Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical chemistry is going through an identity crisis, squeezed between automation (de-skilling) on the service side and molecular genetics in research. Automated routine estimations are now carried out and interpreted by machines; the skilled staff members required are more likely to have degrees in electronics than medicine or biochemistry. The role of molecular genetics is more ambiguous; it is inherently reductionist, in that it attempts to explain most clinical phenomena in terms of DNA sequence alone. This has been remarkably successful for single-gene defects (such as those causing Duchenne muscular dystrophy, hemoglobinopathies, cystic fibrosis, and ataxias) and may well prove equally so for Alzheimer's disease, cancer, heart disease, and schizophrenia. DNA diagnosis is not yet routine, but because of technical advances such as gene amplification ("PCR") and high-sensitivity gene-detection assays, it may soon become so, not only in major centers but also in local pathology laboratories and general practice. Clinical chemists must decide whether they wish to respond to this new and stimulating challenge by retooling and retraining. Should anyone be permitted into clinical chemistry during the 1990s without knowledge of both electronics and molecular genetics? Will there be a clinical chemistry in the twenty-first century other than through molecular genetics? This article is a personal response to these questions.
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PMID:Molecular genetics and the transformation of clinical chemistry. 233 3

Prenatal diagnosis of genetic abnormalities requires nucleated fetal cells which are currently obtained by invasive techniques such as amniocentesis, chorionic villus sampling and percutaneous umbilical blood sampling. Each of these entails a risk to the foetus and sometimes to the mother. Nucleated fetal cells have been reported to be present in maternal blood. Recovery of fetal cells from maternal blood would allow a noninvasive prenatal diagnosis. Their rarity (1 fetal cell for 10(6) to 10(8) maternal cells) presents a technical challenge. Due to the small number of fetal cells, sensitive analysis techniques such as PCR and FISH are necessary. Some degree of fetal cells enrichment in the maternal blood sample often precedes the analysis. Different techniques are used for the enrichment: discontinuous density gradient, magnetic activated cell sorting, fluorescence activated cell sorting, micromanipulator.... Several prenatal diagnosis have already been performed from maternal venous blood samples: diagnosis of gender, RhD blood genotype, Duchenne muscular dystrophy and hemoglobinopathy by PCR, diagnosis of gender and chromosome aneuploidy by FISH. Many teams are working on this subject. It is difficult to compare the studies because the techniques of enrichment and analysis vary. We review the different strategies chosen for prenatal diagnosis from maternal blood and discuss the results.
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PMID:[Fetal cells in the maternal blood: a step towards non-invasive prenatal diagnosis? Review of the literature]. 979 74

We conducted an empirical pilot study to assess the attitudes of health care professionals (HCPs) to the personal identification of heterozygote carrier status for two autosomal recessive conditions (cystic fibrosis and a hemoglobinopathy) and for an X-linked disorder (Duchenne muscular dystrophy) using the Health Orientation Scale (HOS) and a modified HIV Stigma Scale. Attitudes towards carrier identification of children were also assessed. Three hundred and ten of 742 (42%) eligible HCPs fully or partly completed the survey. As measured with the HOS and the modified HIV scale, respondents had a more negative reaction to the hypothetical discovery of being a carrier for an autosomal recessive genetic condition that was less likely given their self-identified ancestry. Female respondents had a more negative reaction on both scales to being a carrier for an X-linked disorder than men thought their partners would feel. However, the differences found on the HOS and modified HIV scale are small and their clinical relevance unknown. Fifty-seven percent of respondents agreed that parents should tell their children to keep their carrier status private with many (44%) agreeing that children who learn that they are carriers may suffer from a decrease in self-esteem. The vast majority of respondents would inform immediate family members and HCPs of their carrier status, but would be unlikely to share this information with neighbors or employers. Further study is needed to develop a heterozygote genetic carrier stigma scale.
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PMID:A pilot study to determine whether health care professionals perceive stigma in heterozygote carrier identification and disclosure decisions. 2173 84