Xenobiotic substance released in the environment is a concern among the public at large. The example of this xenobiotic release into the environment is xenoestrogens. Xenoestrogens have the capability to bind to the estrogen receptors in the body even at low affinity. Food, pesticides and contraceptive pills are known sources of xenoestrogens. In this study, acute toxicity test was conducted to evaluate toxicity of synthetic estrogen such as estradiol to the embryo-larvae of zebrafish model. Morphological changes in the embryo-larvae of zebrafish were also observed. The parameters that were evaluated in acute toxicity study were half lethal concentration (LC50) and few apical endpoints such as coagulation of embryos, development of pericardial edema, and eyes size. Toxicity effect of the compound was evaluated in term of behavior activity of the larvae. Results showed that certain concentration of estradiol caused toxic effects to the embryo-larvae of the zebrafish (p
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.
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.
The aims of the study were to investigate the anti-cancer effects of 5-
Aza and TSA in two leukemic cell lines (CCRF-CEM and HL-60). Inhibition
concentration of 5-Aza and TSA were measured using trypan blue exclusion
assay. 5-Aza and TSA at IC50 were treated to both CCRF-CEM and HL-60 cell
lines for 4-6 days. To confirm the inhibition effects of these agents, Annexin-V
stained cells were analyzed using flow cytometry to evaluate the apoptotic
induction. The IC50 values of CCRF-CEM were 2.01±0.1µM and 2.65±0.3µM for
5-Aza- and TSA-treated, respectively. Whereas, the IC50 values of HL-60 were
1.98±0.2µM and 2.35±0.2µM for 5-Aza- and TSA-treated, respectively. To
further substantiate the findings, the time-dependent exposure of both drugs was
studied. CCRF-CEM cells were reduced to 49.4%±5.0, 49.4%±2.5 and
41.5%±5.6 by 5-Aza; 56.5%±7.0, 45.3%±4.2 and 40.2%±4.2 by TSA treatment
at first, third and sixth day. HL-60 cells were reduced to 72.0%±4.5, 51.0%±1.5
and 40.6%±2.6 by 5-Aza at first, third and sixth day. Meanwhile, HL-60 cells
reduced to 55.6%±4.5, 45.2%±4.0 and 36.3%±2.9 by TSA at first, second and
fourth day. Both cell lines were significantly inhibited (p
Gene expression is the most fundamental level at which the
genotype gives rise to phenotype. The development of human salivary
exosomes has become one of the promising researches to improve cell-based
tissue engineering but their functions in human periodontal ligament fibroblast
(HPdLF) cells are not well studied. To study the effect of human salivary
derived exosomes on the gene expression of HPdLF cells. In vitro, HPdLF
cells were cultured for 24 hours with 10 µg/ml of human salivary exosomes.
Determination of gene expression levels of basic fibroblast growth factor
(bFGF) and collagen type I (COL1) in the presence and absence of human
salivary exosomes in HPdLF culture was performed using quantitative reverse
transcriptase polymerase chain reaction (RT-qPCR). Human salivary
exosomes significantly upregulated bFGF gene expression but not COL1
gene in HPdLF cells after 24 hours of culture. Human salivary exosomes are
able to upregulate bFGF gene in HPdLF cells. Thus, they might have potential
to be used as an alternative biomaterial in tissue engineering for periodontal
regeneration.
Abstract—The functions displayed by exosomes derived from saliva and
other body fluids have been established. This paper studied the stability of
human salivary exosome beginning from the collection mode, storage, and its
preservation methods. Unstimulated saliva samples were collected from
healthy subjects. Protease inhibitor was added into each samples and stored
under different temperatures and at varying periods of time. The exosomes
were isolated by ultracentrifugation and confirmed by using Western Blot.
Exosome morphology was inspected by Scanning Electron Microscope (SEM)
and the protein concentration was determined using the Protein (Bradford)
Assay. The exosome particle size distribution and concentration were
calculated using Nanoparticle Tracking Analysis (NTA). The protein assay
showed no significant differences in the exosome protein concentration values
for all conditions. Western Blot analysis also showed no differences in the
presence of exosome and all the samples were positive for protein CD63.
SEM analysis showed the fine shape of exosome which is round, in vesicle
form with the size ranging between 10 nm and 100 nm. NTA determined the
individual mean and the clumping exosome size was 203 nm. Human salivary
exosomes remained intact in the absence of protease inhibitor and in different
storage temperatures.
An 11- month-old girl with accidental findings of pale and hepatosplenomegaly. She was the last child of three siblings from a non-consanguineous marriage. The father and the mother were Hb E trait and Hb Constant Spring (Hb CS) trait respectively. Clinically the child was small for age with frontal bossing and hepatosplenomegaly. Sytemic examination was unremarkable. Her full blood picture showed moderate hypochromic microcytic anaemia with marked anisopoikilocytosis (Hb of 7.1g/dl, MCV of 44.6 fl, with MCH of 13.8 pg and RDW-CV of 24.0%). Quantitation of haemoglobin by using High Performance Liquid Chromatography (HPLC) and gel electrophoresis report showed that the patient has compound heterozygous E/ß+ thalassaemia with Hb H-CS. She had increased of Hb A2/E (28.9%), and Hb F (11.2%) with presence of pre-run peak and a tiny peak at C window. Gel Electrophoresis by using agarose gel at alkaline pH discovered prominent A2 band and fast band to the left of Hb A band. H inclusions were positive. Further confirmation of diagnosis was done by molecular study. Alpha molecular study using Multiplex GAP PCR showed heterozygous --/SEA deletion (Fig. 1), while beta molecular study using Multiplex Amplification Refractory Mutation Systems (ARMS) revealed Cd 26 (G-A) and CAP +1 (A-C) mutations [Fig. 2]
Hemoglobin (Hb) E is common in Southeast Asia [1]. HbE disorders may be found heterozygous (AE) which usually asymptomatic, homozygous (EE) and compound heterozygous state with widely variable clinical features, ranging from transfusion dependence to a complete absence of symptoms [2]. Considering her history, clinical findings and investigations, the most likely diagnosis in our case is Compound heterozygous E/ß+ thalassaemia with Hb H-CS. She had moderate hypochromic microcytic anaemia, raised Hb A2/E and Hb F with presence of pre-run peak and a tiny peak at C window support the diagnosis. Unfortunately, we’re unable to confirm the presence of Hb CS in view of no modalities available in our setting. However, with the family history of mother with Hb CS trait, the presence of Hb CS in this patient cannot be denied as a factor contributing to Hb H disease. Previous study reported Hemoglobin Constant Spring is often missed by routine laboratory testing, especially in subjects with co-inheritance of β-thalassaemia or β-variants. Hb CS detection clearly seen in capillary electrophoresis compared to HPLC [3]. As in this case only a very tiny peak of Hb CS noted on the HPLC. The molecular analysis for detection of Hb CS should be performed as for confirmation test. Hb H-CS has a severe phenotype than a deletional Hb H disease [4]. The diagnosis was confirmed by molecular analysis. Hence, genetic testing and family study are of particular importance to establish the exact genetic defect causing the abnormal Hb in this patient.
In view of thalassaemia is common in our region, it is important to identify complete genotyping to provide proper management, make clinical predictions and improve genetic counseling.
Muscular dystrophy is a group of diseases that result in progressive muscle weakness and atrophy. Duchenne Muscular Dystrophy (DMD) is classified as dystrophinopathy and is an X-linked recessive disease. It is caused by alterations in the dystrophin gene at Xp21.2 encoding 79 exons [1]. It is characterised by progressive muscle wasting that begins at 3 to 5 years, delay in motor development and eventually wheelchair confinement followed by premature death at about 30 years from cardiac or respiratory complications [2]. Genetic etiology of cases of DMD in Malaysia are still scarcely reported. Here, we report the genetic cause in the case of an 11-year-old Kelantanese Malay boy who has progressive muscle weakness since 5 years old. He has difficulty in getting up from sitting and supine position also in climbing up stairs until 1st floor. He has a strong family history of DMD and musculoskeletal problems. His younger brother was diagnosed with DMD by molecular analysis and his maternal uncle died at the age of 16 with musculoskeletal problems but was never investigated. Physical examination revealed no dysmorphic features, positive Gower sign with absent tounge fasciculation. On neurological examination, tendon reflexes and muscle tone for limbs were normal. Muscle power for bilateral upper limbs were normal, however, bilateral lower limbs showed slight reduction in muscle power with calf hypertrophy.
Odontogenesis is a complex process regulated by both genetic and molecular controls. The development of a tooth in the embryo stage is controlled by a series of signals which occur between tooth-forming epithelium and neural crest-derived ectomesenchyme. Though many genes are involved in tooth formation involving major signalling molecules, the bone morphogenetic protein and fibroblast growth factor are the most important ones involved in odontogenesis. Supernumerary tooth occurs because of imbalance in the expression of the signalling pathways and their inhibitors. This review highlights the various signalling molecules that play a role in odontogenesis in order to provide a better understanding on of the molecular mechanisms involved in the formation of supernumerary tooth in humans.
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.
The aim of the study is to evaluate the effects of contact and non-contact laser photocoagulation (LP) on ocular surface changes and Ocular Surface Disease Index (OSDI) score in patients with proliferative diabetic retinopathy (PDR). This was a single center, prospective, randomised, parallel-controlled trial of pilot study in Hospital Universiti Sains Malaysia between June 2013 and May 2014. Eye with PDR was selected and randomised into 2 groups (Contact LP group and Non-contact LP group) by using random sampling envelope method. Contact LP group was treated with contact LP via slit lamp laser delivery system. Non-contact LP group was treated with non-contact LP via binocular laser indirect ophthalmoscopy system. Main outcome measures were Schirmer test value, tear film break-up time (TBUT) and OSDI score at baseline and at 3 months post laser therapy. Statistical analyses were performed using SPSS version 22.0. A total of 60 eyes were recruited (30 eyes in Contact LP and 30 eyes in Non-contact LP). Contact LP showed significant reduction of TBUT (p = 0.038) and significant increase in mean OSDI score (p = 0.001) at 3 months post laser therapy. However, there was no significant difference of mean change of Schirmer test value and TBUT between the two groups except for OSDI score (p = 0.044). Both mode of laser deliveries (contact LP and non-contact LP) showed comparable effects on ocular surface disease in PDR patient that underwent laser pan retinal photocoagulation.
Hb Malay was first described in 1989 following an investigation of anaemia in a 22-year-old Malay gentleman who was homozygous for this chain variant. This Hb variant is caused by AAC AGC mutation at codon 19 of the globin gene resulting in the substitution of serine for asparagine [1]. The mutation creates cryptic RNA splice site in exon 1 of the -globin gene leading to an abnormal RNA processing. Thus, this mutation not only produces variant haemoglobin but also a mild + thalassemia phenotype [2].
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).
Alpha thalassemia is a common genetic disorder with more than 20% of the world population to be a carrier of some form of α–thalassemia, as estimated by The World Health Organization [1]. It has heterogeneity in its presentation and inheritance and characterised according to their deficient or absent in alpha globin chain involved [2]. The affected individuals may be asymptomatic with hypochromic microcytic anemia or in silent alpha thalassemia may have no clinical signs with normal to mild haematological changes [3]. Current voluntary thalassemia screening programme in Malaysia is mainly based on MCH level of less than 27 before molecular study for alpha thalassemia is done if Hb analysis showed normal results, to exclude alpha thalassemia. Accurate characterization of hematologic parameters is important for selection of appropriate molecular test to determine the carrier genotype, as the test is expensive, time-consuming and not always available. This study was aimed to evaluate the correlation of hematological parameters (Hb, RBC, MCV, MCH, RDW and platelet) with various types of deletional alpha-thalassemia among patients in HUSM.
Screening for Tuberculosis (TB) using Chest X-Rays (CXR) among high-risk individuals is essential to help reach the End TB Strategy goal in reduction of 90% in TB incidence by 2035. Even though Ministry of Health Malaysia has made screening compulsory, the number of cases detected is not encouraging. Therefore, it is essential to identify factors contributing to positive screening that would improve case detection. High-risk groups are individuals that are compulsory to be screened using chest x-ray, regardless of presence or absence of TB symptoms. A cross sectional study was done in 2016 involving individuals belonging to TB high-risk groups who underwent screening in Kedah, Malaysia. Data was obtained from the TB information system (TBIS) 104 A, an information system used for TB screening monitoring and chest x-ray report of the selected individuals. It involved 1417 individuals who were randomly selected from various health facilities in six districts of Kedah. Among all 1417 study samples, 1036 (73.1%) individuals were asymptomatic. Among the asymptomatic individuals, only 91 (8.8%) had positive CXR findings. Smokers were found to have almost 3 times the odds of having positive CXR findings compared to non-smokers [Adjusted OR (95% CI): 2.71 (1.03, 7.15), p-value
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.
Hospital-acquired infections (HAIs) are responsible for over 40% of cases in acute-care hospitals and commonly associated with catheter-sassociated urinary tract infections (CAUTIs). Current nanotechnology approach focus on improving the aseptic procedures for medical devices and manage the HAIs risk. TiO2 and ZnO nanoparticles (NPs) have been widely reported independently, to have a photocatalytic killing potential. The present study evaluates the antibacterial activity of heterojunction between TiO2 and ZnO NPs on several types bacterial pathogens model including Staphylococcus aureus, Enterococcus faecalis, Escherichia coli, Klebsiella pneumoniae, and Pseudomonas aeruginosa. The antibacterial screening test on TiO2/ZnO nanoparticles (NPs) were done under dark and light conditions with different molar ratio 25T75Z, 50T50Z and 75T25Z according to Clinical Laboratory Standards Institute (CLSI) guidelines MO2-A11. ZnO and TiO2/ZnO (25T75Z and 50T50Z) NPs at the highest concentration (1000µg/µL) showed mean diameters of the zones of inhibition (mm); (12.5 ± 0.58), (12.13 ± 0.85), and (7.25 ± 1.44) in dark condition. Increment in inhibition zones was obtained under light condition; (21.38 ± 0.48), (17.50 ± 1.0), and (12.38 ± 1.80). Findings from this study highlights the heterogeneous TiO2 and ZnO NPs could become a promising bacteriostatic and/or bactericidal agent to combat against the HAIs.
Trisomy 8 is a condition where every cell of an individual presents with an extra copy (three copies of chromosome 8. This disorder occurs when a pair of chromosomes fails to divide evenly, which results in cells containing more than two of this chromosome. Here, we report a case of mosaic trisomy 8 in a Malaysian Malay boy.Although patient in this case confirmed with T8M, he exhibited few of the characteristic features that previously were reported to be associated with T8M. However, the patient’s very young age might explain the lack of clinical presentation of these features.
Conventional anticoagulant therapy is the mainstay of medical treatment for deep vein thrombosis disorders. However,there are many complications associated with these agents such as bleeding. Hence, the search for novel anticoagulant derived from natural substances such as plants origin is in high demand nowadays. Ocimum sanctum(O.sanctum) also known as Ocimum tenuiform (OT), tulsi or holy basil from the family of Lamiaceae has been widely used for thousands of years in Ayurveda and Unani systems to cure or prevent a number of illnessessuch as headache, malaria, ulcers, bronchitis, cough, flu, sore throat and asthma. The objective is to investigate theeffect ofO. sanctum(Tulsi) aqueous leaf extract on prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time (TT) in human plasma. Coagulation activity of O. sanctum was measured via PT, APTT and TT assay in citrated plasma collected from thirty-six healthy regular blood donors. The plasma was tested against different concentrations of O. sanctum aqueous extract as follows: 0.1mg/ml, 0.5 mg/ml and 1.0 mg/ml. Result shows the aqueous extract of O. sanctum prolonged the PT and APTT assays (p0.05). The gas chromatography-mass spectrometry (GC-MS) analysis had identified the linolenic acid at 1-10% of ethanol and aqueousconcentration at different retention time which was responsible for the coagulation activities of O. sanctumin human plasma. This study suggests that O. sanctum does affect coagulation activity in human plasma and can be potentially used as naturally derived anticoagulant products in the future.
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.