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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Angioid streaks were observed in two patients with abetalipoproteinemia. The progression of the angioid streaks was minimal over the years that these patients received vitamin A and E supplementation, though in one patient the development of subretinal neovascular membranes within the angioid streaks was the cause of rapid central visual loss. The simultaneous appearance of two rare entities in unrelated individuals strengthens the relationship between these two disorders that has been suggested by previous case studies. The authors propose a common metabolic pathway involving trace element deficiencies that may account for this relationship as well as the association of angioid streaks with other rare disorders such as Paget's disease, hypoparathyroidism, lead poisoning, hyperphosphatemia, and a number of hemoglobinopathies. Their study of these two patients underscores the need for further investigations as to the role of copper, zinc and omega-3 fatty acids in the pathogenesis of retinopathy in abetalipoproteinemia.
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PMID:Angioid streaks associated with abetalipoproteinemia. 774 70

Caution is called for in providing family planning counseling and contraceptive prescriptions for women with hematological disorders. Iron deficiency anemia is a common problem among women of reproductive age. During menstruation women's need for iron intake is 3 times that of men. Oral contraceptives (OCs) are an appropriate contraceptive choice for iron deficiency anemia patients since OCs are associated with reduced blood loss during menstruation. Most IUDs, and especially unmedicated and copper bearing devices, should not be used by women with iron deficiency anemia. Progestin releasing IUDs tend to increase hemoglobin and serum ferritin levels, therefore, patients with iron deficiency anemia may benefit from progestin releasing IUD insertions. Women with hemorrhagic disorders, such as hemophilia, purpuras, and platelet number and function disorders frequently experience menorrhagia. OCs are an appropriate contraceptive for many patients with these disorders. Several studies indicate that patients with hemorrhagic disorders frequently experience reduced bleeding problems when they use OCs. IUDs are contraindicated for women with hemorrhagic diseases because IUDs may increase blood loss. Women with sickle cell hemoglobinopathies need careful counseling. Pregnancy for these women entails high morbidity and mortality risks. Series data shows that pregnant women with sickle cell hemoglobinopathies have a 4%-100% risk of maternal morbidity and a 1%-35% risk of maternal mortality. The risk of maternal morbidity and mortality is equally high for women with hemoglogin sickle cell disease but somewhat lower for women with sickle cell thalassemia. Women with these diseases should be informed about the risks associated with pregnancy. These patients may want to consider sterilization. Oral and IUD contraceptives are contraindicated for patients with these disorders; the former, because it may have a thromboembolic effect, and the latter, because it is associated with high blood loss. There are some reports that progesterone protects against sickling, but more intensive studies must be undertaken before progesterone can be recommended for women with sickle cess disorders. If patients insist on using an OC, a minipill may be prescribed. Barrier methods are probably the best choice for sickle cell disorder patients.
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PMID:Patients with hematologic disorders need careful birth control counseling. 1226 20

Calprotectin, also known as the S100A8/A9 or MRP8/14 complex, is a major calcium-binding protein in the cytosol of neutrophils, monocytes, and keratinocytes. It differs from other S100 proteins in its zinc-binding capacity. The authors describe a 4-year-old girl with severe anemia, neutropenia, inflammation, and severe growth failure. Bone marrow examination showed moderate dyserythropoiesis. No hemolysis, iron deficiency, hemoglobinopathies, immunologic diseases, or autoantibodies were detected. Serum levels of copper and ceruloplasmin were within the normal range, although the serum zinc concentration was markedly increased (310 microg/dL). Urinary zinc excretion and erythrocyte zinc concentrations were within the normal range. Family studies showed normal zinc and copper plasma levels. The patient's plasma calprotectin concentration showed a 6,000-fold increase (2,900 mg/L) compared with normal values. The calprotectin concentration is known to be elevated in many inflammatory conditions but is generally below 10 mg/L and thus far below the levels reported in this patient. The authors describe this case as an inborn error of zinc metabolism caused by dysregulation of calprotectin metabolism, which mainly presented with the features of microcytic anemia and inflammation.
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PMID:Severe anemia and neutropenia associated with hyperzincemia and hypercalprotectinemia. 1618 40

Here we study the interaction of copper nanoparticles (CuNPs) with different variants of hemoglobin (Hb). The study reports analysis with HbA0 (the major component of human Hb) and HbA2 (a variant that is associated with beta-thalassemia). In the case of HbA0, the major fraction of human Hb, the CuNPs trigger protein aggregation, and this is followed by the precipitation of the protein. The aggregative response is largely attenuated in the case of HbA2. The difference between the two variants is thus amenable to detection by simple optical methods. We verified that CuNPs co-precipitated with specific Hb variants using atomic absorption spectroscopy (AAS) and high-pressure liquid chromatography (HPLC). An associated observation was the reversal of zeta potential of HbA0 induced by the CuNPs (from -11 mV to +13 mV). Dynamic light-scattering (DLS) studies indicated that in the case of HbA0, protein initially broke the nanoclusters into smaller sizes (4 nm), and this was followed by a gradual increase in cluster size. Assays of heme peroxidase activity indicated that the protein unfolded during the process. It is suggested that interaction between the CuNPs and HbA0 stimulates the molten-globule state of the protein, leading to the onset of such an aggregative pathway. When studied for other variants, HbE, a common mutant of Hb, showed similar aggregative behavior, and on the other hand, rare variants such as HbC tended to remain in solution. A suitable scaling up of the approach may have important implications in screening hemoglobinopathies such as beta-thalassemia.
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PMID:Interaction of hemoglobin and copper nanoparticles: implications in hemoglobinopathy. 1729 42

One of the hallmarks of both sickle cell disease (SCD) and thalassemia major (TM) is accelerated oxidative damage. Decreased antioxidant levels and increased oxidant stress biomarkers are found in both diseases. Although isolated vitamin deficiencies have been reported in TM and nontransfused SCD patients, a comprehensive evaluation of vitamin and trace mineral levels has never been performed in chronically transfused SCD or TM patients. As vitamins and trace minerals may be consumed as a result of chronic oxidative stress; we hypothesized that levels of these compounds would correlate with surrogates of iron overload, hemolysis, and inflammation in chronically transfused patients. Using a convenience sample of our group of chronically transfused patients we studied 43 patients with SCD (17 male, 26 female) and 24 patients with TM (13 male and 11 female). The age range for our patients varied from 1.5 to 31.4 years. Levels of vitamins A, thiamin, B6, B12, C, D, E as well as selenium, zinc, copper, and ceruloplasmin were measured. We found that 40-75% of the patients were deficient in A, C, D and selenium and 28-38% of the patients had low levels of B vitamins and folate. There was little association with iron overload, hemolysis, or inflammation. Although the precise mechanism of these deficiencies is unclear, they may contribute to the morbidity of chronically transfused hemoglobinopathy patients.
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PMID:Nutritional deficiencies in iron overloaded patients with hemoglobinopathies. 1941 22

Pre-donation screening declarations and hemoglobin (Hb) testing are measures used to determine the quality of donated blood. The copper sulphate (CuSo4) method used to screen for blood abnormalities can give inaccurate results if strict quality control is not applied. Blood donors who are carriers of thalassemia and those with mild iron deficiency anemia (IDA) are usually asymptomatic and frequently missed at blood donation. The aim of this study was to evaluate the red blood cell (RBC) indices related disorders among blood donors who were deemed qualified to donate blood after screening with CuSo4 method. One hundred fifty-eight volunteer blood donors at the Universiti Putra Malaysia (UPM), who had passed the CuSo4 screening method, were recruited for this study. Their bloods specimens were examined with a complete blood count. Subjects with a low mean corpuscular hemoglobin (MCH) level were examined further by checking a serum ferritin level, Hb quantification, and molecular analysis to examine for common RBC disorders. Fourteen point six percent of subjects had a low Hb level, two (1.3%) had IDA and four (2.5%) had thalassemia or some other hemoglobinopathy. Using a MCH level < 27 pg as a cut-off point, 58 subjects (36.7%) had suspected IDA, thalassemia or some other hemoglobinopathy. Eight point nine percent of subjects with a normal Hb level had thalassemia, and 3.8% had IDA. Malaysia has a high prevalence of thalassemia and other hemoglobinopathies. Pre-donation accurate screening is crucial to protect the quality of blood transfusion products. Public education regarding RBC disorders especially among blood donors is important.
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PMID:EVALUATION OF RED BLOOD CELL INDICES RELATED DISORDERS AMONG ELIGIBLE BLOOD DONORS AT THE UNIVERSITI PUTRA MALAYSIA (UPM). 2686 62