Prenatal diagnosis of β-thalassemia in Southern Punjab,Pakistan

Pakistan has a large population of more than 150 million people with an overall carrier frequency of approximately 5.6% for β-thalassemia. Punjab is the largest province of the country having more than 50% of the population. The state of β-thalassemia is alarming as consanguinity is very high (>81%) and the literacy rate is low in South Punjab. A thalassemia prevention program is the need of the hour in this part of Pakistan. In this study, we initiated awareness, screening, and characterization of the mutations causing β-thalassemia as well as a genetic counseling program mainly in the districts of Faisalabad and D.G. Khan to establish prenatal diagnosis, a facility previously unavailable in this region for disease prevention. A total of 248 unrelated transfusion-dependent children and the available members of their families were screened to characterize the mutations and identify the carriers. Genetic counseling was provided to these families and prenatal diagnosis offered. In the samples analyzed, 11 β-thalassemia mutations and three hemoglobin variants were detected mainly by using the Monoplex and Multiplex ARMS-PCR. First-trimester prenatal diagnosis was carried out through chorionic villus sampling (CVS) in seven pregnancies at risk. As a result of our campaign, 145 carrier couples planning to have more children gave their consent to have retrospective prenatal diagnosis in every pregnancy in future. A cooperative trend and a positive attitude toward the prevention of β-thalassemia were noticed in the families with affected children and in the general population. Copyright © 2006 John Wiley & Sons, Ltd.     

Evaluation of engine performance and exhaust emission characteristics in a diesel engine using isobutanol— Calophyllum inophyllum biodiesel—diesel ternary blends

Environmental Science and Pollution Research - The availability of natural energy resources and the environmental issues are the most significant issues that are often highlighted by the world...     

Phytoaccumulation prospects of cadmium and zinc by mycorrhizal plant species growing in industrially polluted soils

The natural vegetation growing along a wastewater channel was subjected to analyze the uptake of Cadmium (Cd) and Zinc (Zn) and their subsequent accumulation in aboveground and underground plant parts. Species which were mycorrhizal and growing in soils receiving industrially contaminated wastewater were collected along with their rhizospheric soil samples. The nearby uncontaminated control (reference) area was also subjected to sampling on similar pattern for comparison. Both Cd and Zn concentrations were significantly higher in soils of the study area as compared to the reference site. Five plant species i.e. Desmostachya bipinnata, Dichanthium annulatum, Malvastrum coromandelianum, Saccharum bengalense, and Trifolium alexandrinum were analyzed for metal uptake. The maximum phytoaccumulation of Cd was observed in Desmostachya bipinnata (20.41 μg g⁻¹) and Dichanthium annulatum (15.22 μg g⁻¹) for shoot and root tissues, respectively. However, Malvastrum coromandelianum revealed maximum Zn accumulation for both the shoot and the root tissues (134 and 140 μg g⁻¹, respectively). The examination of cleared and stained roots of the plants from both the areas studied revealed that all of them were colonized to a lesser or a greater degree by arbuscular mycorrhizal (AM) fungi. The Cd hyperaccumulating grasses i.e. Desmostachya bipinnata and Dichanthium annulatum, from study area had smaller root:shoot (R/S) ratio as compared to those growing on reference area indicating a negative pressure of soil metal contamination. The lower R/S ratio in the mycorrhizal roots observed was probably due to increased AM infection and its mediatory role in soil plant transfer of heavy metals. Furthermore, comparatively lower soil pH values in the study areas may have played a key role in making the overall phytoavailability of both the metals. Consequently variations in Cd and Zn tissue concentration among species were observed that also indicate the phytoaccumulation potential of the native species.