MUTATIONAL PROFILES OF F8 AND F9 IN A COHORT OF HAEMOPHILIA A AND HAEMOPHILIA B PATIENTS IN THE MULTI-ETHNIC MALAYSIAN POPULATION

Background: Haemophilia A (HA) and Haemophilia B (HB) are X-linked blood disorders that are caused by various mutations in the factor VIII (F8) and factor IX (F9) genes respectively. Identification of mutations is essential as some of the mutations are associated with the development of inhibitors. This study is the first comprehensive study of the F8 mutational profile in Malaysia. Materials and methods: We analysed 100 unrelated HA and 15 unrelated HB patients for genetic alterations in the F8 and F9 genes by using the long-range PCR, DNA sequencing, and the multiplex-ligation-dependent probe amplification assays. The prediction software was used to confirm the effects of these mutations on factor VIII and IX proteins. Results: 44 (53%) of the severe HA patients were positive for F8 intron 22 inversion, and three (3.6%) were positive for intron 1 inversion. There were 22 novel mutations in F8, including missense (8), frameshift (9), splice site (3), large deletion (1) and nonsense (1) mutations. In HB patients, four novel mutations were identified including the splice site (1), small deletion (1), large deletion (1) and missense (1) mutation. Discussion: The mutational spectrum of F8 in Malaysian patients is heterogeneous, with a slightly higher frequency of intron 22 inversion in these severe HA patients when compared to other Asian populations. Identification of these mutational profiles in F8 and F9 genes among Malaysian patients will provide a useful reference for the early detection and diagnosis of HA and HB in the Malaysian population

Substrate-integrated waveguide (SIW) microwave sensor theory and model in characterising dielectric material : A review

Microwave sensors offer appealing features such as susceptibility, quick response, and non-invasiveness, making them valuable tools for highly accurate measurements of material characterisation. A wide range of techniques, including cavity waveguide, planar transmission line, cavity waveguide perturbation, open-ended coaxial probe, and free-space transmission, have been employed to characterise materials that are essential for their cost-effectiveness, ease of manufacturing, high sensitivity, good quality factor (Q-factor), and compact size, allowing them to be applied to different material types. Among the microwave sensor types, the substrate-integrated waveguide (SIW) has emerged as a promising technology in order to characterise materials in an efficient manner. This paper presents a review of the current state and potential opportunities of SIW microwave sensors in the characterisation of dielectric materials. It provides insights into various design principles, techniques, and applications of SIW microwave sensors across different sectors, highlighting their advantages and limitations compared to conventional waveguide-based sensors. Furthermore, the paper summarises several fabrication methods that can be implemented for SIW microwave sensors to enable the production of efficient and reliable sensors. Additionally, the future directions provided in this paper aim to contribute to the ongoing development and optimisation of SIW-based microwave sensors for accurate and efficient dielectric material characterisation. Overall, this review article serves as a beneficial resource for new researchers seeking to understand the role of SIW microwave sensors in material characterisation. It outlines the current status, opportunities, and potential advancements of SIW sensors, shedding light on their significance and potential impact in the field of material characterisatio

Hardware Development of Dual-Modality Tomography Using Electrical Resistance and Ultrasonic Transmission Tomography for Imaging Liquid and Gas

In decades, single-modality technique focuses on particular application such as liquid/gas, gas/solid, liquid/liquid and liquid/solid which has drawbacks in imaging complex flow with multiple components. This paper focuses on the development of dual-modality tomography system (DMT) integrating ultrasonic tomography and electrical resistance tomography (ERT) to visualize cross-sectional images of two-phase liquid/gas in vertical column. A combination of soft-field and hard-field tomography system measures different physical parameters of two-phase liquid/gas specific of two different material properties which are conductivity (σ) and acoustics impedance (Z). A DMT system is developed with 16 units of ultrasonic transceiver sensors, and 16 units of ERT electrode positioned alternately on a single-plane arrangement to perform measurement simultaneously. The reconstructed tomographic images obtained from measurement data from these two modalities are then fused into a single tomographic image by employing discrete wavelet transform (DWT)

A study on the frequency of iron deficiency and thalassaemia in blood donors at Pusat Darah Negara, Kuala Lumpur

This study was done to identify lood donors with thalassaemia and iron deficiency. A cross sectional study was carried out at Pusat Darah Negara (PDN), Kuala Lumpur in November 2003. Methods: Full blood counts were done on 242 blood donors (166 males and 76 females) Hb analysis and serum ferritin assay were done for all the samples. The first time donors were used as controls. Results: Only 20 (8.3%) donors had MCV Ferritin done for their iron status and if their MCV and MCH are low, Hb analysis for thalassaemia or haemoglobinopathy

Molecular basis of Rh blood group system in the Malaysian population

Background: Rh molecular studies have been previously mainly conducted in Caucasians and African population. There is a limited data on the molecular basis for Rh genotypes among Asians. Aims: This study aims to characterize the Rh genes and frequency of the various RH genotypes among blood donors in National Blood Centre (NBC), Kuala Lumpur. Materials and Methods: A total of 1014 blood samples were obtained from blood donors from four different ethnic groups (360 Malays, 434 Chinese, 164 Indians and 56 others). Serological and molecular analysis of all 1014 blood samples were performed. An automated deoxyribonucleic acid sequencing analysis was performed. Results: Rh phenotypes and RH genotypes showed heterogeneity and significant association with ethnicities. Discrepancies in allele D, C/c and E/e between phenotypes and genotypes results were observed. Discrepancy results in allele D showed significant association with the ethnic groups of the blood donors in NBC. There were multiple novel mutations (23) and published mutations (5) found in this study. Significant associations between discrepancy results and mutations were found in allele D and C/c. Conclusion: Performing RH molecular analysis in Malaysian population provided the basic database for the distribution of Rh genotypes of donors from major ethnic groups in Malaysia