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)

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

In Oklahoma since the early 1990s, all newborns have been screened for four metabolic conditions: phenylketonuria, hypothyroidism, galactosemia and hemoglobinopathies. In 2002, 38 affected babies were diagnosed and one expects they are saved from the complications of late diagnosis such as mental retardation or death from sepsis. With advances in genetics and improved biochemical assays, 86% of states now screen for more disorders than Oklahoma, up to 37 in Mississippi. Six recent patient vignettes illustrate the mortality and morbidity of conditions that are screened for elsewhere but not in Oklahoma. In 2001, the Oklahoma Genetics Advisory Council recommended adding three disorders and the State Health Department forecasts that implementation may be complete in 2007. For now, when a patient asks, "Will my baby be screened for as many metabolic conditions as possible?", two answers represent either the public health or the private health care view. The public health answer is, "The state requires screening for four conditions." The health care system answer is, "We can work with you to get 44 conditions tested for, but it will cost money, may not be reimbursed, and has not been proven effective when done on an individual basis." This dilemma, not unique to newborn screening, might be resolved if professional and public opinion strongly supported early expansion.
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PMID:Expanding metabolic screening of newborns: can the health care industry do better than public health? 1461 2

We present the evolution, organization and results of the National Neonatal and High Risk Screening Program in Costa Rica (PNT). This program has been working uninterruptedly for more than fourteen years. Costa Rica currently has a literacy rate of 95%. To August 2004 the rate of infant mortality was 9.74 per 1000 births and to 2003, life expectancy was 76.3 years for men and 81.1 years for women. The control of infectious and parasitic diseases, as well as of severe malnutrition, has given room to a prevalence of chronic diseases with a pathology profile similar to that of a developed country. The clinical observation, mainly starting from early 70s, of a growing number of patients with mental retardation and other disabilities caused by congenital hypothyroidism and hereditary metabolic diseases that could have been prevented in many cases with an early diagnosis and opportune treatment, led us to the decision to implement a systematically massive neonatal screening for these diseases. The presence of a single Public System of Social Security in Costa Rica, which currently includes from primary health care up to the hospitals of tertiary attention, with a single Children's Hospital for the whole country, as well as communication facilities, are factors that offered, in principle, favorable conditions for this effort, even for a developing country. To September 2004, 835,217 children have been screened. There is a coverage of 95.1% of the newborns in the country. Also to this date, 259 children with congenital hypothyroidism, 18 with phenylketonuria, 20 with the maple syrup disease, 30 with congenital adrenal hyperplasia and 10 with galactosemia have been detected, confirmed and treated, for a total of 337 children that were spared of mental retardation, other disabilities and even death. Massive neonatal screening for organic acidemias recently started in June of 2004. Cystic fibrosis is under a pilot study and the screening for hemoglobinopathies and toxoplasmosis is planned. The Center for Prevention of Disabilities, which started its functions on September 23, 2002, made feasible to integrate neonatal screening, high risk screening and diagnostic confirmation of the diseases now included in the national screening program as well as those to be added in the future.
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PMID:Evolution and innovations of the National Neonatal and High Risk Screening Program in Costa Rica. 1736 38

Moyamoya syndrome is a rare diagnosis that has been linked to a small number of hemoglobinopathies. Children with Moyamoya syndrome tend to present with transient ischemic attacks, mental deficiency, and/or neurological deficits. We describe a case of a 15-year-old Cambodian male with HbE/beta-thalassemia who was found to have left Moyamoya syndrome as part of an evaluation for growth hormone deficiency. The link between Moyamoya syndrome and HbE/beta-thalassemia may be multifactorial, but Moyamoya syndrome is an important consequence to consider in children with HbE/beta-thalassemia.
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PMID:A case of Moyamoya syndrome and hemoglobin E/beta-thalassemia. 1900 8