Identification of a novel β0 - thalassaemia mutation in a greek family and subsequent prenatal diagnosis

We present a case in which a Greek couple was considered not to be at risk of having children with homozygous β-thalassaemia, an assessment based largely on the father's belief that he carried α-thalassaemia. After their first child was diagnosed with homozygous β-thalassaemia, the case was re-assessed and both parents were shown to have the haematological profile of β-thalassaemia trait. Screening for the common Mediterranean mutations demonstrated that the mother carries the IVS-1 nt 110 G→A β⁺ -thalassaemia mutation. Direct nucleotide sequencing of PCR-amplified DNA revealed that the father carries a novel β⁰-thalassaemia mutation, frameshift codons 9/10 (+T). The couple's second pregnancy was terminated after prenatal testing revealed that the fetus had inherited both parental mutations. This case illustrates the need to confirm the carrier status of individuals prior to assessing their genetic risks, and highlights the importance of being able to identify rare or novel β-thalassaemia mutations.     

Assessment of personal integrated exposure to fine particulate matter of urban residents in Hong Kong

Metropolitan residents are concerned about their exposure to airborne pollutants. But establishing these exposures is challenging. A compact personal exposure kit (PEK) was developed to evaluate personal integrated exposure (PIE) from time-resolved data to particulate matter with aerodynamic diameter less than 2.5 μm (PM_2.5) in five microenvironments, including office, home, commuting, other indoor activities (other than home and office), and outdoor activities experienced both on weekdays and weekends. The study was conducted in Hong Kong. The PEK measured PM_2.5, reported location and several other factors, stored collected data, as well as reported the data back to the investigators using global system for mobile communication (GSM) telemetry. Generally, PM_2.5 concentrations in office microenvironment were found to be the smallest (13.0 μg/m³), whereas the largest PM_2.5 concentration microenvironments were experienced during outdoor activities (54.4 μg/m³). Participants spent more than 85% of their time indoors, including in offices, homes, and other public indoor venues. On average, 42% and 81% of the time were spent in homes, which contributed 52% and 79% of PIE (during weekdays and weekends, respectively), suggesting that improvement of air quality in homes may reduce overall exposures and indicating the need for actions to mitigate possible public health burdens in Hong Kong. This study also found that various indoor/outdoor microenvironments experienced by urban office workers cannot be accurately represented by general urban air quality data reported from the regulatory monitoring. Such personalized air quality information, especially while in transit or in offices and homes, may provide improved information on population exposures to air pollution.

Implications: A newly developed personal exposure kit (PEK) was used to monitor PM_2.5 exposure of metropolitan citizens in their daily life. Different microenvironments and time durations caused various personal integrated exposure (PIE). The stationary monitoring method for PIE was also compared and evaluated with PEK. Positive protection actions can be taken after understanding the major contribution to PM_2.5 exposure.     

Quality of stormwater runoff from an urbanised watershed

A field monitoring network was set up within the Stamford canal watershed in 1989 to study both the quantitative and qualitative aspects of storm runoff from this urbanised catchment. The data acquisition equipment comprised a continuous recording rain gauge, a water level recorder and an automatic water sampler capable of sampling storm runoff at preset intervals during rainfall events. Water samples were collected after each storm and laboratory tests were carried out on the physical and chemical properties of the storm water. Preliminary findings on the temporal variations of stormwater quality during single storms and the effects of antecedent dry weather period on the quality are presented. The average ranges of some of the significant quality parameters found in the storm runoff were also established. The quality of storm runoff from the catchment under study was found to be of an acceptable level and could potentially be developed as a water catchment area.