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[PMID]:27664335
[Au] Autor:Adekanmbi J; Higgins T; Rodriguez-Capote K; Thomas D; Winterstein J; Dixon T; Gifford JL; Krause R; Venner AA; Clarke G; Estey MP
[Ad] Endereço:Department of Laboratory Medicine and Pathology, University of Alberta, Canada.
[Ti] Título:Erroneous HbA1c results in a patient with elevated HbC and HbF.
[So] Source:Clin Chim Acta;462:153-157, 2016 Nov 01.
[Is] ISSN:1873-3492
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: HbA1c is used in the diagnosis and monitoring of diabetes mellitus (DM). Interference from hemoglobin variants is a well-described phenomenon, particularly with HPLC-based methods. While immunoassays may generate more reliable HbA1c results in the presence of some variants, these methods are susceptible to negative interference from high concentrations of HbF. We report a case where an accurate HbA1c result could not be obtained by any available method due to the presence of a compound hemoglobinopathy. METHODS: HbA1c was measured by HPLC, immunoassay, and capillary electrophoresis. Hemoglobinopathy investigation consisted of a CBC, hemoglobin fractionation by HPLC and electrophoresis, and molecular analysis. RESULTS: HbA1c analysis by HPLC and capillary electrophoresis gave no result. Analysis by immunoassay yielded HbA1c results of 5.9% (Siemens DCA 2000+) and 5.1% (Roche Integra), which were inconsistent with other markers of glycemic control. Hemoglobinopathy investigation showed HbC with the hereditary persistence of fetal hemoglobin-2 Ghana deletion. CONCLUSION: Reliable HbA1c results may be unobtainable in the presence of some hemoglobinopathies. HPLC and capillary electrophoresis alerted the laboratory to the presence of an unusual hemoglobinopathy. Immunoassays generated falsely low results without warning, which could lead to missed diagnoses and under treatment of patients with DM.
[Mh] Termos MeSH primário: Hemoglobina Fetal/análise
Hemoglobina A Glicada/análise
Hemoglobina C/análise
Hemoglobinopatias/sangue
[Mh] Termos MeSH secundário: Adulto
Cromatografia Líquida de Alta Pressão
Cromatografia por Troca Iônica
Eletroforese Capilar
Hemoglobina Fetal/genética
Hemoglobina C/genética
Hemoglobinopatias/genética
Seres Humanos
Imunoensaio
Masculino
Reação em Cadeia da Polimerase
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glycated Hemoglobin A); 0 (hemoglobin A1c protein, human); 9008-00-8 (Hemoglobin C); 9034-63-3 (Fetal Hemoglobin)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160925
[St] Status:MEDLINE


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[PMID]:27372866
[Au] Autor:Wong P
[Ad] Endereço:Laboratoire de Chimie des Protéines, Montréal, Québec, Canada. Electronic address: pwong_LCP@yahoo.ca.
[Ti] Título:A hypothesis of target cell formation in sickle cell disease.
[So] Source:Med Hypotheses;93:102-5, 2016 Aug.
[Is] ISSN:1532-2777
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A fraction of erythrocytes appear as target cells in stained blood smears in sickle cell disease, due to a inheritance of the hemoglobin variant Hb S, polymerizing upon deoxygenation. These cells appear in a three dimension as thin cups. A process of their formation in this disease is proposed based on a band 3-based mechanism of the erythrocyte shape control, able to explain the erythrocyte echinocytosis by glucose depletion. It indicates that their formation is due to a stomatocytogenic slow outward transport of the dibasic form of endogenous Pi with an H(+) by band 3, promoted by the decrease of the Donnan ratio, which decreases cell pH and volume, attributed by a decrease of cell KCl concentration by the higher efflux of K(+)Cl(-) cotransport and Ca(2+) activation of the Gardos channel. Its implications are briefly discussed with respect to target cells per se, target cell formation in other hemoglobinopathies, acquired and inherited disorders of the lipid metabolism and dehydrated hereditary stomatocytosis as well as a stomatocyte presence in a double heterozygote of Hb S and Hb C and of an involvement of the process of target cell formation in acanthocytosis in acquired and inherited disorders.
[Mh] Termos MeSH primário: Anemia Falciforme/sangue
Eritrócitos/ultraestrutura
Hemoglobina C/genética
Hemoglobina Falciforme/genética
[Mh] Termos MeSH secundário: Trifosfato de Adenosina/química
Anemia Falciforme/genética
Transporte Biológico
Eritrócitos/citologia
Glucose/química
Hemoglobinopatias
Heterozigoto
Seres Humanos
Concentração de Íons de Hidrogênio
Hidrólise
Modelos Teóricos
Cloreto de Potássio/química
Simportadores/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobin, Sickle); 0 (Symporters); 0 (potassium-chloride symporters); 660YQ98I10 (Potassium Chloride); 8L70Q75FXE (Adenosine Triphosphate); 9008-00-8 (Hemoglobin C); IY9XDZ35W2 (Glucose)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170615
[Lr] Data última revisão:
170615
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160704
[St] Status:MEDLINE


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[PMID]:27355589
[Au] Autor:Renoux C; Romana M; Joly P; Ferdinand S; Faes C; Lemonne N; Skinner S; Garnier N; Etienne-Julan M; Bertrand Y; Petras M; Cannas G; Divialle-Doumdo L; Nader E; Cuzzubbo D; Lamarre Y; Gauthier A; Waltz X; Kebaili K; Martin C; Hot A; Hardy-Dessources MD; Pialoux V; Connes P
[Ad] Endereço:Unité de Pathologie Moléculaire du Globule Rouge, Laboratoire de Biochimie et de Biologie Moléculaire, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France.
[Ti] Título:Effect of Age on Blood Rheology in Sickle Cell Anaemia and Sickle Cell Haemoglobin C Disease: A Cross-Sectional Study.
[So] Source:PLoS One;11(6):e0158182, 2016.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Blood rheology plays a key role in the pathophysiology of sickle cell anaemia (SS) and sickle cell haemoglobin C disease (SC), but its evolution over the lifespan is unknown. MATERIALS AND METHODS: Blood viscosity, red blood cell (RBC) deformability and aggregation, foetal haemoglobin (HbF) and haematocrit were measured in 114 healthy individuals (AA), 267 SS (161 children + 106 adults) and 138 SC (74 children + 64 adults) patients. RESULTS: Our results showed that 1) RBC deformability is at its maximal value during the early years of life in SS and SC populations, mainly because HbF level is also at its peak, 2) during childhood and adulthood, hydroxycarbamide treatment, HbF level and gender modulated RBC deformability in SS patients, independently of age, 3) blood viscosity is higher in older SS and SC patients compared to younger ones and 4) haematocrit decreases as SS patients age. CONCLUSION: The hemorheological changes detected in older patients could play a role in the progressive development of several chronic disorders in sickle cell disease, whose prevalence increases with age. Retarding these age-related haemorheological impairments, by using suitable drugs, may minimize the risks of vaso-occlusive events and chronic disorders.
[Mh] Termos MeSH primário: Fatores Etários
Anemia Falciforme/sangue
Hemoglobina C/biossíntese
Hemorreologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Viscosidade Sanguínea
Criança
Pré-Escolar
Estudos Transversais
Agregação Eritrocítica/efeitos dos fármacos
Deformação Eritrocítica
Feminino
Voluntários Saudáveis
Hematócrito
Seres Humanos
Hidroxiureia/uso terapêutico
Lactente
Recém-Nascido
Masculino
Análise Multivariada
Viscosidade
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9008-00-8 (Hemoglobin C); X6Q56QN5QC (Hydroxyurea)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170726
[Lr] Data última revisão:
170726
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160630
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0158182


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[PMID]:27117572
[Au] Autor:Boucher MO; Chui DH; Woda BA; Newburger PE
[Ad] Endereço:a Department of Pediatrics , Division of Pediatric Hematology & Oncology, University of North Carolina , Chapel Hill , North Carolina , USA.
[Ti] Título:Mild Microcytic Anemia in an Infant with a Compound Heterozygosity for Hb C (HBB: c.19G > A) and Hb Osu Christiansborg (HBB: c.157G > A).
[So] Source:Hemoglobin;40(3):208-9, 2016 Jun.
[Is] ISSN:1532-432X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:We report an infant with a compound heterozygosity for Hb C (HBB: c.19G > A) and Hb Osu Christiansborg (HBB: c.157G > A) and a phenotype of mild microcytic anemia with target cell morphology but without overt hemolysis.
[Mh] Termos MeSH primário: Anemia Hipocrômica/genética
Hemoglobina C/genética
Hemoglobinas Anormais/genética
Heterozigoto
[Mh] Termos MeSH secundário: Seres Humanos
Lactente
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobins, Abnormal); 0 (hemoglobin Osu-Christiansborg); 9008-00-8 (Hemoglobin C)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170203
[Lr] Data última revisão:
170203
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160428
[St] Status:MEDLINE
[do] DOI:10.3109/03630269.2016.1165245


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[PMID]:26915371
[Au] Autor:Velasco-Rodríguez D; Alonso-Domínguez JM; González-Fernández FA; Muriel A; Abalo L; Sopeña M; Villarrubia J; Ropero P; Plaza MP; Tenorio M; Jiménez-Martín A; Moreno G; Martínez-Nieto J; de la Fuente-Gonzalo F; Fernández-Escribano M; López-Jiménez FJ; Cava F
[Ad] Endereço:Hospital Ramón y Cajal, Madrid, Spain Laboratorio Central de la Comunidad de Madrid, Madrid, Spain Programa de Doctorado de Investigación en Ciencias Médico-Quirúrgicas, Universidad Complutense de Madrid, Madrid, Spain.
[Ti] Título:Laboratory parameters provided by Advia 2120 analyser identify structural haemoglobinopathy carriers and discriminate between Hb S trait and Hb C trait.
[So] Source:J Clin Pathol;69(10):912-20, 2016 Oct.
[Is] ISSN:1472-4146
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Haemoglobinopathies have spread owing to human migration, and the number of people needing diagnosis and management of these conditions is increasing. Clinicians need to accurately identify carriers and provide adequate genetic counselling in order to prevent the occurrence of homozygous or compound heterozygous offspring. OBJECTIVES: To identify red blood cell (RBC) laboratory parameters that discriminate between structural haemoglobinopathy carriers and healthy subjects, and to compare RBC laboratory indices between HbAS and HbAC individuals. METHODS: Samples of 500 variant Hb carriers (355 HbAS, 104 HbAC, 19 HbAD, 7 HbAE, 7 HbAO-Arab, 4 α-chain variants and 4 Hb Lepore) and 251 normal controls were run on an Advia 2120 analyser (Siemens). Classic haematological parameters and RBC populations were assessed in all subjects. A multivariable binary logistic regression model was created to predict the probability of a subject carrying any structural haemoglobinopathy. HbAS (n=355, 71%) and HbAC (n=104, 20.8%) subjects were compared. RESULTS: A clinical prediction rule was developed by assigning one point to each of the most efficient variables: mean corpuscular volume (MCV) <88.4 fL, RBC distribution width >13.4%, percentage of microcytic RBCs (%MICRO) >0.7% and the ratio of microcytic RBCs to hypochromic RBCs >0.8. A score of 0, 1, 2, 3 or 4, resulted in a probability of 9.6%, 36.3%, 66.7%, 85.2% or 98.3%, respectively. Among the most frequent variant Hb, HbAC subjects had lower values of parameters related to cell size (MCV, %MICRO) and higher values of parameters related to haemoglobin concentration (MCHC, %HYPER) than HbAS subjects. Coexistence of α-thalassaemia in both HbAS and HbAC individuals resulted in decreased Hb, MCV, MCH and MCHC. CONCLUSIONS: Structural haemoglobinopathy should be investigated in subjects belonging to ethnic groups with high prevalence of variant Hb and with a score of 3 or 4. Erythrocytes of HbAC subjects are smaller and denser than those of HbAS subjects.
[Mh] Termos MeSH primário: Testes Hematológicos/instrumentação
Hemoglobina C/genética
Hemoglobina Falciforme/genética
Hemoglobinopatias/genética
Heterozigoto
[Mh] Termos MeSH secundário: Estudos de Casos e Controles
Índices de Eritrócitos
Eritrócitos/patologia
Predisposição Genética para Doença
Hemoglobinopatias/sangue
Seres Humanos
Fenótipo
Controle de Qualidade
Curva ROC
Reprodutibilidade dos Testes
Talassemia alfa/sangue
Talassemia alfa/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobin, Sickle); 9008-00-8 (Hemoglobin C)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170405
[Lr] Data última revisão:
170405
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160227
[St] Status:MEDLINE
[do] DOI:10.1136/jclinpath-2015-203556


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[PMID]:26753833
[Au] Autor:Gonçalves BP; Gupta S; Penman BS
[Ad] Endereço:Department of Immunology and Infection, London School of Hygiene and Tropical Medicine, London, W1CE 7HT, UK. bronner.goncalves@lshtm.ac.uk.
[Ti] Título:Sickle haemoglobin, haemoglobin C and malaria mortality feedbacks.
[So] Source:Malar J;15:26, 2016 Jan 12.
[Is] ISSN:1475-2875
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Sickle haemoglobin (HbS) and haemoglobin C (HbC) are both caused by point mutations in the beta globin gene, and both offer substantial malaria protection. Despite the fact that the blood disorder caused by homozygosity for HbC is much less severe than that caused by homozygosity for HbS (sickle cell anaemia), it is the sickle mutation which has come to dominate many old-world malarious regions, whilst HbC is highly restricted in its geographical distribution. It has been suggested that this discrepancy may be due to sickle cell heterozygotes enjoying a higher level of malaria protection than heterozygotes for HbC. A higher fitness of sickle cell heterozygotes relative to HbC heterozygotes could certainly have allowed the sickle cell allele to spread more rapidly. However, observations that carrying either HbC or HbS enhances an individual's capacity to transmit malaria parasites to mosquitoes could also shed light on this conundrum. METHODS: A population genetic model was used to investigate the evolutionary consequences of the strength of malaria selection being correlated with either HbS frequency or HbC frequency. RESULTS: If the selection pressure from malaria is positively correlated with the frequency of either HbS or HbC, it is easier for HbS to succeed in the competitive interaction between the two alleles. CONCLUSIONS: A feedback process whereby the presence of variant haemoglobins increases the level of malaria selection in a population could have contributed to the global success of HbS relative to HbC, despite the former's higher blood disorder cost.
[Mh] Termos MeSH primário: Hemoglobina C/metabolismo
Hemoglobinas/metabolismo
Malária/mortalidade
[Mh] Termos MeSH secundário: Alelos
Seres Humanos
Malária/metabolismo
Malária/transmissão
Modelos Teóricos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Hemoglobins); 9008-00-8 (Hemoglobin C)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160113
[St] Status:MEDLINE
[do] DOI:10.1186/s12936-015-1077-5


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[PMID]:26672090
[Au] Autor:Drawz P; Ayyappan S; Nouraie M; Saraf S; Gordeuk V; Hostetter T; Gladwin MT; Little J
[Ad] Endereço:Division of Renal Diseases and Hypertension, University of Minnesota, Minneapolis, Minnesota;
[Ti] Título:Kidney Disease among Patients with Sickle Cell Disease, Hemoglobin SS and SC.
[So] Source:Clin J Am Soc Nephrol;11(2):207-15, 2016 Feb 05.
[Is] ISSN:1555-905X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND OBJECTIVES: Sickle cell disease (SCD) is an inherited anemia that afflicts millions worldwide. Kidney disease is a major contributor to its morbidity and mortality. We examined contemporary and historical SCD populations to understand how renal disease behaved in hemoglobin SS (HbSS) compared with HbSC. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Kidney function was examined in the multicentered Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Therapy (Walk-PHaSST) Trial (HbSS=463; HbSC=127; years 2007-2009) and historical comparator populations from the Cooperative Study of Sickle Cell Disease (CSSCD; HbSS=708) and the Multicenter Study of Hydroxyurea in Sickle Cell Disease (MSH; HbSS=299). RESULTS: In adults with SCD, eGFR was lower among older individuals: -1.78 ml/min per 1.73 m(2) per year of age (95% confidence interval [95% CI], -2.06 to -1.50; Walk-PHaSST Trial), -1.75 ml/min per 1.73 m(2) per year of age (95% CI, -2.05 to -1.44; MSH), and -1.69 ml/min per 1.73 m(2) per year of age (95% CI, -2.00 to -1.38; CSSCD) in HbSS compared with -1.09 ml/min per 1.73 m(2) per year of age (95% CI, -1.39 to -0.75) in HbSC (Walk-PHaSST Trial). Macroalbuminuria was seen in 20% of participants with SCD (HbSS or HbSC; P=0.45; Walk-PHaSST Trial), but microalbuminuria was more prevalent in HbSS (44% versus 23% in HbSC; P<0.002). In the Walk-PHaSST Trial, albuminuria was associated with hemolysis (higher lactate dehydrogenase, P<0.001; higher absolute reticulocyte count, P<0.02; and lower Hb, P=0.07) and elevated systolic BP (P<0.001) in HbSS. One half of all participants with HbSS (20 of 39) versus one fifth without (41 of 228) elevated tricuspid regurgitant jet velocity (≥3 m/s; adverse prognostic indicator in SCD) had macroalbuminuria (P<0.001). In the CSSCD, overt proteinuria, detected (less sensitively) by urine dipstick, associated with higher 3-year mortality (odds ratio, 2.48; 95% CI, 1.07 to 5.77). Serum bicarbonate was lower in HbSS (23.8 versus 24.8 mEq/dl in HbSC; P<0.05) and associated with reticulocytopenic anemia and decreased renal function. CONCLUSIONS: In SCD, albuminuria or proteinuria was highly prevalent, in HbSS more than in HbSC. Proteinuria associated with mortality in HbSS. Older individuals had a lower than expected eGFR, and this was more prominent in HbSS. Current management does not routinely address renal complications in SCD, which could plausibly reduce morbidity and mortality.
[Mh] Termos MeSH primário: Anemia Falciforme/epidemiologia
Hemoglobina C/metabolismo
Doença da Hemoglobina SC/epidemiologia
Hemoglobina Falciforme/metabolismo
Nefropatias/epidemiologia
Rim/fisiopatologia
[Mh] Termos MeSH secundário: Equilíbrio Ácido-Base
Adulto
Albuminúria/epidemiologia
Anemia Falciforme/sangue
Anemia Falciforme/diagnóstico
Biomarcadores/sangue
Ensaios Clínicos como Assunto
Feminino
Taxa de Filtração Glomerular
Doença da Hemoglobina SC/sangue
Doença da Hemoglobina SC/diagnóstico
Doença da Hemoglobina SC/mortalidade
Estudo Historicamente Controlado
Seres Humanos
Nefropatias/diagnóstico
Nefropatias/mortalidade
Nefropatias/fisiopatologia
Masculino
Meia-Idade
Estudos Multicêntricos como Assunto
América do Norte/epidemiologia
Estudos Observacionais como Assunto
Fenótipo
Prevalência
Fatores de Risco
Reino Unido/epidemiologia
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Biomarkers); 0 (Hemoglobin, Sickle); 9008-00-8 (Hemoglobin C)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170917
[Lr] Data última revisão:
170917
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151217
[St] Status:MEDLINE
[do] DOI:10.2215/CJN.03940415


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[PMID]:26633548
[Au] Autor:Piel FB; Adamkiewicz TV; Amendah D; Williams TN; Gupta S; Grosse SD
[Ad] Endereço:Department of Zoology, University of Oxford, Oxford, UK.
[Ti] Título:Observed and expected frequencies of structural hemoglobin variants in newborn screening surveys in Africa and the Middle East: deviations from Hardy-Weinberg equilibrium.
[So] Source:Genet Med;18(3):265-74, 2016 Mar.
[Is] ISSN:1530-0366
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Our objective was to compare observed and expected genotype proportions from newborn screening surveys of structural hemoglobin variants. METHODS: We conducted a systematic review of newborn screening surveys of hemoglobins S and C in Africa and the Middle East. We compared observed frequencies to those expected assuming Hardy-Weinberg equilibrium (HWE). Significant deviations were identified by an exact test. The fixation index FIS was calculated to assess excess homozygosity. We compared newborn estimates corrected and uncorrected for HWE deviations using demographic data. RESULTS: Sixty samples reported genotype counts for hemoglobin variants in Africa and the Middle East. Observed and expected counts matched in 27%. The observed number of sickle cell anemia (SCA) individuals was higher than expected in 42 samples, reaching significance (P < 0.05) in 24. High FIS values were common across the study regions. The estimated total number of newborns with SCA, corrected based on FIS, was 33,261 annual births instead of 24,958 for the 38 samples across sub-Saharan Africa and 1,109 annual births instead of 578 for 12 samples from the Middle East. CONCLUSION: Differences between observed and expected genotype frequencies are common in surveys of hemoglobin variants in the study regions. Further research is required to identify and quantify factors responsible for such deviations. Estimates based on HWE might substantially underestimate the annual number of SCA-affected newborns (up to one-third in sub-Saharan Africa and one-half in the Middle East).
[Mh] Termos MeSH primário: Anemia Falciforme/genética
Frequência do Gene
Hemoglobina C/genética
Hemoglobina Falciforme/genética
Triagem Neonatal/métodos
[Mh] Termos MeSH secundário: África/epidemiologia
Anemia Falciforme/epidemiologia
Variação Genética
Genótipo
Inquéritos Epidemiológicos
Seres Humanos
Recém-Nascido
Oriente Médio/epidemiologia
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Hemoglobin, Sickle); 9008-00-8 (Hemoglobin C)
[Em] Mês de entrada:1611
[Cu] Atualização por classe:171110
[Lr] Data última revisão:
171110
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151204
[St] Status:MEDLINE
[do] DOI:10.1038/gim.2015.143


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[PMID]:26537622
[Au] Autor:McGann PT; Schaefer BA; Paniagua M; Howard TA; Ware RE
[Ad] Endereço:Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
[Ti] Título:Characteristics of a rapid, point-of-care lateral flow immunoassay for the diagnosis of sickle cell disease.
[So] Source:Am J Hematol;91(2):205-10, 2016 Feb.
[Is] ISSN:1096-8652
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Sickle cell disease (SCD) is a common and life-threatening hematological disorder, affecting approximately 400,000 newborns annually worldwide. Most SCD births occur in low-resource countries, particularly in sub-Saharan Africa, where limited access to accurate diagnostics results in early mortality. We evaluated a prototype immunoassay as a novel, rapid, and low-cost point-of-care (POC) diagnostic device (Sickle SCAN) designed to identify HbA, HbS, and HbC. A total of 139 blood samples were scored by three masked observers and compared to results using capillary zone electrophoresis. The sensitivity (98.3-100%) and specificity (92.5-100%) to detect the presence of HbA, HbS, and HbS were excellent. The test demonstrated 98.4% sensitivity and 98.6% specificity for the diagnosis of HbSS disease and 100% sensitivity and specificity for the diagnosis of HbSC disease. Most variant hemoglobins, including samples with high concentrations of HbF, did not interfere with the ability to detect HbS or HbC. Additionally, HbS and HbC were accurately detected at concentrations as low as 1-2%. Dried blood spot samples yielded clear positive bands, without loss of sensitivity or specificity, and devices stored at 37°C gave reliable results. These analyses indicate that the Sickle SCAN POC device is simple, rapid, and robust with high sensitivity and specificity for the detection of HbA, HbS, and HbC. The ability to obtain rapid and accurate results with both liquid blood and dried blood spots, including those with newborn high-HbF phenotypes, suggests that this POC device is suitable for large-scale screening and potentially for accurate diagnosis of SCD in limited resource settings.
[Mh] Termos MeSH primário: Anemia Falciforme/sangue
Hemoglobina A/análise
Hemoglobina C/análise
Hemoglobina Falciforme/análise
Sistemas Automatizados de Assistência Junto ao Leito
[Mh] Termos MeSH secundário: Eletroforese Capilar
Seres Humanos
Imunoensaio/economia
Imunoensaio/métodos
Projetos Piloto
Sistemas Automatizados de Assistência Junto ao Leito/economia
Reprodutibilidade dos Testes
Sensibilidade e Especificidade
Fatores de Tempo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobin, Sickle); 9008-00-8 (Hemoglobin C); 9034-51-9 (Hemoglobin A)
[Em] Mês de entrada:1606
[Cu] Atualização por classe:171118
[Lr] Data última revisão:
171118
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151106
[St] Status:MEDLINE
[do] DOI:10.1002/ajh.24232


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[PMID]:26372199
[Au] Autor:Akinbami AO; Campbell AD; Han ZJ; Luo HY; Chui DH; Steinberg MH
[Ad] Endereço:a Department of Medicine , Boston University School of Medicine , Boston , Massachusetts , USA.
[Ti] Título:Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease.
[So] Source:Hemoglobin;40(1):64-5, 2016.
[Is] ISSN:1532-432X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hereditary persistence of fetal hemoglobin (HPFH) can be caused by point mutations in the γ-globin gene promoters. We report three rare cases: a child compound heterozygous for Hb S (HBB: c.20A > T) and HPFH with a novel point mutation in the (A)γ-globin gene promoter who had 42.0% Hb S, 17.0% Hb A and 38.0% Hb F; a man with Hb SC (HBB: c.19G > A) disease and a point mutation in the (G)γ-globin gene promoter who had 54.0% Hb S, 18.0% Hb C and 25.0% Hb F; a child heterozygous for Hb S and HPFH due to mutations in both the (A)γ- and (G)γ-globin gene promoters in cis [(G)γ(A)γ(ß(+)) HPFH], with 67.0% Hb A, 6.5% Hb S and 25.0% Hb F.
[Mh] Termos MeSH primário: Hemoglobina Fetal/genética
Doença da Hemoglobina SC/genética
Hemoglobina Falciforme/genética
Mutação Puntual
Traço Falciforme/genética
gama-Globinas/genética
[Mh] Termos MeSH secundário: Adulto
Feminino
Hemoglobina C/genética
Heterozigoto
Seres Humanos
Lactente
Masculino
Regiões Promotoras Genéticas
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobin, Sickle); 0 (gamma-Globins); 9008-00-8 (Hemoglobin C); 9034-63-3 (Fetal Hemoglobin)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150916
[St] Status:MEDLINE
[do] DOI:10.3109/03630269.2015.1080725



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