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)

Newborn screening fact sheets were last revised in 1996 by the Committee on Genetics of the American Academy of Pediatrics. These fact sheets have been revised again because of advances in the field, including technologic innovations such as tandem mass spectrometry, as well as greater appreciation of ethical issues such as informed consent. The fact sheets provide information to assist pediatricians and other professionals who care for children in performing their essential role within the newborn screening public health system. The newborn screening system consists of 5 parts: (1) newborn testing; (2) follow-up of abnormal screening results to facilitate timely diagnostic testing and management; (3) diagnostic testing; (4) disease management, which requires coordination with the medical home and genetic counseling; and (5) continuous evaluation and improvement of the newborn screening system. The following disorders are reviewed in the newborn screening fact sheets (which are available at www.pediatrics.org/cgi/content/full/118/3/e934): biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia,homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A dehydrogenase deficiency, phenylketonuria, sickle cell disease and other hemoglobinopathies,and tyrosinemia.
Pediatrics 2006 Sep
PMID:Introduction to the newborn screening fact sheets. 1696 Sep 84

Haemoglobinopathies are defects that interfere with the synthesis of haemoglobin. Parents who are both healthy carriers (heterozygotes) may produce severely affected homozygous or compound heterozygous children who can be treated only symptomatically. Offering Dutch couples at risk the possibility of primary prevention is a matter of good healthcare and its organisation deserves priority. The prevention of haemoglobinopathy is based on the provision of information to potential carriers, carrier diagnostics and counselling, services that can in principle be provided by existing public health care institutions. Three moments at which the prevention of recessive diseases can be offered are the phase of preconception, the phase of early pregnancy (prospective primary prevention) and the postnatal phase at the time of a following pregnancy (retrospective primary prevention). By providing basic information and requesting laboratory tests for the diagnosis ofhaemoglobinopathy, the general practitioner plays a crucial role in primary prevention.
Ned Tijdschr Geneeskd 2006 Sep 30
PMID:[Prevention of hereditary haemoglobinopathies in The Netherlands]. 1705 87

Hemoglobinopathy comprises a group of inherited hemoglobin disorders in which hemoglobin (Hb) was improperly formed, but the cause is not depletion of the globin gene. Typically, when the basic pathogenesis is a single substitution disorder, only one aberration presents in the secondary structure. However, the manifested or functional aberration resulting from the structural aberration usually varies. It is sometimes difficult to compare the degree of functional aberration among such hemoglobin disorders. A functional analysis was performed on 4 important beta hemoglobinopathies (hemoglobin C, D, E, and S) using PolyPhen, a novel bioinformatic tool. The mutations Hb C (beta 6, Glu --> Lys), Hb D (beta 121, Glu --> Gln), Hb E (beta 26, Glu --> Lys), and Hb S (beta 6, Glu --> Val) were selected for further study. According to the in silico mutation study, the functional change in the studied hemoglobinopathies was variable. The position-specific independent counts (PSIC) difference score ranged from 1.362 (Hb D) to 2.986 (Hb S). Regarding the degree of damage, all had probable damage. This analysis demonstrated that the functional aberration in the hemoglobinopathy was based on complex pathogenesis. Identifying only the structural aberration in a hemoglobinopathy is not sufficient; additional functional analysis is recommended. The functional analysis presented here may be a good model for further research.
Nanomedicine 2005 Sep
PMID:Analysis of functional aberration of some important beta hemoglobinopathies (hemoglobin C, D, E, and S) from nanostructures. 1729 82

Hemoglobin variants in which a frameshift results in chain elongation are not common. Hemoglobin Geneva (HbGeneva) is an unstable hemologin with abnormal elongation. This hemoglobinopathy is known for its high instability. Concerning the pathogenesis of HbGeneva, the data indicate a change in codon 114 from CTG (Leu) to -GG that results in a frame shift and the presumed synthesis of an abnormal beta-chain that is 156 residues long with a completely different C-terminal amino acid sequence. This abnormality causes a frame shift, which results in elongation of the beta-chain amino acids. A bioinformatic analysis was performed to study the secondary and tertiary structures of those abnormal amino acid sequences. A computer-based study for protein structure modeling was performed. According to this study, the secondary structure analysis of the Hb Geneva showed many defects in helix and strand of the Hb Geneva compared with normal beta-globin chains. On the basis of this information, the main alteration in the Hb Geneva might be due to these aberrations. With regard to the tertiary structure, the deterioration of folds, accompanied by the aberration in secondary structure of globin in Hb Geneva can be identified.
Nanomedicine 2005 Sep
PMID:Structural analysis on the abnormal elongated hemoglobin "hemoglobin Geneva". 1729 82

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.
Nanomedicine 2006 Sep
PMID:Interaction of hemoglobin and copper nanoparticles: implications in hemoglobinopathy. 1729 42

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.
Rev Biol Trop 2004 Sep
PMID:Evolution and innovations of the National Neonatal and High Risk Screening Program in Costa Rica. 1736 38

Recombinant human erythropoietin (rHuEPO) has transformed the management chronic renal failure (CKD) and considerably improved the outcome of patients on regular chronic dialysis. However, a significant number of patients fail to respond to high of Erythropoiesis-stimulating agents (ESAs) and several causes of inadequate response to epoetin therapy have been identified. Some factors, such as gender, age, length of time on dialysis, type of dialysis and co-morbidities such as hemoglobinopathy, are not susceptible to clinical intervention. However, many other factors can be adjusted. Iron deficiency, whether functional or absolute, is the most common factor that limits the response to rHuEPO. Monitoring of iron parameters and a large use of iron supplementation result in an efficient epoetin response. Infection and inflammation have been shown to reduce responsiveness to ESAs by disrupting iron metabolism and increasing the release of pro-inflammatory cytokines that inhibit erythropoiesis. Increase dialysis dose is associated with improvements in anemia correction and reduced requirements for ESAs. Severe hyperparathyroidism and aluminum overload lead to a reduced number of responsive erythroid progenitor cells. Finally, a number of nutritional factors, such as deficiencies of carnitine, vitamin B12, folic acid, and vitamin C, are susceptible to alter erythropoiesis. Optimizing patient response to ESAs therefore requires consideration of many of well-established factors and is important for both patient outcomes and cost of treatment.
Nephrol Ther 2006 Sep
PMID:[Factors affecting the response to erythropoiesis-stimulating agents]. 1737 70

Renal medullary carcinoma (RMC) is an aggressive neoplasm occurring almost exclusively in adolescents and young adults with sickle cell (SC) hemoglobinopathies, usually sickle cell trait (SCT) or hemoglobin SC disease. The most common presentations are hematuria and flank or abdominal pain. It is a highly malignant tumor, and responses to chemotherapy are rare and transient resulting in a dismal prognosis. A high level of suspicion is necessary when evaluating at risk patients presenting with hematuria or flank pain, as currently it appears that only early diagnosis could potentially alter the outcome of this disease. We report a case of RMC in a young male patient with SCT, who presented to the emergency department with low back pain and microscopic hematuria, clinically mimicking acute obstructing urolithiasis. Our case emphasizes the need to consider alternate diagnoses when evaluating computed tomography scans for acute flank pain.
Emerg Radiol 2007 Sep
PMID:Renal medullary carcinoma: unsuspected diagnosis at stone protocol CT. 1740 14

The aim of the study was to investigate whether the well-known high anemia prevalence in pregnant women from the eastern Mediterranean and Asian regions decreased when the women immigrated to a low-frequency region (Denmark). During 70 months, 1,741 pregnant immigrant women referred from primary care to an obligatory hemoglobinopathy screening were eligible for the study, as their screening was negative. To compare this group with a cohort of 205 pregnant ethnic Danish women, the groups were matched by gestational age, and a total of 406 immigrant women were included. Hemoglobin (Hb) and iron status parameters were examined in the two groups. The prevalence of anemia was higher in the immigrant group (20.0%) compared to the Danish women (4.9%) (P < 0.0001). Blood Hb concentration was 119 +/- 12 g/l (mean +/- SD) in the immigrant group compared to 122 +/- 9 g/l in the Danish group (P = 0.01). Erythrocyte mean corpuscular volume (MCV) was also lower in the immigrant group (87 +/- 7 fl vs 96 +/- 4 fl) (P < 0.0001). A total of 13.1% of the immigrant women had an MCV <80 fl (the lower reference limit) compared to 0.0% in the Danish group, and plasma iron, ferritin, and transferrin saturation values indicated iron deficiency. Conclusively, the pregnant immigrant women had significantly higher prevalence of anemia compared to pregnant women of Danish origin. It indicates the need for an alternative routine screening procedure for this population group, which should also include nutritional counselling.
Ann Hematol 2007 Sep
PMID:Higher prevalence of anemia among pregnant immigrant women compared to pregnant ethnic Danish women. 1803 72

The present report describes the hematologic and molecular study of the second case of Hb D(Iran) associated with beta(0)-thalassemia (619 bp-deletion) found in India and the first case in which the mutations have been identified at molecular level. The patient showed hypochromic, microcytic red cell picture with reduced red cell indices. The characterization of the hemoglobinopathy was made by electrophoretic and chromatographic techniques and confirmed by sequencing of the beta-globin gene. Both the propositus and her father were found to be carriers of the gene for beta(0)-thalassemia owing to the 619 bp-deletion mutation as seen by the polymerase chain reaction (PCR). Single base substitution GAA > CAA (indicative of Hb D(Iran)) in the heterozygous form was seen in the propositus as well as the mother by sequencing.
Eur J Haematol 2007 Sep
PMID:Compound heterozygosity of Hb D(Iran) (beta(22) Glu-->Gln) and beta(0)-thalassemia (619 bp-deletion) in India. 1765 8


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