Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Screening for genetic abnormalities is an integral part of obstetrics. Prior to initiating screening, however, several prerequisites must be met: (i) capacity to alter clinical management, (ii) cost effectiveness, (iii) reliable means (usually assays) of assessment, and (iv) capacity to handle problems. In all pregnancies one should determine in systematic fashion whether family history places a pregnant woman at increased risk over the background risk of 2-3% congenital anomalies. All women over age 35 years at delivery should be offered prenatal cytogenetic testing, and women of all ages should be offered maternal serum alpha-fetoprotein screening for neural tube defects. Screening ostensibly normal populations is appropriate in certain ethnic groups to determine heterozygosity for selected disorders: Blacks for sickle-cell anaemia, Mediterranean people for beta-thalassaemia, Southeast Asians and Filipinos for alpha-thalassaemia, Ashkenazi Jews and perhaps French-Canadians for Tay-Sachs disease. Cystic fibrosis screening (delta F508 mutations) is not currently recommended for the general populations, but should be offered to relatives of an individual having delta F508 cystic fibrosis. Irrespective of the extent of screening programmes for Mendelian traits, the mutant allele will remain in the general population because by far the greatest genetic load lies in clinically normal heterozygotes, affected contributing far less to the load despite the obvious clinical effect.
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PMID:Screening for fetal and genetic abnormalities. 172 71

This report discusses the role of prenatal screening in preventing congenital abnormalities or, when prevention is not possible, in avoiding the conception or the birth of those who would have untreatable abnormalities. Women who are found by screening not to be immune to rubella can be safely vaccinated prior to pregnancy; those found to be at risk of having children with genetic disorders such as Tay-Sachs disease or thalassemia have the option of avoiding the conception of affected offspring. Screening during pregnancy permits the primary prevention of Rh disease and its sequelae when it results in the prophylactic administration of Rh-immune globulin to unsensitized Rh-negative women. Maternal serum alpha-fetoprotein screening identifies pregnant women who are at increased risk of carrying fetuses with neural tube defects or Down's syndrome, giving them the option of avoiding the birth of affected fetuses through abortion. Recombinant DNA technology will permit screening for many more genetic disorders as the disease-related genes and mutations are identified. For many of these disorders, the ability to predict the risk of disease will antedate preventive and therapeutic interventions by many years. During this lag phase, issues concerning the validity of the tests, the severity of the conditions for which screening is offered, the safety of the interventions, and the autonomy of the pregnant women in deciding to be screened are important.
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PMID:Prenatal screening: when and for whom? 214 72

Increased life expectancy in patients with homozygous beta-thalassaemia consequently increases the risk for neoplastic diseases. This study was conducted to assess the levels of five common tumour markers in thalassaemic patients and to investigate possible correlations to demographical, clinical and laboratory data. Eighty-five patients (44 female and 41 male) with homozygous beta-thalassaemia (mean age = 27.92 +/- 12.5), on regular blood transfusions and adequate chelation treatment, and 60 sex and age- matched healthy controls were enrolled in the study. Blood samples for the determination of carcinoma antigen (CA) 15.3, CA 125, CA 19.9, carcinoembryonic antigen (CEA) and alpha-fetoprotein (a-FP) were collected from every subject. Results showed that 69% of the thalassaemic patients had abnormal levels of CA 15.3, whereas only sporadic cases had increased levels of CA 125 and CA 19.9. On the contrary, all controls had normal levels of CA 15.3, CA 19.9 and CA 125. CEA and a-FP were within reference ranges both in the thalassaemic and in the control group. Levels of CA 15.3 were significantly lower in patients aged less than 20 years compared to older patients. Male patients had significantly increased levels of CA 15.3 compared to female patients. Relatively recent studies show an increased expression of CA 15.3 on progenitor cells of the erythroid lineage and increased amounts of circulating progenitor cells even in well-transfused thalassaemic patients. However, it seems that there are also other factors contributing to this phenomenon. In conclusion, our results indicate that CA 15.3 seems to be an unreliable marker of occult malignancy in patients with beta-thalassaemia. However, more studies are needed to support these preliminary results.
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PMID:Evaluation of serum tumour markers concentrations in patients with homozygous beta-thalassaemia in relation to demographical, clinical and biochemical parameters. 1766 8