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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
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
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*
Fulltext Skeletal, dentoalveolar, and soft tissue cephalometric measurements of Malay transfusion-dependent thalassaemia patients

Toman HA, Nasir A, Hassan R, Hassan R

Eur J Orthod, 2011 Dec;33(6):700-4.
PMID: 21282284 DOI: 10.1093/ejo/cjq147

Thalassaemia is a public health problem in Malaysia. It is known to cause skeletal deformity. The purpose of this study was to compare the skeletal, dentoalveolar, and soft tissue features of Malay transfusion-dependent thalassaemia (TDT) patients with a Malay control group. Lateral cephalometric radiographs of 30 Malay (14 males and 16 females aged 6.4-21.8 years) TDT patients and 60 normal Malays matched for chronological age and gender were analysed and compared using an independent t-test. The TDT group showed a similar sagittal relationship to the control group but with a significantly increased (P < 0.01) mandibular plane inclination. They also showed a significantly shorter (P ≤ 0.001) mandibular body, ramus length, and posterior face height and consequently a smaller ratio of posterior to anterior face height (P < 0.01). The upper and lower lips were significantly procumbent (P < 0.001) in the TDT group together with a significantly smaller nasolabial angle (P < 0.05). Dentoalveolar measurements showed less proclined maxillary teeth in the TDT group compared with the controls (P < 0.05). The cephalometric features of Malay TDT patients were characterized by a mild Class II skeletal pattern, prominent vertical growth direction of the mandible, and protruded upper and lower lips.

Matched MeSH terms: 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 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*
Fulltext Prevalence of growth and endocrine disorders in Malaysian children with transfusion-dependent thalassaemia

Tan KA, Lum SH, Yahya A, Krishnan S, Jalaludin MY, Lee WS

Singapore Med J, 2019 Jun;60(6):303-308.
PMID: 30556093 DOI: 10.11622/smedj.2018155

INTRODUCTION: Endocrine dysfunction due to iron overload secondary to frequent blood transfusions is a common complication in children with transfusion-dependent thalassaemia (TDT). We ascertained the prevalence of endocrine dysfunction in children with TDT seen in a hospital setting in Malaysia.
METHODS: We reviewed all patients with TDT who had ≥ 8 blood transfusions per year. Patients who had a history of stem cell transplantation, concurrent autoimmune diseases or were newly diagnosed to have TDT were excluded. Standard diagnostic criteria were used in the diagnosis of various endocrine dysfunctions.
RESULTS: Of the 82 patients with TDT, 65% had at least one endocrine dysfunction. Short stature was the commonest (40.2%), followed by pubertal disorders (14.6%), hypoparathyroidism (12.3%), vitamin D deficiency (10.1%), hypocortisolism (7.3%), diabetes mellitus (5.2%) and overt hypothyroidism (4.9%). Subclinical hypothyroidism and pre-diabetes mellitus were seen in 13.4% and 8.6% of the patients, respectively. For children aged < 10 years, the prevalence of both thyroid dysfunction and hypoparathyroidism was 9.1%.
CONCLUSION: Two-thirds of children with TDT experienced at least one endocrine dysfunction. Thyroid dysfunction and hypoparathyroidism may be missed if endocrine screening is only performed in children with TDT > 10 years of age. Close monitoring for endocrine dysfunction and hormonal therapy is essential to prevent long-term adverse outcomes.

Matched MeSH terms: Thalassemia/therapy
Interaction of Hb South Florida (codon 1; GTG-->ATG) and HbE, with beta-thalassemia (IVS1-1; G-->A): expression of different clinical phenotypes

Tan JA, Tan KL, Omar KZ, Chan LL, Wee YC, George E

Eur J Pediatr, 2009 Sep;168(9):1049-54.
PMID: 19034506 DOI: 10.1007/s00431-008-0877-9

INTRODUCTION: Interactions of different hemoglobin variants with thalassemia alleles can result in various clinical phenotypes. HbE-beta-thalassemia generally manifests with severe anemia where individuals exhibit beta-thalassemia major with regular blood transfusions or beta-thalassemia intermedia with periodic blood transfusions. This study presents a unique Malay family with three beta-globin gene defects-HbE, Hb South Florida, and IVS1-1 (G-->A).
MATERIALS AND METHODS: HbE activates a cryptic splice site that produces non-functional mRNAs. Hb South Florida is a rare beta-hemoglobin variant, and its interactions with other beta-thalassemia alleles have not been reported. IVS1-1 is a Mediterranean mutation that affects mRNA processing giving rise to beta(o)-thalassemia.
RESULTS AND DISCUSSION: Fifteen mutations along the beta-globin gene complex were analyzed using the amplification refractory mutation system. Hb South Florida was identified by direct sequencing using genomic DNA.
CONCLUSION: The affected child with HbE/IVS1-1 produced a beta-thalassemia major phenotype. Compound heterozygosity for Hb South Florida/IVS1-1 produced a beta-thalassemia carrier phenotype in the mother.

Matched MeSH terms: beta-Thalassemia/therapy
Mild beta-thalassemia intermedia caused by compound heterozygosity for (G)gamma((A)gammadeltabeta)(o)/beta-thalassemia and molecular characterization of the defect in four Chinese families

Tan JAMA, Yap SF, Tan KL, Wong YC, Wee YC, Kok JL

Acta Haematol., 2003;109(4):169-75.
PMID: 12853688 DOI: 10.1159/000070965

Molecular characterization of the compound heterozygous condition - (G)gamma((A)gammadeltabeta)(o)/beta-thalassemia - in four families showing mild beta-thalassemia intermedia was carried out using DNA amplification techniques. Using the Amplification Refractory Mutation System (ARMS) to confirm the beta-mutations and DNA amplification to detect the 100-kb Chinese-specific (G)gamma((A)gammadeltabeta)(o)-deletion, ()two families were confirmed to possess (G)gamma((A)gammadeltabeta)(o)/beta-thalassemia with the IVSII No. 654 beta(+)-allele. In the third family, the (G)gamma((A)gammadeltabeta)(o)-deletion was confirmed in the father and the mother was a beta-thalassemia carrier with the cd 41-42 beta(o)-allele. Their affected child with (G)gamma((A)gammadeltabeta)(o)/beta-thalassemia was found to be transfusion dependent. The same (G)gamma((A)gammadeltabeta)(o)-deletion and beta-thalassemia (cd 41-42) was also confirmed in a fourth family. In addition, the mother was also diagnosed with Hb H disease (genotype -alpha(3.7)/-(SEA)). Both the children were found to possess (G)gamma((A)gammadeltabeta)(o)/beta-thalassemia but they were not transfusion dependent and this could be due to co-inheritance of alpha-thalassemia-2 (genotype-alpha(3.7)/alphaalpha) in the children together with their compound heterozygous condition.

Matched MeSH terms: beta-Thalassemia/therapy
Fulltext Zinc supplements for treating thalassaemia and sickle cell disease

Swe KM, Abas AB, Bhardwaj A, Barua A, Nair NS

Cochrane Database Syst Rev, 2013 Jun 28;2013(6):CD009415.
PMID: 23807756 DOI: 10.1002/14651858.CD009415.pub2

BACKGROUND: Haemoglobinopathies, inherited disorders of haemoglobin synthesis (thalassaemia) or structure (sickle cell disease), are responsible for significant morbidity and mortality throughout the world. The WHO estimates that, globally, 5% of adults are carriers of a haemoglobin condition, 2.9% are carriers of thalassaemia and 2.3% are carriers of sickle cell disease. Carriers are found worldwide as a result of migration of various ethnic groups to different regions of the world. Zinc is an easily available supplement and intervention programs have been carried out to prevent deficiency in people with thalassaemia or sickle cell anaemia. It is important to evaluate the role of zinc supplementation in the treatment of thalassaemia and sickle cell anaemia to reduce deaths due to complications.
OBJECTIVES: To assess the effect of zinc supplementation in the treatment of thalassaemia and sickle cell disease.
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: 01 February 2013.
SELECTION CRITERIA: Randomised, placebo-controlled trials of zinc supplements for treating thalassaemia or sickle cell disease administered at least once a week for at least a month.
DATA COLLECTION AND ANALYSIS: Two review authors assessed the eligibility and risk of bias of the included trials, extracted and analysed data and wrote 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: We identified nine trials for inclusion with all nine contributing outcome data. Two trials reported on people with thalassaemia (n = 152) and seven on sickle cell anaemia (n = 307).In people with thalassaemia, in one trial, the serum zinc level value showed no difference between the zinc supplemented group and the control group, mean difference 47.40 (95% confidence interval -12.95 to 107.99). Regarding anthropometry, in one trial, height velocity was significantly increased in patients who received zinc supplementation for one to seven years duration, mean difference 3.37 (95% confidence interval 2.36 to 4.38) (total number of participants = 26). In one trial, however, there was no difference in body mass index between treatment groups.Zinc acetate supplementation for three months (in one trial) and one year (in two trials) (total number of participants = 71) was noted to increase the serum zinc level significantly in patients with sickle cell anaemia, mean difference 14.90 (95% confidence interval 6.94 to 22.86) and 20.25 (95% confidence interval 11.73 to 28.77) respectively. There was no significant difference in haemoglobin level between intervention and control groups, at either three months (one trial) or one year (one trial), mean difference 0.06 (95% confidence interval -0.84 to 0.96) and mean difference -0.07 (95% confidence interval -1.40 to 1.26) respectively. Regarding anthropometry, one trial showed no significant changes in body mass index or weight after one year of zinc acetate supplementation. In patients with sickle cell disease, the total number of sickle cell crises at one year were significantly decreased in the zinc sulphate supplemented group as compared to controls, mean difference -2.83 (95% confidence interval -3.51 to -2.15) (total participants 130), but not in zinc acetate group, mean difference 1.54 (95% confidence interval -2.01 to 5.09) (total participants 22). In one trial at three months and another at one year, the total number of clinical infections were significantly decreased in the zinc supplemented group as compared to controls, mean difference 0.05 (95% confidence interval 0.01 - 0.43) (total number of participants = 36), and mean difference -7.64 (95% confidence interval -10.89 to -4.39) (total number of participants = 21) respectively.
AUTHORS' CONCLUSIONS: According to the results, there is no evidence from randomised controlled trials to indicate any benefit of zinc supplementation with regards to serum zinc level in patients with thalassaemia. However, height velocity was noted to increase among those who received this intervention.There is mixed evidence on the benefit of using zinc supplementation in people with sickle cell disease. For instance, there is evidence that zinc supplementation for one year increased the serum zinc levels in patients with sickle cell disease. However, though serum zinc level was raised in patients receiving zinc supplementation, haemoglobin level and anthropometry measurements were not significantly different between groups. Evidence of benefit is seen with the reduction in the number of sickle cell crises among sickle cell patients who received one year of zinc sulphate supplementation and with the reduction in the total number of clinical infections among sickle cell patients who received zinc supplementation for both three months and for one year.The conclusion is based on the data from a small group of trials,which were generally of good quality, with a low risk of bias. The authors recommend that more trials on zinc supplementation in thalassaemia and sickle cell disease be conducted given that the literature has shown the benefits of zinc in these types of diseases.

Matched MeSH terms: Thalassemia/therapy*
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
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*
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*
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
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
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*
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*
A single centre study on birth of children with transfusion-dependent thalassaemia in Malaysia and reasons for ineffective prevention

Ngim CF, Ibrahim H, Lai NM, Ng CS

Prenat Diagn, 2015 Jan;35(1):51-9.
PMID: 25156332 DOI: 10.1002/pd.4484

We aimed to identify factors contributing to ineffective prevention of thalassaemia in Malaysia by studying events leading to the births of children with transfusion-dependent thalassaemia (TDT) including their parents' reproductive choices.

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*
Bone-related complications of transfusion-dependent beta thalassemia among children and adolescents

Mirhosseini NZ, Shahar S, Ghayour-Mobarhan M, Banihashem A, Kamaruddin NA, Hatef MR, et al.

J. Bone Miner. Metab., 2013 Jul;31(4):468-76.
PMID: 23475127 DOI: 10.1007/s00774-013-0433-1

Thalassemia and the blood transfusion complications associated with it predispose children to poor bone health. This study was conducted to determine the prevalence of bone-related abnormalities and identify the bone health predictors within this population. One hundred and forty transfusion-dependent beta thalassemic subjects 8-18 years old in Mashhad, Iran, participated in this cross-sectional study. Anthropometric measures, dietary intake, bone-related biomarkers and bone densitometry, were assessed. The incidence of underweight and short stature was 33.6 and 41.4 %, respectively, which were indicators of malnutrition among thalassemic subjects in this study. Low bone density was detected in the lumbar spine and femoral region in 82 and 52 % of subjects, respectively. Hypocalcemia and hypophosphatemia were seen in 22 and 18.2 %, whilst vitamin D deficiency was present in more than 85 % of thalassemic children and adolescents. The relationships between weight, height and other anthropometric indices, serum calcium and bone markers, intake of macronutrients, zinc and vitamin E with bone mineral density (BMD) and bone mineral content (BMC) in the lumbar spine and femoral area were positively related, indicating that better nutritional status were associated with higher BMD and BMC values. Puberty, gender and serum osteocalcin were negative predictors for BMD and BMC values, whereas age, weight and height were the positive predictors. High incidence of low bone density and deficit in other aspects of bone health among thalassemia patients makes routine bone health assessment necessary for this vulnerable group. Considering influencing factors, dietary counseling and preventive supplementation therapy for this high risk group of children and adolescents may be necessary, although this should be assessed by intervention studies.

Matched MeSH terms: beta-Thalassemia/therapy*

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