the EQ-5D-3L survey were converted into utility values using local tariff values. A two-part model was used to examine and derive the HSUVs associated with the treatment and complications of iron overload in TDT.
RESULTS: A total of 585 patients were surveyed. The unadjusted mean (SD) EQ-5D-3L utility value for TDT patients were 0.893 (0.167) while mean (SD) EQ VAS score was 81.22 (16.92). Patients who had more than two iron overload complications had a significant decline in HRQoL. Patients who were on oral monotherapy had a higher utility value of 0.9180 compared to other regimen combinations.
CONCLUSION: Lower EQ-5D-3L utility values were associated with patients who developed iron overload complications and were on multiple iron chelating agents. Emphasizing compliance to iron chelating therapy to prevent the development of complications is crucial in the effort to preserve the HRQoL of TDT patients.

Matched MeSH terms: Thalassemia/therapy*
Severe thalassaemia intermedia: clinical problems in the absence of hypertransfusion

Mohamed N, Jackson N

Blood Rev, 1998 Sep;12(3):163-70.
PMID: 9745886

In many of the parts of the world where thalassaemia is common, the blood supply is inadequate or unsafe, and desferrioxamine is too expensive for routine use. We classify some patients as having 'severe thalassaemia intermedia', i.e. those with moderately severe thalassaemia who can survive without regular transfusions, but who are at risk of many complications which are reviewed here. These include bone deformity and fractures, extramedullary haemopoietic tumours, leg ulcers, autoimmune haemolysis and, especially after splenectomy, thromboembolism and infection. An increase in the quality and safety of the blood supply, and a cheaper and/or oral iron chelator, would enable more of these patients to be treated as thalassaemia major and have improved survival and quality of life.

Matched MeSH terms: Thalassemia/therapy*
Fulltext Craniofacial deformities in transfusion-dependent thalassemia patients in Malaysia: prevalence and effect of treatment

Toman HA, Hassan R, Hassan R, Nasir A

Southeast Asian J. Trop. Med. Public Health, 2011 Sep;42(5):1233-40.
PMID: 22299450

This comparative cross-sectional study was conducted in the pediatric daycare unit, Hospital Universiti Sains Malaysia to determine the prevalence of craniofacial deformities (CFD) and the association between these deformities and different clinical presentations among thalassemia patients. Patients were classified as either craniofacial deformity positive (CFD+) or craniofacial deformity negative (CFD-) by two examiners based on the presence or absence of deformity of the cheeks, frontal and/or maxillary bones. Fifteen clinical parameters were compared between the groups. Nineteen out of 43 patients (44.2%; confidence interval, 30.2-58.2%) had craniofacial deformities (CFD+). Both groups were comparable among the clinical parameters studied. Patients in the CFD+ group did not start their blood transfusions significantly earlier than the CFD- group (p = 0.50) and had a nonsignificantly lower mean pretransfusion hemoglobin level than the CFD- group (p = 0.71). Patients receiving regular monthly blood transfusions had a nonsignificantly smaller percentage of CFD than those transfused less often (p = 0.495). CFD+ patients had a splenectomy at a nonsignificantly younger age than CFD- patients (p = 0.36). HbE/beta thalassemia patients were not significantly less likely to develop CFD than other varieties (p = 0.50) and males had a nonsignificantly higher percentage of CFD than females (p = 0.29). This study shows CFD in thalassemia patients are still prevalent but no significant associated factors were found; however, a nonsignificantly higher prevalence of CFD was observed in patients with signs of severe disease and less efficient treatment.

Matched MeSH terms: Thalassemia/therapy*

Filters

Please provide feedback to Administrator (afdal@afpm.org.my)

External Links