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)

1. In a review of methods developed for the identification of fetal malformations, the technique, risks and results of amniocentesis are presented. 2. Large series already published have demonstrated the relative simplicity and feasibility of the procedure as well as current indications for its utilization. These include the detection of chromosomal anomalies, the determination of sex (in certain sex-linked disorders), documentation of enzymatic and metabolic deficiencies, and the demonstration of open lesions of the neural tube by appropriate techniques. 3. Experience with over 500 cases personally tested by the authors entirely confirms the major indications for and benefits of this modern method for the detection and prevention of severe congenital anomalies during early pregnancy. 4. The identification of chromosomal alterations is currently the major objective of the method. Increased risks are associated with pregnancies involving a maternal age of 35 years or older (which account for 1-3% of aneuploidies), the birth of a previous infant with free trisomy 21 (1% recurrence risk) or secondary to a parental chromosome translocation (as much as 10% risk of aneuploidy). Fetal karyotyping for determination of sex, in cases where the mother is a carrier of an X-linked recessive gene (on average, 50% of male offspring will be affected), is an inadequate method of diagnosis to be utilized only until alternative techniques render possible specific diagnosis of the anomalies under consideration (hemophilias A and B, muscular dystrophy, etc). 5. Several of these techniques are now nearing development through the advent of fetoscopy and advanced ultrasound methodology, and have already been applied to the detection of certain sex-linked disorders and also for diagnosis of hemoglobinopathies (thalassemias, sickel cell anemia) and other conditions requiring the obtaining of fetal blood for diagnosis. Technology allowing direct examination of fetal parts by means of optical instruments is particularly useful in cases where a severe fetal morphologic malformation cannot currently be identified by indirect visualization (ultrasound) or by analysis of cytogenetic or molecular markers. 6. Pathological accumulations of alpha-fetoprotein which are associated with diverse feto-placental abnormalities (particularly open malformations of the neural tube) can be detected in the amniotic fluid and/or maternal blood. In extension of this approach, it is foreseeable that conditions existing prenatally will be diagnosed in a growing number of cases from the study of fetal cells and molecules which can be isolated from the venous blood of pregnant women. This will become feasible as a result of some well-developed techniques which allow separation of fetal from maternal cells and metabolites, and also to some extremely fine analytic techniques, notably examination of the DNA itself by means of restriction enzymes.
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PMID:[Prenatal diagnosis. Review, personal and prospective studies]. 8 63

A general consideration of the pathogenesis of the various metabolic diseases which produce mental deficiency suggests that perturbation of the one carbon (folate) cycle may be important. Secondly, a review of diseases having some symptoms in common with trisomy 21 suggests the evidence of : a collagen disturbance (hypothyroidism and iminodipeptidurial) ; an oxygen disturbance (hypothyroidism and hemoglobinopathies) ; a cholinergic distrubance (Alzheimer's disease) ; a one-carbon-cycle disturbance (Lesch-Nyhan's disease). Thirdly, the peculiar pathology of trisomy 21 allows to find also a cholinergic disturbance and a disturbance close to the 10 formyl-tetrahydrololate entry of the folate cycle. Finally, an analysis of the possible effect of the excess of superoxide dismutase A and of the increase of glutathion peroxidase leads to the suspicion that a difficulty exists of dioxygenations and of non aromatic hydroxilations with a relative retardation of some FAD requiring reactions. A simplified scheme shows that these metabolic deviations could provoke a disturbance of the collagen and of synthesis of chemical mediators, in accordance with the indications furnished by the compared pathogenesis of the various affections studied. These heuristic reflexions open the way to further investigations.
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PMID:[Biochemical investigations and trisomy 21 (author's transl)]. 22 17

Birth defects increase the risk of speech, language, and hearing disorders in childhood. The prevalence of particular congenital anomalies varies from one racial and ethnic group to another. Some conditions such as the hemoglobinopathies, polydactyly, and external ear malformations are more common among black people. Other birth defects are rarer among black children, notably cleft lip and palate, neural tube defects, and phenylketonuria. The more common defects of Down's syndrome, neurofibromatosis, and cerebral palsy appear to occur in equal frequency in black and white Americans.Speech-language pathologists, audiologists, and other health professionals who work with black children with birth defects must be familiar with the special problems and the positive features reflected in this population. Difficulties in obtaining adequate medical care, poor health and nutrition, and inadequate financial support are problems plaguing the poor. However, the shared responsibility assumed by the church, the community, and the extended family often results in positive acceptance of the handicapped child. Many families rely on folk medicine whose remedies can often be combined with traditional therapies for the ultimate benefit of the patient.Health professionals must assume a managerial role to ensure that services reach the child with syndrome-related speech, language, and hearing problems.
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PMID:Syndromes, communicative disorders, and black children. 371 79

The uses of available record systems in epidemiologic studies of reproductive toxicology are described with reference to New York State. The available record systems (and relevant reproductive end points) described include a newborn screening program for metabolic diseases and hemoglobinopathies (relevant to point mutations); chromosome registries and prenatal cytogenetics (for chromosome anomalies); live birth certificates (for birth defects, birthweight, sex ratio, etc); fetal death certificates (for spontaneous fetal deaths); and a statewide cancer registry (for childhood cancers and transplacental carcinogenesis). The uses and limitations of these record systems are discussed, along with examples of their use in descriptive and analytic epidemiologic studies. Descriptive studies outlined include investigations of temporal and geographic trends in birth defects, birthweight, and fetal deaths, with reference to environmental questions (Love Canal, nuclear power plants). Analytic studies described concern parental occupation in relation to specific birth defects (neural tube defects and Down syndrome) and maternal use of contraceptives.
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PMID:Uses of available record systems in epidemiologic studies of reproductive toxicology. 622 Jun 2

New reproductive genetics means recently developed techniques to prevent the birth of children with specific defects or genetic diseases by testing individuals for sickle cell anemia, the thalassemias, Tay-Sachs disease, cystic fibrosis, or Down syndrome. Third World health services have many deficiencies with high maternal mortality rates (30-40 fold higher than in developed countries), the low percentage of births delivered by health personnel, the high rates of low birth weight babies, and high child malnutrition and infant mortality rates. The main issues in women's reproductive health are fertility regulation, abortion, maternal mortality, sexually transmitted diseases, and infertility. As a result of expansion in contraceptive use worldwide, the total fertility rate in developing countries has declined from 6.1 in 1965 to 3.9 in 1990. It is estimated that, worldwide, 36-53 million induced abortions are performed each year, most of them in developing nations. WHO estimates that more than 500,000 women die each year because of complications of pregnancy, most in developing countries. More than 95% of the 13 million estimated deaths of children under 5 years of age have occurred in these countries. Approximately 200 million people carry a potentially pathologic hemoglobinopathy gene, and about 250,000 children are born every year with hemoglobinopathy, most of them in the developing world. Reproductive genetic testing in big cities and in private for-profit ventures cater to the socioeconomic elite. Amniocentesis is often misused for fetal sex determination to abort female fetuses in India. Currently, in Cuba virtually every pregnant woman is tested for sickle cell trait and maternal serum alpha-fetoprotein levels between 15 and 20 weeks of gestation. It is predicted that the judicious use of reproductive genetic testing will be possible when health and quality of life issues are addressed properly.
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PMID:Reproductive health and genetic testing in the Third World. 840

The recent report of the U.S. Preventive Services Task Force is a compendium of the scientific evidence supporting clinical preventive services that might be offered by primary care physicians. Pediatric recommendations include height, weight and blood pressure measurements, neonatal screening for hemoglobinopathies and counseling about injury prevention, diet and exercise, sexual behavior, substance abuse and dental health. Lead screening is recommended in communities with a high prevalence of elevated lead levels. Adult recommendations include measurement of blood pressure and weight, selective screening for elevated total cholesterol level, screening persons over age 50 for colorectal cancer, screening women for cervical cancer at least every three years, and screening women 50 to 69 years of age for breast cancer with mammography every one to two years. Counseling patients about substance abuse, diet and exercise, injury prevention, sexual behavior and dental health is recommended. Women of childbearing age should receive folic acid supplementation to prevent neural tube defects if they should become pregnant. Multiple marker testing is recommended for women over age 35 to screen for Down syndrome. Immunization recommendations are similar to those of other national groups.
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PMID:U.S. Preventive Services Task Force: highlights of the 1996 report. 931 58

With increasing concerns regarding rapidly expanding health care costs, cost-effectiveness analysis (CEA) provides a methodology to assess whether marginal gains from new technology are worth the increased costs. In the arena of prenatal diagnosis, particular methodological and ethical concerns include whether the effects of such testing on individuals other than the patient are included, how termination of pregnancy is included in the models, redundancy of screening and diagnostic methods, and how screening may reassure or cause anxiety in patients depending on their results. The existing literature has demonstrated cost-effectiveness of screening and diagnosis of neural tube defects, Down syndrome, and cystic fibrosis in the general population. Screening for genetic disorders which have a higher prevalence among particular groups has also been shown to be cost effective, including diseases such as hemoglobinopathies and Tay-Sachs disease. Understanding the methodology and salient issues of CEA is critical for researchers, editors and clinicians to accurately interpret results of the growing body of cost-effectiveness studies in prenatal diagnosis.
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PMID:Cost-effectiveness analysis of prenatal diagnosis: methodological issues and concerns. 1569 15

When moyamoya vasculopathy results from an associated disease, this vasculopathy is then referred to as moyamoya syndrome. Moyamoya syndrome has been reported in association with sickle cell disease, neurofibromatosis type 1, Down syndrome, radiation exposure, and other predisposing factors. Other than sickle cell disease, rare hemoglobinopathies, such as hemoglobin Fairfax and hemoglobin Alesha, have been reported to occur with moyamoya. We present a case of moyamoya syndrome associated with an unstable hemoglobinopathy, hemoglobin Southampton (Casper). This is the first reported case of moyamoya associated with this hemoglobinopathy.
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PMID:Moyamoya syndrome associated with hemoglobin Southampton (Casper). 2534 87

An 11-year-old boy with Down syndrome and acute lymphoblastic leukemia developed hepatic dysfunction after only 10 months of treatment. MRI revealed severe iron deposition in the liver, pancreas, and heart. In stark contrast to what is seen in hemoglobinopathies, pancreatic and cardiac iron overload occurred with relatively low transfusion exposure and in a very short time period in this patient. Although extensive experience managing iron overload in hemoglobinopathies informs our approach in other diseases, it is clear that factors not present in hemoglobinopathies may be operative in patients with malignancy undergoing intense chemotherapy that lead to high levels of free iron and rapid loading of the heart and endocrine organs.
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PMID:Early Cardiac Iron Overload in a Child on Treatment of Acute Lymphoblastic Leukemia. 2628 84