Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 2.360
Filtrar
1.
Niger Postgrad Med J ; 27(3): 190-195, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32687118

RESUMO

Background: Haemoglobin (Hb) disorders are among the most common blood genetic disorders worldwide, and they constitute an important cause of morbidity and mortality, especially in Nigeria. Despite the clinical significance of early diagnosis, newborn screening for these conditions is not routinely done in Nigeria. Objective: This study was undertaken to document the pattern of Hb phenotypes of newborn babies at the National Hospital Abuja and highlight the relevance of neonatal screening for early diagnosis of abnormal Hb phenotypes in Nigeria. Subjects and Methods: A prospective study of eligible newborn babies delivered in the hospital at the study site was undertaken following parental informed consent. Venous blood was collected from the babies into an ethylenediaminetetraacetic acid sample bottles. The samples were analysed using high-performance liquid chromatography (HPLC) techniques, and the Hb phenotypes obtained were documented. Data were analysed using the Statistical Package for Social Sciences (SPSS) version 20 (IBM-SPSS, Armonk, NY, USA). Results: Three hundred and eleven newborns (male = 173, female = 138) aged 0-28 days were recruited. Two hundred and thirty-six (75.9%) babies had Hb AA (FA) phenotype, 63 (20.3%) Hb AS (FAS), 6 (1.9%) Hb SS (FS), 4 (1.3%) Hb AC (FAC) and 2 (0.6%) had abnormal HbA variants. The overall prevalence of abnormal Hb phenotype was 24.1%. The results showed a significant association of sex (P = 0.003) and ethnicity (P = 0.047) with Hb phenotype. Conclusion: There is a wide spectrum of abnormal Hb phenotypes in Nigeria, and these phenotypes can easily be detected at birth using HPLC. We, therefore, recommend routine neonatal screening for sickle cell disease by HPLC in Nigeria.


Assuntos
Anemia Falciforme/sangue , Cromatografia Líquida de Alta Pressão/métodos , Hemoglobinas Anormais/análise , Hemoglobinas/análise , Recém-Nascido/sangue , Traço Falciforme/sangue , Adolescente , Adulto , Grupo com Ancestrais do Continente Africano , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Criança , Pré-Escolar , Hemoglobina Falciforme , Hemoglobinas/classificação , Hemoglobinas Anormais/genética , Humanos , Lactente , Nigéria/epidemiologia , Fenótipo , Prevalência , Estudos Prospectivos , Adulto Jovem
3.
PLoS One ; 14(10): e0223996, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31661492

RESUMO

α0-Thalassemia is an inherited hematological disorder caused by the deletion of α-globin genes. The Southeast Asian deletion (--SEA) is the most common type of α0-thalassemia observed in Southeast Asian countries. Regarding WHO health policy, an effective α0-thalassemia screening strategy is needed to control new severe α-thalassemia cases. In this study, a monoclonal antibody panel was used to develop immunochromatographic (IC) strip tests for detecting the Hb Bart's and ζ-globin chain. Among 195 samples, all α0-thalassemia traits (78 α0-thalassemia (--SEA) and 4 α0-thalassemia (--THAI)) had low MCV or MCH values. The sensitivity, specificity, PPV and NPV of the IC strip tests for ζ-globin and Hb Bart's for screening α0-thalassemia (--SEA) within the low MCV or MCH samples were 100%, 65.2%, 90.7%, 100% and 96.2%, 47.8%, 86.6%, 78.6%, respectively. All 4 α0-thalassemia (--THAI) traits were negative for ζ-globin chains but positive for Hb Bart's using the IC strip tests. These results led to a α0-thalassemia screening being proposed in which blood samples are first evaluated by MCV, MCH and Hb typing. Samples with high MCV and MCH values are excluded for the presence of the α0-thalassemia gene. Samples with low MCV or MCH values are assayed using the developed IC strip tests, where only samples testing positive are further assayed for α0-thalassemia by PCR. Patients with Hb H, EA Bart's or EF Bart's diseases do not need to use this IC strip assay. Thus, in this study, a simple and cost effective α0-thalassemia point of care test was developed.


Assuntos
Cromatografia de Afinidade/métodos , Hemoglobinas Anormais/análise , Talassemia alfa/classificação , Talassemia alfa/diagnóstico , Globinas zeta/análise , Estudos de Casos e Controles , Diagnóstico Diferencial , Humanos , Talassemia alfa/sangue
4.
Hemoglobin ; 43(3): 182-187, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31298599

RESUMO

This is the first report of quadrupole time-of-flight (Q-TOF) mass spectrometric identification of the hemoglobin (Hb) subunits, α, ß, δ and γ peptides, derived from enzymatic-digestion of proteins in the early unknown peaks of the cation exchange chromatography of Hb. The objectives were to identify the unknown high performance liquid chromatography (HPLC) peaks in healthy subjects and in patients with ß-thalassemia (ß-thal). The results demonstrate the existence of pools of free globin chains in red blood cells (RBCs). The α-, ß-, δ- and γ-globin peptides were identified in the unknown HPLC peaks. The quantification and role of the free globin pool in patients with ß-thal requires further investigation. Identification of all types of Hb subunits in the retention time (RT) before 1 min. suggests that altered Hbs is the nature of these fast-eluting peaks. Relevancy of thalassemias to the protein-aggregation disorders will require review of the role of free globin in the pathology of the disease.


Assuntos
Cromatografia Líquida de Alta Pressão , Subunidades de Hemoglobina/análise , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz , Talassemia beta/sangue , Talassemia beta/diagnóstico , Adolescente , Adulto , Sequência de Aminoácidos , Criança , Pré-Escolar , Feminino , Subunidades de Hemoglobina/química , Hemoglobinas Anormais/análise , Hemoglobinas Anormais/química , Humanos , Masculino , Adulto Jovem , alfa-Globinas/análise , alfa-Globinas/química , Globinas beta/análise , Globinas beta/química , Globinas delta/análise , Globinas delta/química , gama-Globinas/análise , gama-Globinas/química
5.
Rinsho Ketsueki ; 60(3): 213-217, 2019.
Artigo em Japonês | MEDLINE | ID: mdl-31068518

RESUMO

More than 1,200 hemoglobin variants are identified worldwide, and approximately 200 variants are detected in one of 3,000 Japanese people. Most of these patients are asymptomatic; however, some patients had hemolytic anemia or cyanosis. Herein, we report a case of a 49-year-old woman with prolonged fatigability after experiencing symptoms of common cold and intermittent brown urine. Her clinical data showed mild hemolysis, a disparity between SpO2 (93%) and pO2 (85.2 mmHg), and abnormally low HbA1c levels (3.7%). These findings lead to the diagnosis of unstable hemoglobin variant, Hb Hirosaki. A simple series of tests using pulse oximetry, an arterial blood gas analysis, measurement of HbA1c levels, or identifying the HPLC chromatogram of HbA1c can be the factors associated with the diagnosis of hemoglobinopathy.


Assuntos
Hemoglobina A Glicada/análise , Hemoglobinopatias/diagnóstico , Hemoglobinas Anormais/análise , Oxigênio/sangue , Feminino , Humanos , Pessoa de Meia-Idade , Oximetria
6.
Ann Biol Clin (Paris) ; 77(2): 155-159, 2019 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-30998195

RESUMO

The presence of hemoglobin variants can adversely affect the accuracy of some HbA1c methods depending on the variant. We examine the analytical interference from a rare Hb variant (Hb N Baltimore) with six different HbA1c methods using various method principles: two immunoassays methods (Tina-quant® HbA1c Gen et DCA Vantage), three high-performance liquid chromatography methods (G8 HPLC, Variant II Turbo A1c 2.0 et Variant II Dual kit), and one capillary-electrophoresis method (Capillarys Hb A1c kit). Hb N Baltimore can adversely affect determination of HbA1c levels. An underestimation of HbA1c level is observed with the chromatographic methods included in this study and no HbA1c result can be obtained with the capillary-electrophoresis method. Inversely, limited impact is observed with the immunoassays methods. The presence of an hemoglobin variant should be suspected when inconsistencies are observed between a patient's home blood glucose monitoring and laboratory-measured HbA1c. In these situations additional testing should be carried out using a test based on a different analytical method.


Assuntos
Hemoglobina A Glicada/análise , Testes Hematológicos/métodos , Hemoglobinas Anormais/fisiologia , Análise Química do Sangue/métodos , Glicemia/análise , Automonitorização da Glicemia/métodos , Cromatografia Líquida de Alta Pressão/métodos , Eletroforese Capilar/métodos , Testes Hematológicos/instrumentação , Hemoglobinas Anormais/análise , Humanos , Imunoensaio/métodos
8.
J Clin Lab Anal ; 33(2): e22671, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30221391

RESUMO

BACKGROUND: HbA1c is the standard bio-marker for glycemic control in patients with diabetes. Here, we report a α-globin chain variant and evaluate its effect on HbA1c measurements. METHODS: A 21-year-old female was suspected of harboring a hemoglobin variant following HbA1c measurement during a routine examination using Variant II Turbo 2.0 (Bio-Rad). An oral glucose tolerance test was performed using an AU5800 clinical chemistry system (Beckman Coulter). HbA1c was reanalyzed using D10 (Bio-Rad), Capillarys 2 Flex Piercing (Sebia), and Premier Hb9210 (Trinity Biotech). Hemoglobin analysis was performed using high-performance liquid chromatography (HPLC) on the Bio-Rad Variant II (ß-thalassemia short program) and capillary electrophoresis (CE, Capillarys 2 Flex Piercing, Hb program). Sanger sequencing of α and ß genes was also conducted. RESULTS: HbA1c was initially measured at 24.2% using Variant II Turbo 2.0. For the oral glucose tolerance test, fasting glucose, 1-hour, and 2-hour levels were recorded as 4.25, 7.89, and 5.34 mmol/L, respectively. Subsequently, HbA1c values determined by D10, Capillarys 2 Flex Piercing (HbA1c program), and Premier Hb9210 were 4.5% (26 mmol/mol), no HbA1c value, and 4.8 (29 mmol/mol), respectively. Hemoglobin analyzed using CE and HPLC revealed an abnormal hemoglobin. Sanger sequencing identified a transversion mutation of the α2 gene [CD16(AAG>GAG), Lys>Glu, HBA2: c.49 A>G], corresponding to a Hb I variant. CONCLUSION: An unusually high HbA1c or discordance between blood sugar and HbA1c values should alert about the possibilities of hemoglobin variants.


Assuntos
Hemoglobina A Glicada/química , Hemoglobina A Glicada/genética , Hemoglobinas Anormais/química , Hemoglobinas Anormais/genética , alfa-Globinas/química , alfa-Globinas/genética , Adulto , Glicemia , Análise Mutacional de DNA , Feminino , Teste de Tolerância a Glucose , Hemoglobina A Glicada/análise , Hemoglobinas Anormais/análise , Humanos , Mutação/genética , Adulto Jovem , alfa-Globinas/análise
10.
Pediatr. catalan ; 78(3): 111-113, jul.-sept. 2018. graf
Artigo em Catalão | IBECS | ID: ibc-174675

RESUMO

Introducció: Avui en dia hi ha més de mil variants de l'hemoglobina conegudes i probablement encara en resten moltes per conèixer. De vegades poden donar lloc a hemoglobines inestables que provoquen hemòlisi, alteracions en l'afinitat per l'oxigen, o poden no alterar la funció de la molècula, però sí ser causa de lectures anòmales per pulsioximetria, una eina molt estesa avui en dia en la nostra pràctica diària. Cas clínic: Presentem el cas d'un pacient asimptomàtic sense antecedents, del qual, a partir d'una falsa baixa saturació d'oxigen detectada per pulsioximetria al servei d'urgències, arribem al diagnòstic d'hemoglobinopatia tant del pacient com d'un dels seus familiars més propers. Comentari:. Cal conèixer les limitacions d'una eina tan utilitzada en la pràctica diària habitual com és el pulsioxímetre, així com considerar les variants de l'hemoglobina dintre del diagnòstic diferencial de la hipoxèmia, sobretot en el pacient asimptomàtic


Introducción: Hoy en día existen más de mil variantes de la hemoglobina conocidas y probablemente hay muchas más que están aún por conocer. En ocasiones, éstas pueden dar lugar a hemoglobinas inestables que producen hemólisis, alteraciones en la afinidad por el oxígeno, o pueden no alterar la función de la molécula, pero sí ser causa de lecturas anómalas por pulsioximetría, una herramienta muy extendida hoy en día en nuestros servicios de urgencias. Caso clínico: Presentamos el caso de un paciente asintomático y sin antecedentes del cual, a partir de una falsa baja saturación de oxígeno detectada en el servicio de urgencias, llegamos al diagnós-tico de variante de la hemoglobina, tanto en el paciente como en uno de sus familiares más cercanos. Comentarios: A raíz de este caso, el objetivo es hacer hincapié en la importancia de conocer las limitaciones de una herramienta tan extendida como el pulsioxímetro, así como en el hecho de considerar las hemoglobinopatías dentro del diagnóstico diferencial de la hipoxemia


Introduction: Currently, there are more than 1,000 known hemog-lobin variants and probably more variants that have yet to be identified. Some variants can result in unstable hemoglobin causing hemolysis and alterations in the oxygen affinity, or can also result in abnormal readings by pulse oximetry without any alteration in their function. Case report: We present the case of an asymptomatic patient and with no relevant personal or family medical history who was diagnosed with a hemoglobin variant after an abnormal reading in a pulse oximeter. Comments: This case highlights the importance of acknowledging the limitations of pulse oximetry, as well as the need to consider hemoglobinopathies in the differential diagnosis of hypoxemia, particularly in the asymptomatic patient


Assuntos
Humanos , Masculino , Criança , Hemoglobinopatias/diagnóstico , Hipóxia/diagnóstico , Oximetria/métodos , Oxigênio/sangue , Hemoglobinopatias/fisiopatologia , Hemoglobinas/classificação , Hemoglobinas Anormais/análise , Diagnóstico Diferencial , Hematócrito/estatística & dados numéricos , Gasometria
11.
Clin Lab ; 64(7): 1305-1309, 2018 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-30146834

RESUMO

BACKGROUND: Hb I and Hb Shaare Zedek are rare hemoglobin variants in the Chinese population. High-performance liquid chromatography (HPLC) is a widely used technique for screening of thalassemias and hemoglobin variants in Chinese primary hospitals. However, some rare hemoglobin variants cannot be effectively separated by HPLC. Here, we report one case of Hb I and one case of Hb Shaare Zedek which could not be detected by HPLC but required capillary electrophoresis (CE) in our hospital. METHODS: Two blood samples with high Hb F level were analyzed by HPLC as part of routine screening, and then globin genes were analyzed using Gap-PCR, PCR-Reverse dot-blot (RDB), and DNA sequencing. Subsequently, samples were analyzed by CE and results compared to HPLC. RESULTS: In case 1, results were as follows: Hb F 16.9%, Hb A0 72.5% (failed to show the value of Hb A in HPLC) and Hb A2 2.2% for HPLC. No mutations were detected using Gap-PCR and PCR-RDB, but there was a mutation of codon (CD) 16 in the α2 globin gene (AAG>GAG, corresponds to Hb I) by DNA sequencing. CE showed Hb A2 1.9%, Hb A 74%, Hb I 24.1%. In case 2, results were as follows: Hb F 11.0%, Hb A0 76.6%, and Hb A2 4.7% for HPLC. It showed a CD 41 - 42 mutation of the ß-globin gene (-TTCT) using PCR-RDB and the CD 56 mutation in α2/α1 globin gene (AAG>GAG, corresponding to Hb Shaare Zedek) with DNA sequencing. CE displayed Hb A2 4.5%, Hb A 84.6%, Hb F 0.4%, Hb Shaare Zedek 10.5%. CONCLUSIONS: Hb I and Hb Shaare Zedek cannot be separated by HPLC because of co-elution with Hb F. However, they were identified and quantified using CE. As a general precaution, therefore, and owing to the existence of rare variants that may co-elute with normal hemoglobin fractions, it is recommended to use at least two complementary methods for the diagnostic detection of hemoglobin species.


Assuntos
Cromatografia Líquida de Alta Pressão/métodos , Eletroforese Capilar/métodos , Hemoglobinopatias/diagnóstico , Hemoglobinas Anormais/análise , Sequência de Bases , Hemoglobina Fetal/análise , Hemoglobina Fetal/genética , Hemoglobina A/análise , Hemoglobina A/genética , Hemoglobina A2/análise , Hemoglobina A2/genética , Hemoglobinopatias/sangue , Hemoglobinopatias/genética , Hemoglobinas Anormais/genética , Humanos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
12.
J Immunoassay Immunochem ; 39(3): 323-336, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29985765

RESUMO

Hemoglobin F (HbF) in blood lysate can be accurately measured by various methods, including immunoassay. In this study, we have produced polyclonal antibody (pAb) against HbF and established a modified sandwich-type ELISA for HbF quantification in blood lysates. The modified sandwich ELISA utilized anti-γ-globin monoclonal antibody clones Thal N/B as the capture antibody (Ab) coated on solid-phase, fluorescein isothiocyanate (FITC)-labeled pAb as the detecting Ab, and HPR-labeled anti-FITC Ab as the signal-generating Ab. By using an optimized blood lysate dilution, the HbF could be measured with no interference from hemoglobin Bart's (Hb Bart's) and hemoglobin Portland (Hb Portland 1) presented in α-thalassemia carriers. HbF levels measured by the modified sandwich ELISA were comparable to those quantified by the standard cation-exchange high performance liquid chromatography. We suggested that this modified sandwich ELISA was able to accurately measure HbF levels even in α-thalassemia carriers containing Hb Bart's and Hb Portland 1 and be an alternative method for HbF measurement.


Assuntos
Ensaio de Imunoadsorção Enzimática/métodos , Hemoglobina Fetal/análise , Hemoglobinas Anormais/análise , Talassemia alfa/sangue , Talassemia alfa/diagnóstico , Animais , Humanos , Coelhos
13.
J Clin Lab Anal ; 32(8): e22567, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29761562

RESUMO

BACKGROUND: Capillary isoelectric focusing is a type of capillary electrophoresis method newly used for thalassemia screening in China. Although the good performance has been proved by several studies, whether it can best suit the special needs of Chinese patients still requires further investigations. METHODS: Comparisons were made between capillary zone electrophoresis method applied on Sebia Minicap and capillary isoelectric focusing method applied on Helena V8 platform E-class on identifying Hb E, Hb CS, Hb H, and Hb Barts for patients from southern China. And mixing studies were used to evaluate the lowest detection limits of these 2 kinds of capillary electrophoresis system. RESULTS: Helena V8 could not make a distinction between peaks of Hb E and peaks of Hb A2 as Sebia Minicap did. All chosen patients with Hb H and/or Hb Barts could be screened out by both 2 systems, but when analyzed by Helena V8, it was hard to distinguish Hb H from Hb Barts sometimes, while Sebia Minicap could make a clear distinction between peaks of Hb H and Hb Barts. Only a part of patients (3 of 8, 37.5%) with Hb CS could be screened out by Helena V8, while all patients could be identified by Sebia Minicap. Sebia Minicap had a lower detection limit for trace peaks than Helena V8 (near to 0.2% vs near to 0.6%). CONCLUSIONS: Compared with capillary zone electrophoresis, capillary isoelectric focusing applied on Helena V8 maybe is not the first choice for hemoglobinopathy testing in southern China.


Assuntos
Eletroforese Capilar/métodos , Hemoglobinas Anormais/análise , Focalização Isoelétrica/métodos , Talassemia/diagnóstico , Adulto , Pré-Escolar , Feminino , Hemoglobinas Anormais/química , Humanos , Lactente , Limite de Detecção , Modelos Lineares , Masculino , Reprodutibilidade dos Testes
16.
Hemoglobin ; 42(1): 51-53, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29405838

RESUMO

We report two families, members of which are carriers of a hemoglobin (Hb) variant previously described as Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T; p.Pro115Leu]. In the first family of Dutch origin, the proband, a 32-year-old male and his 65-year-old father, were both carriers of Hb Nouakchott. Of the second family we tested, only the proband, a 56-year-old Dutch female was a Hb Nouakchott carrier. Hematological analyses of these cases showed the anomaly behaves as a silent Hb variant without clinical consequences. The Hb variant remained unnoticed using high performance liquid chromatography (HPLC), while an additional peak was detected by capillary electrophoresis (CE). These independent findings of Hb Nouakchott indicate that this Hb variant might not be very rare, but simply remains under diagnosed depending on the Hb separation technique used.


Assuntos
Triagem de Portadores Genéticos/métodos , Hemoglobinopatias/diagnóstico , Hemoglobinas Anormais/análise , Adulto , Idoso , Eletroforese Capilar , Família , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
17.
Lab Med ; 49(2): 147-153, 2018 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-29346667

RESUMO

Background: Microcytic erythrocytosis is an underrecognized and underevaluated complete blood count (CBC) finding. The literature pertaining to the determination of its etiology specifically by hemoglobin variant analysis is limited. Methods: We performed hemoglobin variant analysis by high performance liquid chromatography on 137 patients who revealed microcytic erythrocytosis on CBC, and reviewed the results for the diagnosis of hemoglobin-associated disorders. Results: A diagnosis of thalassemia trait and/or a hemoglobinopathy was established in 93 of 137 (67.9%) patients. Amongst these, ß-thalassemia trait topped the list with 69 cases (74.1%), followed by hereditary persistence of fetal hemoglobin with 5 cases (5.5%), Hemoglobin E disease with 4 cases (4.3%), and ∂/ß-thalassemia with 2 cases (2.1%). Compound heterozygous conditions with 1 or more hemoglobinopathies and/or thalassemias were diagnosed in 13 cases (14.0%). Abnormal hemoglobins in the compound heterozygosity group included C, S, HPFH, and 2 unknowns. Conclusion: Hemoglobin variant analysis provided a very high positive yield in determining the etiology of microcytic erythrocytosis.


Assuntos
Contagem de Células Sanguíneas , Hemoglobinopatias , Hemoglobinas Anormais/análise , Talassemia , Adulto , Idoso , Idoso de 80 Anos ou mais , Cromatografia Líquida de Alta Pressão , Índices de Eritrócitos , Feminino , Testes Hematológicos , Hemoglobinopatias/sangue , Hemoglobinopatias/diagnóstico , Hemoglobinas Anormais/química , Humanos , Masculino , Pessoa de Meia-Idade , Talassemia/sangue , Talassemia/diagnóstico
18.
Hemoglobin ; 42(5-6): 342-343, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30626226

RESUMO

Hb A2 (α2δ2) is one of the key components looked for in hemoglobinopathies screening programs. Therefore, quantitative and accurate method for Hb A2 value determination is essential for routine screening. Here, we report a case of Hb A2 and Hb Constant Spring (Hb CS, HBA2: c.427T>C) with Hb H-Hb CS disease that was not detected by high performance liquid chromatography (HPLC), while Hb A2 and Hb CS were clearly quantified by capillary electrophoresis (CE).


Assuntos
Hemoglobina A2/análise , Hemoglobinopatias/diagnóstico , Hemoglobinas Anormais/análise , Eletroforese Capilar/métodos , Humanos
19.
J Matern Fetal Neonatal Med ; 31(7): 946-957, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28277912

RESUMO

This review aimed at comprehensively summarizing current available reports regarding the ultrasound markers and biomarkers in predicting fetal Hb Bart's disease and evaluate the potential role of cardiac function assessment in a clinical practice. This review involves various methods in prenatal predicting fetal Hb Bart's disease or alpha-thalassemia major and attempts to provide valuable insights regarding the underlying mechanisms responsible for heart failure in Hb Bart's fetuses. Moreover, this information may be used to predict the cardiac function before the development of hydrops fetalis. Finally, the affected Hb Bart's fetus could be the best model of the study on cardiovascular response to fetal anemia, thus the cardiovascular ultrasound and molecular assessment may be helpful in predicting the prognosis or in making a choice in the management of the fetal anemia condition. In conclusion, ultrasound findings especially cardiomegaly and an increase in peak systolic velocity of the middle cerebral artery (MCA-PSV) are helpful in predicting the future hydrops fetalis and ultrasound assessment of fetal cardiac function is potentially helpful in clinical practice. Finally, this review highlights the pathogenesis of hydropic changes secondary to fetal anemia.


Assuntos
Coração Fetal/diagnóstico por imagem , Terapias Fetais/métodos , Hemoglobinas Anormais/análise , Hidropisia Fetal , Artéria Cerebral Média/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Aborto Eugênico , Anemia/sangue , Anemia/diagnóstico por imagem , Biomarcadores/sangue , Cardiotocografia , Feminino , Coração Fetal/patologia , Insuficiência Cardíaca/embriologia , Humanos , Hidropisia Fetal/sangue , Hidropisia Fetal/diagnóstico por imagem , Hidropisia Fetal/fisiopatologia , Hidropisia Fetal/terapia , Peptídeo Natriurético Encefálico/sangue , Fragmentos de Peptídeos/sangue , Valor Preditivo dos Testes , Gravidez , Troponina T/sangue
20.
Clin Chim Acta ; 476: 67-74, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29154790

RESUMO

BACKGROUND: Unrecognized hemoglobinopathies can lead to measured hemoglobin A1c (Hb A1c) concentrations that are erroneous or misleading. We determined the effects of rare hemoglobin variants on capillary electrophoresis (CE) and HPLC methods for measurement of Hb A1c. METHODS: We prospectively investigated samples in which Hb A1c was measured by CE during a 14-month period. For samples in which the electropherograms suggested the presence of rare hemoglobinopathies, hemoglobin variants were identified by molecular analysis or by comparison with electropherograms of known variants. When sample volume permitted, Hb A1c was measured by 2 HPLC measurement procedures and by boronate affinity HPLC. RESULTS: Hb A1c was measured by CE in 33,859 samples from 26,850 patients. 15 patients (0.06%) were identified as having rare hemoglobinopathies: Hbs A2 prime, Agenogi, Fannin-Lubbock I, G Philadelphia, G San Jose, J Baltimore, La Desirade, N Baltimore, Nouakchott, and Roanne. Among 6 of these samples tested by 2 ion-exchange HPLC methods, the rare Hb was detected by both HPLC methods in only one sample, and none were detected by boronate affinity HPLC. The mean of the Hb A1c results of 2 HPLC methods differed from the result of the CE method by 0.7-2.2% Hb A1c in samples with variant hemoglobins versus <0.2% Hb A1c in samples without variants. CONCLUSION: Measurement procedures differ in the ability to detect the presence of rare Hb variants and to quantify Hb A1c in patients who harbor such variants.


Assuntos
Hemoglobina A Glicada/genética , Hemoglobinas Anormais/genética , Cromatografia Líquida de Alta Pressão , Eletroforese Capilar , Variação Genética/genética , Hemoglobina A Glicada/análise , Hemoglobinas Anormais/análise , Humanos , Estudos Prospectivos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA