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

Amniocentesis and fetoscopy are two of several modalities used to offer information during the prenatal period of the status of the fetus. Amniocentesis is most frequently used and with continuing research is becoming an invaluable aid to prenatal diagnosis. With the recent studies of DNA characteristics of globin chains of cells obtained at amniocentesis, the need to obtain blood directly from fetal vessels to diagnose major hemoglobinopathies prenatally is rapidly diminishing. Open neural tube defects are diagnosable with alpha feto protein analysis. All chromosomal defects are accurately quantitated and more than 100 inborn errors of metabolism are predictable. Fetoscopy is a technique which has a limited utility. It should be confined to major centers where adequate midtrimester abortions are done in order to provide training for those who aspire to pursue this method. With fetal blood sampling the following conditions are detected: beta thalassemia major, Hemophilia A, sickle cell anemia, chronic granulomatous disease, galactosemia and Tay Sachs disease, all of which may be diagnosed directly. Alpha and beta thalassemia, Hemophilia B and homozygous Von Willenbrand's disease may be excluded. With fetal biopsy one can diagnose congenital bullous ichthyosiform erythroderma ichthyosis. During the last ten years the amount of information brought to our attention has also brought the expectation that the next decade will be the most fruitful period in our history in this discipline.
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PMID:Amniocentesis and fetoscopy. 714 20

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

There is an increased attention to preconception care and counseling (PCC) in the US. Midwives should include it into their practice. Even though the PCC concept is new, many midwives already know and/or practice its components, including risk assessment, health promotion, psychological and medical interventions, and follow-up. Opportunities for PCC are gynecology visits, postpartum visits, school-based programs, occupational health centers, and local health departments. Midwives can help women decide whether they are psychologically prepared for motherhood through group discussions and family-timing scenarios. They should refer women to substance abuse counseling and address physical abuse. A medical history and physical exam followed by an evaluation of any medical problems are also important. Preconception screening should include laboratory tests for hemoglobin or hematocrit, Rh factor, rubella titer, urine dipstick (protein and sugar), Pap smear, gonococcal culture, syphilis ...... and hepatitis B test. Midwives should offer women an illicit drug screen and an HIV serodiagnostic test. Additional tests recommended for some women include a tuberculosis screen, chlamydia culture or rapid screen, toxoplasmosis, herpes simplex, cytomegalovirus, varicella, hemoglobinopathies, Tay-Sachs, and karyotype. Factors which may affect sperm morphology are cigarette smoking, alcohol drinking, vitamins A and E, linoleic acid, and zinc. Other male factors which may affect pregnancy outcome are advanced age, sexually transmitted diseases, HIV, and exposure to drugs and chemicals. Midwives should determine the need to refer women for genetic counseling. They can help establish a positive environment for conception by conducting a nutritional history and counseling; promoting vitamin supplementation; by counseling about dangers of cigarette smoking, alcohol drinking, and drugs; and by keeping up to date on reproductive toxicology, environmental pollutants, and occupational hazards. Midwives should take a menstrual, contraceptive, and sexual history. Menstrual charting can help detect ovulation. Other issues needing to be addressed are infertility and choosing a care provider and birth place.
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PMID:Preconception care. An opportunity to maximize health in pregnancy. 841 Mar 47

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

The Quebec Network of Genetic Medicine (QNGM), implemented in 1971, has been an integrated program of community genetics serving the population (approximately 7.5 million) of Quebec province in Canada. QNGM reported to the Minister of Social Affairs and operated under an umbrella of universal health insurance in the province. The Network's programs have been run by members of the four university medical schools of the province under the direction of a central committee. A global annual budget was awarded to QNGM from its inception. Among its many programs, QNGM supported: (1) two newborn screening programs (using blood and urine samples) for early diagnosis, treatment and research in phenylketonuria, hereditary tyrosinemia, congenital hypothyroidism, and in a large number of other hereditary metabolic diseases; (2) follow-up of confirmatory diagnostic tests at regional centers, followed by supervision of ambulatory treatment modalities; (3) carrier screening and reproductive counseling for Tay-Sachs and beta-thalassemia diseases; (4) a spectrum of feasibility (research) studies (e.g., screening for biotinidase deficiency, neuroblastoma, hemoglobinopathies, and cystic fibrosis) to inform policy decisions. QNGM performed economic analyses of its major programs and followed prevailing ethical guidelines. Its global budget and integrated structure terminated in 1994, although some of its programs continue independently.
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PMID:Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine. 1674 43

This review considers available evidence for mechanisms of conferred adaptive advantages in the face of specific infectious diseases. In short, we explore a number of genetic conditions, which carry some benefits in adverse circumstances including exposure to infectious agents. The examples discussed are conditions known to result in resistance to a specific infectious disease, or have been proposed as being associated with resistance to various infectious diseases. These infectious disease-genetic disorder pairings include malaria and hemoglobinopathies, cholera and cystic fibrosis, tuberculosis and Tay-Sachs disease, mycotic abortions and phenylketonuria, infection by enveloped viruses and disorders of glycosylation, infection by filoviruses and Niemann-Pick C1 disease, as well as rabies and myasthenia gravis. We also discuss two genetic conditions that lead to infectious disease hypersusceptibility, although we did not cover the large number of immunologic defects leading to infectious disease hypersusceptibilities. Four of the resistance-associated pairings (malaria/hemogloginopathies, cholera/cystic fibrosis, tuberculosis/Tay-Sachs, and mycotic abortions/phenylketonuria) appear to be a result of selection pressures in geographic regions in which the specific infectious agent is endemic. The other pairings do not appear to be based on selection pressure and instead may be serendipitous. Nonetheless, research investigating these relationships may lead to treatment options for the aforementioned diseases by exploiting established mechanisms between genetically affected cells and infectious organisms. This may prove invaluable as a starting point for research in the case of diseases that currently have no reliably curative treatments, e.g., HIV, rabies, and Ebola.
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PMID:Genetic diseases conferring resistance to infectious diseases. 3025 68

Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X-linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry-based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors.
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PMID:International perspectives on the implementation of reproductive carrier screening. 3177 70