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)

The number of erythrocytes adopting the sickled configuration in rabbit aqueous was determined with a masked counting technique in vitro and in vivo. The percentage of cells that became sickled in aqueous humor was greater than that observed in a control salt solution and in the donor blood itself. Aqueous humor, therefore, can be considered a particularly deleterious medium for erythrocytes having a propensity for sickling. Blood samples from six donors with systemically severe hemoglobinopathies (SC, Sthal, and SS) had relatively high levels of hemoglobin S and, in general, showed faster and more frequent sickling than did blood samples from donors with low levels of hemoglobin S (one SS patient, whose chronic blood transfusion regimen had replaced most of his hemoglobin S with normal hemoglobin, and two AS patients). Even erythrocytes from sickle cell trait cases, however, were capable of sickling when immersed in acqueous humor.
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PMID:Sickled erythrocytes, hyphema, and secondary glaucoma: IV. The rate and percentage of sickling of erythrocytes in rabbit aqueous humor, in vitro and in vivo. 46 Aug 16

The prevelance of IDA in industrialized countries has declined in recent decades, but there has been little change in the worldwide prevalence. IDA is currently estimated to affect more than 500 million people. Recent studies have indicated that anemia per se, the most common manifestation of iron deficiency, is less important from a public health standpoint than liabilities associated with tissue iron deficiency. The most important of the latter are an impairment in psychomotor development and cognitive function in infants and preschoolers, a deficit in work performance in adults, and an increase in the frequency of low birth weight, prematurity, and perinatal mortality in pregnancy. There have been several recent advances in combatting nutritional iron deficiency. One of the major problems has been in distinguishing iron deficiency from other causes of anemia seen epidemiologically such as malaria, HIV infection, chronic inflammation, hemoglobinopathies, and protein energy malnutrition. When combined with serum ferritin and hemoglobin determinations, the serum transferrin receptor assay is a valuable addition in epidemiologic surveys because it provides a quantitative measure of functional iron deficiency and it distinguishes true IDA from the anemia of chronic disease. The most difficult challenge is to develop effective methods of supplying iron to large segments of a population. Supplementation with iron tablets is suitable for only brief periods of need such as during pregnancy. The poor compliance with existing supplementation programs is believed to be due mainly to the gastrointestinal side effects of oral iron which can be eliminated by the use of a gastric delivery system. The most effective long-term strategy is to increase the intake of bioavailable iron in the diet. The customary approach has been to fortify a food staple such as wheat, rice, sugar, or salt, and thereby increase the iron intake of the entire population. However, because of concerns about the risk of cancer and heart disease in individuals with high iron stores, there is an increasing reluctance to supply iron to individuals who do not require it. A more effective strategy is to fortify food vehicles that are targeted to segments of the population at greatest risk of iron deficiency such as infants and school children. Because of the strong inhibitory properties of diets in regions of the world where iron deficiency is most prevalent, the use of NaFeEDTA has important advantages for food fortification.
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PMID:Iron deficiency: the global perspective. 788 26

Childhood anemia has major adverse consequences for health and development. It's prevalence in India continues to range from 70 to 90%. Although anemia is multifactorial in etiology, preventative efforts have predominantly focused on increasing iron intake, primarily through supplementation in pregnant and lactating women. Policy thrust for childhood anemia is only recent. However, program implementation is dismal; only 3.8-4.7% of preschoolers receive iron-folate supplements. There is an urgent need for effective governance and implementation. Policy makers must distinguish anemia from iron deficiency, and introduce additional area-specific interventions as an integrated package.Increased iron intake may yield maximum benefit but will only address up to half the burden. In 6-59 months old children, instead of 100 days' continuous dosing with iron-folate syrup in a year, a directly supervised intermittent supplementation (biweekly; ~100 days per year) merits consideration. Multiple micronutrient powders for home fortification of foods in 6-23 months old infants do not appear viable. Additional interventions include delayed cord clamping, earlier supplementation in low birth weight infants, appropriate infant and young child feeding guidelines, and intermittent supervised supplementation in children and adolescents through school health programs. Use of double (iron-folate)-fortified salt in mid-day meal programs deserves piloting.Important area-specific, non-iron interventions include targeted deworming, and prevention and treatment of hemoglobinopathies, malaria and other common infections. Routine addition of multi-micronutrients to iron-folate supplementation appears unjustified currently. There is a pressing need to conduct relevant research, especially to inform etiology, additional interventions and implementation issues.
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PMID:Preventing childhood anemia in India: iron supplementation and beyond. 2338 62

Birth defects (structural, functional and metabolic disorder present from birth, may be diagnosed later) rising up as an important cause of infant mortality even in developing countries where infant mortality has been reduced to much extent. Seventy percent of birth defects are preventable through the application of various cost effective community genetic services. Indian people are living in the midst of risk factors for birth defects, e.g., universality of marriage, high fertility, large number of unplanned pregnancies, poor coverage of antenatal care, poor maternal nutritional status, high consanguineous marriages rate, and high carrier rate for hemoglobinopathies. India being the second most populous country with a large number infant born annually with birth defects should focus its attention on strategies for control of birth defects. Many population based strategies such as iodization, double fortification of salt, flour fortification with multivitamins, folic acid supplementation, periconceptional care, carrier screening and prenatal screening are some of proven strategies for control of birth defects. Strategies such as iodization of salt in spite of being initiated for a long time in the past do have a very little impact on its consumption (only 50% were using iodized salt). Community genetic services for control of birth defects can be easily flourished and integrated with primary health care in India because of its well established infrastructure and personnel in the field of maternal and child health care. As there is wide variation for infant mortality rate (IMR) in different states in India, so there is a need of deferential approach to implement community genetic services in states those had already achieved national goal of IMR. On the other hand, states those have not achieved the national goal on IMR priority should be given to management of other causes of infant mortality.
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PMID:Birth defects in India: Hidden truth, need for urgent attention. 2401 10