HRQOL is referring to patients' perceptions that is related to physical and mental of thalessemia patients. HRQOL measurement is crucial in assessing the extent of impact that this chronic disease has affected the thalassaemia patients’ lives. HRQOL measurement also includes identifying the effects of the treatment and disease towards wellbeing of the patients. Quality of Life (QOL) of individuals with thalassaemia major are affected by many influence factors such as the effect of diagnosis and treatment, chronic conditions state, appearances, treatment’s components such as frequent hospital visits for the transfusion, nightly mixture of subcutaneous, late arrival or absence, sexual development and complications from the disease[1-2].
The study aims to assess the Health Related Quality of Life (HRQoL) among thalassaemia patients and identify the significant factors that contribute to HRQoL in thalassaemia patients in Malaysia. A cross sectional based study was conducted at Kedah Thalassaemia Society Club in Kedah, Malaysia. The HRQoL was measured using a Short form survey version 2 (SF-36). Descriptive study was used to describe the demographic and disease related to the thalassaemia patients. The HRQoL was compared using the Mann-Whitney and Kruskal-Wallis test. The analyses were performed using the Quality Metric Health Outcomes Scoring software for SF-36 and SPSS v 22. Three hundred and ninety thalassaemia patients were enrolled in the study. The majority of the participants (n = 221, 58.5%) were categorized in the age group of 18-27 years (25.40 ± 10.2). The HRQoL measure of less than 50 for the physical component summary (PCS) and mental component summary (MCS) among thalassaemia patients were rated as poor. Patients with higher education levels were significantly associated with PCS (p=0.002) and showed higher mean scores for PCS (52.0) compared to the others. Age, marital status, employment status, monthly income, health check-ups before screening of thalassaemia and medical insurance was associated with PCS levels compare to the others. The type of thalassaemia, the medical treatment received and the side effects of the conventional treatment were significantly associated with p-values of less than 0.001 and PCS and MCS scores of below 50.
Mutations in the δ globin gene are not pathologically significant [1]. However, coinheritance of β and δ thalassaemia can mask the diagnosis of β thalassaemia trait as it causes HbA2 level to be lowered [2,3]. Here, we reported 5 unrelated cases of compound heterozygous β0 Filipino ~ 45 kb deletion and codon 67 (GTG>ATG) HbA2 Deventer in Sabahan population.
Cases of β°-thalassemia traits with unusual low HbA2 were reviewed. These cases were initially referred to our laboratory for definitive diagnosis of β-thalassemia trait. Haematological parameters and Hb analysis were carried out at the referral hospital. Genomic DNA was extracted from the peripheral blood. Multiplex ARMS and Gap PCR were done to detect common point mutations and deletions for both alpha and beta globin genes. Sanger sequencing was performed to detect mutations in delta globin gene.
Patients’ consist of 4 males and 1 female aged between 25-38 years old. All of them are indigenous Sabahan (2 Kadazans, 1 Murut, 1 Dusun and 1 Sungai). Their haemoglobin level ranges between 10.8 – 12.8g/dl. Hb analysis findings of HbA2 and HbF level ranges between 2.9 – 4.0 and 2.2 – 9.4g/dl respectively. Molecular findings revealed heterozygous state of (β)º-thal, Filipino ~45Kb deletion, NG_000007.3:g.[66258_184734del];[66258_184734=] and heterozygous state of Codon 67 [GTG>ATG] Hb A2-Deventer mutation, NG_000007.3:g.[63512G>A];[63512G=] (Figure 1 and 2).
Detection of 5 unrelated cases of HbA2 Deventer may suggest that this delta variant is common among indigenous Sabahan. Since beta thalassaemia is also common in the population, more attention should be paid during diagnosis. Identification of delta variant in beta thalassaemia carrier is important because coinheritance of beta and delta thalassaemia results in a less elevated HbA2 level. Therefore, molecular testing of thalassemia carrier state in the case of borderline HbA2 is warranted to avoid misdiagnosis of beta thalassaemia carriers.
Tunnel vision is a classic sign among patients with advanced glaucoma. However, other conditions such as retinitis pigmentosa, optic neuritis and rod-cone dystrophy may be characterized by similar visual field defects. A 52-year-old lady with a family history of glaucoma presented with bilateral gradual loss of peripheral vision for two years. She claimed to have poor night vision about 20 years prior to this presentation. Her visual acuity was 6/7.5 in both eyes. The anterior chamber depth was moderate bilaterally, with Schaffer grading on gonioscopy of grade I to II. The intraocular pressure was 14 mmHg in both eyes. The optic discs appeared normal. Fundus examination showed scattered hypopigmented changes sparing the fovea. Humphrey visual field test revealed bilateral constricted visual fields. She was diagnosed with retinitis punctata albescens (RPA) based on her symptom of poor night vision, supported by the diffuse hypopigmented changes in her fundi. The management of this condition involves careful counselling regarding the genetic nature of the disease and its progressive course. We discuss this case to illustrate the importance of a thorough history taking and careful fundus examination in the workup of patients presenting with tunnel vision.
44-year-old Malay lady presented with drooping of the right eyelid and worsening of left eye vision for one week duration. There was associated headache, periorbital discomfort and diplopia on left gaze. She previously had a history of recurrent optic neuritis affecting both eyes over a period of 12 years. On examination, there was right-sided partial ptosis and left exotropia. The adduction, abduction, elevation and depression of the right eye was limited. Left eye extraocular movements were full. The right eye visual acuity was 6/9, while the left eye visual acuity was perception to light, with a positive relative afferent papillary defect and a pale optic disc. The right optic disc was normal. There was reduced sensation in the trigeminal nerve distribution over the right side of the face. Neurological examination was otherwise normal. Magnetic resonance imaging of the brain and orbit revealed meningeal thickening with involvement of the right orbital apex and cavernous sinus. Blood investigations for infectious and autoimmune causes were unremarkable. She was diagnosed to have idiopathic hypertrophic cranial pachymeningitis and treated with systemic corticosteroids. The right eye extraocular motility improved, while the left eye visual acuity improved to counting finger. This case demonstrates that idiopathic hypertrophic cranial pachymeningitis may present as recurrent optic neuritis in the early phase, before radiological evidence of the disease is present. A high index of suspicion for the underlying cause is essential to prevent irreversible optic nerve damage due to recurrent optic neuritis.
Chromosomal abnormalities (CA) can affect numerical or structural compositions of chromosomosal DNA leading to a diversity of clinical phenotypic presentations. Awareness of prenatal diagnosis and genetic counselling have improved with advancing medical research but CA remain prevalent as its aetiology is unknown. The objective of this study is to determine the frequencies of various CA in the principle region of north-western Malaysia and compare this data to previous reports to ascertain if statistical differences exist. Karyotype analyses performed at the Genetics Laboratory, Advanced Diagnostic Laboratory (ADL) during the first 5-years of cytogenetic services, totalling 1461 cases, were assessed in this report. Cases suspected of CA were initially diagnosed by clinicians and detailed clinical and family histories were recorded. Peripheral blood lymphocytes of patients were collected and cultured in vitro for acquisition of karyotype by standardized G-banding technique. Fluorescence in situ hybridization (FISH) was conducted in cases suspected of to be DiGeorge, Prader-Willi, Angelman and Williams syndrome. Of the total samples (1805) received and cultured, 1669 (92.46%) successfully yielded results. Abnormal outcomes were observed in 495 cases (29.66%) whereby pronounced majority of cases 299 (68.42%) were Down syndrome. This is followed by Edward, Turner and Patau syndrome, in order of frequency. Numerical CA appears to be prevalent accounting for 85.86% of cases. Structural CA accounted for 14.14% of total positive cases whereby the most common was deletions (34.29%) followed by translocations (20%), ring chromosomes (5.71%), Fragile X syndrome (4.29%), duplications (5.71%) and marker chromosomes (7.14%). The remainder of cases (22.86%) consisted of derivative chromosomes and other complex aberrations. The number of polymorphic variant cases were 27 (1.62%). The number of peripheral blood samples received has significantly increased from 14.3 per month in 2006 to 32.17 per month in 2011. Comparative analysis of our study to previous reports reveal statistical differences in the occurrence of several CA including Edward, Patau, Klinefelter and Fragile-X syndrome. Our experience with peripheral blood samples for cytogenetic analysis demonstrated a success rate of 92.46%. This showed an increase in clinicians validating patients’ diagnoses with karyotyping which is essential in confirming genetic anomalies with the goal to substantiate genetic counselling.
The aim of this study is to determine the risk factors for retinopathy of prematurity (ROP), and also to screen Norrie Disease Pseudoglioma (NDP) gene mutation in order to determine if mutation in the NDP gene may play a role in the development of ROP among Malay premature infants. This was a case control studyamong Malay premature infants from Hospital Universiti Sains Malaysia (USM) conducted from August 2011 to May 2013. Written consent were taken from their parents before conducting the study. The stage of ROP, systemic risk factors (gestational age and birth weight) and enviromental risk factors (oxygen exposure and duration of ventilation)were reviewed from patients’medical records. DNA was extracted from venous blood and subjected to polymerase chain reaction (PCR) before direct sequencing of NDP gene. A total of 56 Malay premature infants (Case group = 28 ROP premature infants, Controlgroup = 28 non-ROP premature infants)from Hospital USMwere enrolled in this study. Out of 28 premature infants with ROP, 11 (39.3%) premature infants were in stage 3. Only 1 (3.6%) premature infant in stage 4 and 2 (7.2%) premature infants in stage 5. The gestational age (p = 0.010) and birth weight (p = 0.010) were the significant risk factors for ROP. There was no significant difference ofenvironmental risk factors between the two groups. The NDPgene mutation was not detected in Malay premature infants with ROP and also in control group. The gestational age and birth weight were important risk factors of ROP.Although NDPgene mutations were being linked to ROP but NDPgene mutation was not detected in premature infants with ROPas well as premature infants with non-ROP among Malay ethnic background.
Clinacanthus nutans or locally known as Belalai Gajah in Malaysia has been used in China in various manners to treat inflammatory conditions like hematoma, contusion, strains and rheumatism. Recently, C. nutans has become popular for the treatment of cancer among Malaysian. Thus, the aim of this present study is to prove the anti cancer activity of C. nutans extracts in a treatment of cervical cancer as claimed by local people. Aqueous and methanol extracts were extracted from the leaves of C. nutans and phytochemical screening was performed for determination of secondary metabolites. The cytotoxic activities of both aqueous and methanol extracts were investigated against HeLa cell by using MTT assay. The mode of cell death was examined by Hoechst 33258 nuclear staining. The secondary metabolite constituents detected in C. nutans aqueous extract are terpenoids and flavonoids, whereas methanol extract contains terpernoids, alkaloids and flavonoids. Results also showed that C. nutans aqueous extract exerted a significant cytotoxic effect on HeLa cells (IC50=13±0.82 μg/ml) but no IC50 was detected by methanol extract. No significant cytotoxic activities (IC50 = not detected) were observed in normal kidney cell line, Vero, treated with both aqueous and methanol extracts of C. nutans which showed the cytoselective property of the extracts. However, HeLa and Vero cells treated with control drug, tamoxifen showed a significant cytotoxicity effects with IC50 values of 3.8±0.19 μg/ml and 2.2±0.029 μg/ml respectively. Hoechst 33258 stained showed the aqueous extract of C. nutans induced cell death on HeLa cells via apoptosis. Thus, suggesting C. nutans aqueous extract as a potential promising alternate therapeutic substance for cancer prevention and treatment especially for cervical cancer treatment.
Glaucoma is a chronic disease that could affect the quality of life and is a potential stressor for patients. Visual field assessment is important in monitoring disease progression among glaucoma patients. Stress could influence the performance of patients in visual field test that may affect the reliability of the test. Our objective in this study was to determine the association between stress score using Depression, Anxiety and Stress Scale (DASS) questionnaire and reliability indices of Humphrey visual field analysis (HFA). A total of 155 primary and secondary glaucoma patients were recruited in the study. Face to face interview using stress component of DASS questionnaire was conducted after automated HFA test. Reliability indices; i.e. fixation loss, false positive, and false negative error, were used to determine the accuracy of HFA result. Only 12 patients (7.7%) were found to have elevated stress score. No significant correlation was found between DASS stress score and the reliability indices of HFA. There was 0.2 folds (95% confidence interval (CI) [-2.35, -0.06], p = 0.039) reduction of fixation loss for every number of HFA done. For every one year increase in age, there was 0.2 folds (95% CI [-0.38, -0.07], p = 0.006) reduction in false positive error in HFA.
Minimal stress may not affect the reliability of HFA assessment. Minimising stress among glaucoma patients is important not only for assessment of visual field but also for improvement of quality of life.
Early detection and prompt treatment of eye diseases can prevent visual disability. To our knowledge, there is no published data on factors associated with delayed presentation of eye diseases in Malaysia. Our objective is to determine the proportion of patients with eye disease who had a delayed presentation to an ophthalmologist after an initial screening, as well as the factors associated with delay in seeking treatment. This was a retrospective cohort study of patients with eye diseases detected during a Community Eye Survey (CES) program from September 2004 to December 2012 who were referred to the ophthalmologist in Hospital Universiti Sains Malaysia (USM). Delayed presentation of eye disease was defined as patients who came to the eye clinic more than six months after eye screening. Multiple logistic regression was used for analyses. A total of 434 patients who were referred to Hospital USM, Kubang Kerian were included in the study. Their mean (standard deviation) age was 55.65 (21.62) years. The majority of patients (76%) had delayed presentation of eye disease post screening. Type of ocular diseases was not associated with delayed presentation. The factors associated with delayed presentation were unemployment (adjusted odds ratio (OR): 2.51, 95% CI (1.36, 4.64), p
Study site: Hospital Universiti Sains Malaysia (HUSM)
The most common inherited monogenic disorders in the world are the haemoglobinopathies and thalassaemia. Thalassaemia is a heterogeneous group of genetic disorders of haemoglobin synthesis, characterised by a reduction in the production of one or more of the subunits of haemoglobin chains [1]. Haemoglobin A2 (HbA2) level is an important parameter in thalassaemia diagnosis. High HbA2 level (≥4.0) detected in Hb analysis, points to the diagnosis of beta thalassaemia and other haemoglobinopathies. However, in some cases, the HbA2 levels are apparently normal or borderline high despite abnormal haematological profile. In these cases, further testing is required to confirm the diagnosis. The aim of this study is to examine any abnormality at molecular level in cases of Hb analysis results with normal or borderline high HbA2 level.
Thalassaemia screening programme was conducted to reduce the burden of the disease [1]. Here, we describe one unexpected discovery in a 33-year-old gentleman and also the importance of DNA analysis in detecting the globin gene mutation.
Complex chromosome rearrangements (CCRs) are structural aberrations or rearrangements involving three or more cytogenetics breakpoints on two or more chromosomes [1]. Balanced and unbalanced are known to have significant risk of mental retardation and phenotypic anomalies. CCRs are also associated with infertility in males and recurrent abortion in females. Here we report one case of apparently balanced CCR involving three chromosomes 3, 5 and 12 in a child with abnormal features. G banding and FISH were performed to clarify the nature of this complex abnormality.
To report a rare case of an elderly gentleman who presented with herpes zoster ophthalmicus, complicated with persistent hyphema and orbital apex syndrome. A 75-year-old Malay gentleman presented with left herpes zoster ophthalmicus that was complicated with complete ophthalmoplegia and ptosis. He developed total hyphema in the affected eye with a secondary elevated intraocular pressure after a week. He was treated with oral acyclovir and topical corticosteroids. However, the total hyphema persisted that required an anterior chamber washout surgery. Herpes Zoster Ophthalmicus complicated with persistent hyphema and orbital apex syndrome is rare and very challenging to manage. Radiological imaging is important to exclude other causes of OAS. It is recommended to treat HZO with systemic acyclovir for a longer duration in view of ocular and neurological involvement.
Lung cancer is the second most common contributor to overall cancer–associated death in Malaysia after breast cancer. Many cases of late diagnosis are due to patient’s failure in recognizing the signs and symptoms of this disease. Objective: The aim of this research was to evaluate the knowledge on lung cancer and perception on its screening among IIUM Kuantan students. Method: This was a cross-sectional study whereby convenient sampling was used as the sampling method strategy. A total of 186 students participated, whereby majority was female students, single, and aged between 21 to 29 years old. Knowledge and perception scores were analyzed using descriptive statistics by denoting it in terms of frequency and percentages. Independent t-test, as well as one-way ANOVA, Mann-Whitney and Pearson correlation tests was used to find the association of gender, faculty, marital status, age and year of study (respectively) with knowledge and perception of students. Association between knowledge of lung cancer with perception of its screening was also evaluated using Pearson correlation test. Results: Most of IIUM Kuantan students portrayed good level of knowledge and perception. Socio-demographic factors that were significantly associated with students’ knowledge were age (p=0.001), year of study (p=
A 65-year-old lady complained of occasional flashes of light over her left eye for 2 months. She was referred for ocular assessment after she underwent refractive assessment at the optometrist. On examination, best corrected visual acuity in both eyes was 6/9. Both eyes anterior segments were normal, with normal intraocular pressure. The pupils were equal with no relative afferent pupillary defect. Left eye fundus examination was normal. On the contrary, the "normal" right eye fundus examination revealed a huge, well-circumscribed hypo-pigmented elevated choroidal mass. B scan ultrasonography of the right eye showed a mushroom-shaped intraocular mass. Magnetic resonance imaging showed an intraocular lesion. Comprehensive systemic examination and investigations to rule out distant primary malignancy were unremarkable. A provisional diagnosis of right eye primary choroidal melanoma was made. Despite good vision in the affected eye, she underwent right eye enucleation in view of the large intraocular mass. The diagnosis was confirmed by histopathological examination.
A hemangioma is a benign vascular tumor of the brain, which rarely occurs in the cavernous sinus. We report a rare case of cavernous sinus hemangioma presenting with binocular diplopia. A 23-year-old lady presented with binocular diplopia associated with restricted left lateral gaze for 3 months. Visual acuity of both eyes was 6/6 with normal pupillary reaction. Both anterior and posterior segment were unremarkable. Contrasted computed tomography of brain showed an irregular mass within the left cavernous sinus causing pressure effect on the adjacent bone. Cerebral magnetic resonance imaging (MRI) showed a convexity in the left cavernous sinus, with a well-defined heterogeneous lesion with mixed hypo and hyperintensity in T1WI and T2WI; post gadolinium contrast, it was minimally enhanced. The patient was managed conservatively and at one-year post presentation, her symptoms improved but the lesion morphology and size remained static. We highlight the classic radiological presentation of a hemangioma and discuss the features differentiating it from the more commonly observed meningioma seen in the cavernous sinus.
The National Blood Center, Kuala Lumpur interprets laboratory results for the von Willebrand factor (vWF) profile based on guidelines provided by the U.S. National Heart, Lung, and Blood Institute, which were established based on the Caucasian population [1-2]. The vWF profiles among the Malay population has not yet been established.
The goals of this study were to determine the vWF profiles of the different ABO blood types among Malays and to evaluate their association with demographic characteristics and smoking habits.
One hundred and forty Malay donors participated in this study. Factor VIII (FVIII), vWF antigen, and ristocetin cofactor (RiCof) levels and collagen binding activity (CBA) were measured by coagulometric clot detection, latex agglutination, and enzyme-linked immunosorbent assay.
The incidence of HbE/beta (HbE/β) thalassaemia is increasing in Asian countries, including Malaysia. HbE/β thalassaemia is widely acknowledged to have a diverse phenotypic spectrum despite having the same primary genetic background [1,2,3]. Thus, there are HbE/β thalassaemia patients who receive unnecessary treatments which leads to side effects [4], reduced quality of life and wasting health care resources. Ideally, the treatment and management of thalassaemia patients are individually tailored in order to minimise side effects and optimise health care costs. Genetic variants have been widely acknowledged to influence the variability of human phenotypes. Presence of unique genetic modifiers are believed to cause the diversity in HbE/β thalassaemia severity. Milder disease course has been found to be highly associated with Xmn1-Gγ polymorphism (rs7482144), a SNP at HBG2 promoter [1,5,6,7]. So far, there is no association study between Xmn1-Gγ polymorphism and HbE/beta thalassaemia disease severity in Malaysia. This study aims to optimise PCR-RFLP technique for detection of Xmn1-Gγ polymorphism, to determine the frequency of Xmn1-Gγ polymorphism in HbE/β thalassaemia patients and finding its association with the severity of HbE/β thalassaemia patients. This hospital-based cross-sectional study was performed using archived genomic DNAs from 58 subjects with their respective research pro formas. Selected datas were extracted from the pro formas in order to classify patients into 3 disease severity groups using the scoring system by Sripichai et al., (2008) based on 6 parameters. The archived genomic DNAs were genotyped employing Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) technique. The genotypes were categorised into homozygous variant, heterozygous and homozygous wild type. The genotypes detected were then validated using DNA sequencing analysis. Appropriate statistical analysis was used to determine the association of Xmn1-Gγ polymorphism with the clinical severity of HbE/β thalassaemia. This study had successfully optimised the PCR-RFLP technique for detection of Xmn1-Gγ polymorphism. Out of 58 subjects, the Xmn1-Gγ polymorphisms were detected in 40 subjects (69%) with the majority being heterozygous (CT) (n=38, 66%) and there were only 2 (3%) homozygous variant (TT) subjects. Homozygous wild type (CC) were detected in 18 (31%) subjects. There were no significant association of Xmn1-Gγ polymorphism with the severity of HbE/β thalassaemia patients with p-value of 0.65 for genotype and 0.58 for allele, respectively. In conclusion, this study showed no significant association of Xmn1-Gγ polymorphism with milder disease severity of HbE/β thalassaemia patients. This can be a true finding for the patients in North East Malaysia or due to small sample size. Thus we recommend to have a larger study in order to validate the association of Xmn1-Gγ polymorphism with HbE/β thalassaemia severity. In addition, there may be other genetic factors that interact with Xmn1-Gγ polymorphism as it was not possible to consistently predict phenotype and severity from the presence of Xmn1-Gγ polymorphism alone.
Globally, α-thalassaemia is a highly prevalent disease. In Malaysia, this disorder is a well-known public health problem [1]. The three most common deletional α-thalassaemia found in this region include --SEA deletion, -α3.7 and -α4.2 deletions [2]. The prevalence rate of triplication alpha cases such as αααanti3.7 and αααanti4.2 is unknown in Malaysia although it plays a pivotal role in exacerbating the clinical phenotypes in beta thalassaemia carriers [3]. Therefore, the purpose of this study was to design an assay for the detection of triplications and common deletional alpha thalassaemia using droplet digital PCR (ddPCR). Copy number changes were analysed using Quanta-SoftTM software version 1.6.6 after performing ddPCR. Sensitivity and validation analysis were also performed on the DNA samples. The changes in copy number changes (common deletions, duplications and triplications) in the alpha globin gene has been quantitatively detected using ddPCR. For the samples validation as determined by ddPCR, the mean copy number values for αα/αα are 2.0275±0.0177 (HS-40), 1.8175±0.0389 (HBA2), 2.0450±0.0848 (HB 3.7), 2.0050±0.0000 (HBA1). For -α3.7 /--SEA, the mean copy number values are 2.0225±0.2180 (HS-40), 0.9325±0.1213 (HBA2), 0 (HB 3.7), 0.9984±0.1333 (HBA1). As for –α4.2 /--SEA, the mean copy number values are 1.9350 (HS-40), 0 (HBA2), 0.7945 (HB 3.7), 0.8480 (HBA1). The mean copy number values for --SEA/αα samples are 1.9067±0.1327 (HS-40), 0.8164±0.0364 (HBA2), 0.8920±0.0434 (HB 3.7), 0.9148±0.0338 (HBA1) respectively. This study has found that the use of ddPCR is convenient as it allows direct quantification without the requirement of a calibration curve unlike qPCR [4]. Secondly, this study also showed that ddPCR is accurate and precise in the detection of alpha thalassaemia deletions and triplications based on the gene dosages using absolute quantification. In addition, the non-requirement of post-PCR work has minimised the risk of PCR carryover contamination. Thirdly, ddPCR saves time with less turnaround time and minimise the labour work required as compared to techniques such as MLPA which requires DNA denaturation and hybridisation reaction on day 1 while ligation and PCR reaction on day 2. Fourthly, this study found that the detection of α-thalassaemia using ddPCR is sensitive. DNA samples with low concentration as low as 1 ng were able to be detected for α-thalassaemia using ddPCR. The ability to detect minute amount of DNA concentration is crucial particularly in the diagnosing of the lethal HbH hydrops foetalis during the neonatal stage in α-thalassaemia. In conclusion, this is an alternative method (ddPCR) that can be employed for rapid detection of alpha thalassaemia variants in Malaysia.
Complete blood count (CBC) is used broadly to screen individual's general health status. Some inherited red blood cell (RBC) disorders influence the RBC parameters. Mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) are amongst the important RBC parameters used in thalassaemia-haemoglobinopathy screening [1-2]. Globin chain disorders and Southeast Asian Ovalocytosis (SAO) are common RBC disorders in Southeast Asian countries [3]. We evaluated the RBC parameters in patients with Hb E and those with SAO co-inheritance.
A total of 33 from 1500 Malay patient’s samples that were sent for thalassaemia-haemoglobinopathies screening in Hospital Kuala Lumpur (HKL) were identified and consented (30 cases with Hb E and 3 cases with co-inheritance of Hb E and SAO). The inclusion criteria were Malay patients with MCV and MCH levels less than 78 fL and 27 pg respectively with presence of oval and stomatocytic RBCs in the peripheral blood film. DNA extraction was performed in samples suspected of having co-inheritance of SAO and Hb E. Primers 198 and 199 (AIT biotech Pte Ltd. Singapore) were designed for SAO detection [4], [5]. Hb E mutation was detected using ARMS PCR [6].
SAO was characterised by presence of an in frame 27bp deletion in exon 11 of the band 3 gene. A band of 175bp was observed in normal subjects and two bands, 175bp and 148bp were observed in heterozygous SAO subjects (Fig. 1).