The advancement of human reproductive technology has made it possible for parents with a child affected by a haematological disorder to select and bring into being, a prospective child who can act as a matched stem cell donor. This can be done through the use of preimplantation genetic diagnosis (PGD) coupled with human leukocyte antigen (HLA) typing (PGD-HLA typing), or HLA tying as a standalone procedure, where a healthy embryo, which is an HLA match to the existing sick sibling, is chosen for implantation. The creation of such a sibling (saviour sibling) is normally taken as a last resort when there is no related or unrelated matched donor.
View Article and Find Full Text PDF: Prenatal diagnosis enables detection of any disease or disability of the fetus during the pregnancy of a woman. Parents whose fetus is found to have a serious disorder from antenatal testing may terminate the pregnancy if it is permitted by the law or continue with the pregnancy to term. However, the chance of terminating a pregnancy may be denied if there is prenatal negligence by the medical practitioner in terms of diagnosis or failure to advise on the test results correctly.
View Article and Find Full Text PDFThe extraction of mountain salt from the saline waters is the basic livelihood of the Ba'kelalan communities of Sarawak. The current integrated approach is the first attempt to study the sources and geochemical processes of the saline groundwaters in this mountain region. Hence, in this study, saline groundwater samples from five existing wells in different seasons were analysed for hydrochemical parameters and multi-isotope composition (δO, δD, δS, δB and δCl).
View Article and Find Full Text PDFThe conception of saviour siblings using preimplantation genetic diagnosis coupled with human leukocyte antigen (HLA) typing or HLA typing alone is controversial and receives a wide divergence of legal responses among countries around the world. The resulting child conceived through this procedure is dubbed a 'saviour sibling' as the child can potentially act as a compatible donor for an elder ailing sibling who needs a haematopoietic stem cell transplantation. At present, the acceptability of this procedure in Malaysia is ambiguous as there is no specific statute governing assisted reproductive technology, and the guideline issued by the Malaysian Medical Council does not expressly address this issue.
View Article and Find Full Text PDFJ Gastroenterol Hepatol
October 2004
Background And Aim: Recent studies suggest that the clinical penetrance of associated hereditary hemochromatosis, defined as either the C282Y homozygote or compound heterozygote HFE genotype status, is much lower than previously thought.
Methods: We investigated the clinical penetrance and phenotypic expression of HFE-associated hereditary hemochromatosis in a community-based population of 1352 elderly female subjects with a mean age of 75 years. Serum transferrin saturation and ferritin levels were determined on all subjects bearing a C282Y mutation and a subset of wild-type C282Y subjects.