RESUMEN
Introduction: Anemias correspond to hematological disorders that can present in the oral cavity and face. Objective: To review the literature on the main types of anemic disorders and their orofacial manifestations, considering the aspects of interest to dentists. Methodology: This is a literature review, in which articles were selected in Portuguese and English, indexed in the Scielo, Medline/Pubmed and Lilacs databases with the descriptors: Anemia, Oral Manifestations, Jaw Abnormalities and their correspondents in Portuguese language. Literature review: Anemic disorders associated with orofacial signs and symptoms include mainly Iron-Deficiency, Megaloblastic, Fanconis, Sickle Cell, Thalassemia and Aplastic Anemia. The manifestations vary from burning and painful symptoms in the tongue, pallor of lips and mucosa, stomatitis, atrophic glossitis, angular cheilitis, susceptibility to candidiasis and peri-odontal disease. Also, dental changes, hyposalivation, malocclusion, osteomyelitis of the jaw, paraesthesia of the mental nerve and orofacial pain are included. Conclusion: These manifestations can be the first signs of the presence of anemia, which gives the dentist an important role in early diagnosis and proper management of dental treatment.
Introdução: As anemias correspondem a distúrbios hematológicos que podem apresentar manifestações na cavidade oral e face. Objetivo: Revisar a literatura acerca dos principais tipos de distúrbios anêmicos e suas manifestações orofaciais, considerando os aspectos de interesse aos cirurgiões-dentistas. Metodologia: Trata-se de uma revisão de literatura, em que foram selecionados artigos em português e inglês, indexados nas bases de dados do Scielo, Medline/Pubmed e no Lilacs, com os descritores: Anemia, Oral Manifestations, Jaw Abnormalities e seus correspondentes na língua portuguesa. Revisão de literatura: Os distúrbios anêmicos associados aos sinais e sintomas orofaciais incluem principalmente a Anemia Ferropriva, Megaloblástica, de Fanconi, Falciforme, Talassemia e Anemia Aplástica. As manifestações variam de ardência e sintomatologia dolorosa em língua, palidez de lábios e mucosa, estomatite, glossite atrófica, queilite angular, suscetibilidade a candidíase e doença periodontal. Ainda, englobam-se as alterações dentárias, hipossalivação, má oclusão, osteomielite da mandíbula, parestesia do nervo mental e dor orofacial. Conclusão: Essas alterações podem ser os primeiros sinais da presença da anemia, o que confere ao cirurgião-dentista um importante papel no seu diagnóstico precoce e condução adequada ao tratamento odontológico.
Asunto(s)
Humanos , Manifestaciones Bucales , Talasemia/diagnóstico , Anemia Ferropénica/diagnóstico , Odontólogos , Anemia de Fanconi/diagnóstico , Anemia/diagnóstico , Anemia Aplásica/diagnóstico , Anemia de Células Falciformes/diagnóstico , Anomalías MaxilomandibularesRESUMEN
In 1963 Jean Bernard introduced the concept of "geographic hematology" and distinguished 2 branches, i.e., "ethnic hematology," which deals with differences between populations, and "environmental hematology," which considers factors such as food habits, infections, and others. Both of these branches have implications in the distribution of hematological diseases worldwide. In comparison with Caucasian populations, in Mexico a significantly higher prevalence of acute lymphoblastic, acute promyelocytic, and acute megakaryoblastic leukemias has been described. The rate of chronic myeloid leukemia seems to be as high as that reported in Caucasian populations, while other myeloproliferative neoplasias are significantly less frequent in Mexico. Significantly lower prevalences of hairy cell leukemia, chronic lymphocytic leukemia, multiple myeloma, and Waldenström's macroglobulinemia have been reported from Mexico. Regrettably, the influence of drug companies interested in selling their new and expensive drugs has resulted in both overdiagnosis of some diseases and overidentification of the refractory forms of some of these conditions to justify the use of unnecessary drugs.
Asunto(s)
Enfermedades Hematológicas/epidemiología , Enfermedades Hematológicas/diagnóstico , Leucemia Linfocítica Crónica de Células B/diagnóstico , Leucemia Linfocítica Crónica de Células B/epidemiología , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/epidemiología , México/epidemiología , Trastornos Mieloproliferativos , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/epidemiología , Prevalencia , Talasemia/diagnóstico , Talasemia/epidemiologíaRESUMEN
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.
Asunto(s)
Recuento de Células Sanguíneas , Hemoglobinopatías , Hemoglobinas Anormales/análisis , Talasemia , Adulto , Anciano , Anciano de 80 o más Años , Cromatografía Líquida de Alta Presión , Índices de Eritrocitos , Femenino , Pruebas Hematológicas , Hemoglobinopatías/sangre , Hemoglobinopatías/diagnóstico , Hemoglobinas Anormales/química , Humanos , Masculino , Persona de Mediana Edad , Talasemia/sangre , Talasemia/diagnósticoRESUMEN
BACKGROUND: The most common microcytic and hypochromic anemias are iron deficiency anemia and thalassemia trait. Several indices to discriminate iron deficiency anemia from thalassemia trait have been proposed as simple diagnostic tools. However, some of the best discriminative indices use parameters in the formulas that are only measured in modern counters and are not always available in small laboratories. The development of an index with good diagnostic accuracy based only on parameters derived from the blood cell count obtained using simple counters would be useful in the clinical routine. Thus, the aim of this study was to develop and validate a discriminative index to differentiate iron deficiency anemia from thalassemia trait. METHODS: To develop and to validate the new formula, blood count data from 106 (thalassemia trait: 23 and iron deficiency: 83) and 185 patients (thalassemia trait: 30 and iron deficiency: 155) were used, respectively. Iron deficiency, ß-thalassemia trait and a-thalassemia trait were confirmed by gold standard tests (low serum ferritin for iron deficiency anemia, HbA2 > 3.5% for ß-thalassemia trait and using molecular biology for the a-thalassemia trait). RESULTS: The sensitivity, specificity, efficiency, Youden's Index, area under receiver operating characteristic curve and Kappa coefficient of the new formula, called the Matos & Carvalho Index were 99.3%, 76.7%, 95.7%, 76.0, 0.95 and 0.83, respectively. CONCLUSION: The performance of this index was excellent with the advantage of being solely dependent on the mean corpuscular hemoglobin concentration and red blood cell count obtained from simple automatic counters and thus may be of great value in underdeveloped and developing countries.
Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Anciano , Rasgo Drepanocítico , Talasemia/diagnóstico , Anemia Ferropénica/diagnósticoAsunto(s)
Humanos , Rasgo Drepanocítico/diagnóstico , Rasgo Drepanocítico/epidemiología , Rasgo Drepanocítico/prevención & control , Talasemia/diagnóstico , Talasemia/epidemiología , Talasemia/prevención & control , Organizaciones sin Fines de Lucro/normas , Instituciones Asociadas de Salud/métodos , Investigación Biomédica/métodosAsunto(s)
Humanos , Instituciones Asociadas de Salud/métodos , Investigación Biomédica/métodos , Organizaciones sin Fines de Lucro/normas , Rasgo Drepanocítico/diagnóstico , Rasgo Drepanocítico/epidemiología , Rasgo Drepanocítico/prevención & control , Talasemia/diagnóstico , Talasemia/epidemiología , Talasemia/prevención & controlRESUMEN
As alterações na síntese da hemoglobina resultam em um grupo de distúrbios hereditários, os quais podem ser classificados como hemoglobina variante, se a alteração tiver origem em uma mutação no gene da hemoglobina, produzindo cadeias anormais, ou como talassemias, se a estrutura é normal, porém a síntese ocorre em quantidade alterada. Este trabalho tem como objetivo descrever a condução do diagnóstico laboratorial de quatro casos de distúrbios da hemoglobina, a fim de ilustrar o papel do laboratório e discutir o papel do patologista clínico como elemento de elo entre a clínica e o laboratório no processo de elucidação diagnóstica.
Defective synthesis of hemoglobin gives rise to a group of hereditary disorders. If the defect arises from a genetic mutation producing abnormal protein chains, the condition is classified as hemoglobin variant. Whereas, if the structure is normal but the synthesis is reduced, they are denominated as thalassaemia. This article aims to describe the laboratory diagnostic approach in four cases of hemoglobin disorders in order to illustrate the role of laboratories and discuss the role of clinical pathologists as a link between physicians and laboratories in diagnostic clarification.
Asunto(s)
Humanos , Masculino , Femenino , Técnicas de Laboratorio Clínico , Hemoglobinas Anormales , Hemoglobinopatías/diagnóstico , Prueba de Laboratorio , Patología Clínica , Talasemia/diagnósticoRESUMEN
Portadores de talassemia major (TM) permanecem assintomáticos e com funções ventriculares preservadas por longo tempo, porém, duas condições básicas podem ser responsáveis pelo comprometimento da função cardíaca nesse indivíduos, a anemia e a hemocromatose. Recentes avanços na ecocardiografia possibilitaram a utilização dessa técnica para a identificação precoce de disfunção ventricular secundária à hemocromatose. Além disso, esse exame constitui instrumento valioso para o acompanhamento evolutivo de pacientes, permitindo comparações de variáveis estruturais e funcionais cardíacas em diferentes momentos.
Asunto(s)
Humanos , Ecocardiografía Doppler/métodos , Ecocardiografía Doppler , Hemocromatosis/complicaciones , Hemocromatosis/diagnóstico , Talasemia/complicaciones , Talasemia/diagnóstico , Remodelación VentricularRESUMEN
As anemias constituem as doenças do sangue mais frequentes. O termo anemia significa redução da hemoglobina por unidade de volume de sangue, de acordo com a idade, sexo e tensão de oxigênio do ambiente. Pode referir-se ainda a uma síndrome clínica ou a um quadro laboratorial. As anemias podem ser provocadas por vários fatores e se classificam segundo os critérios morfológicos (normocítica/normocrômica microcítica/hipocrômica macrocítica/normocrômica) ou fisiopatológicos, considerando-se a etiologia, em anemias por falta de produção - hipoproliferação, por sobrevida diminuída dos eritrócitos - hemólise ou por perda sanguínea - hemorragia. As avaliações clínica e laboratorial são de fundamental importância para a elucidação diagnóstica e tratamento adequado.
Asunto(s)
Humanos , Masculino , Femenino , Anemia/clasificación , Anemia/diagnóstico , Anemia/etiología , Deficiencias de Hierro/diagnóstico , Talasemia/diagnóstico , Enfermedades Hematológicas/clasificaciónRESUMEN
O diagnóstico neonatal de hemoglobinopatias permite a melhoria na qualidade de vida do doente com a implementação de medidas profiláticas, acompanhamento clínico e aconselhamento genético. Objetivou-se no presente estudo o diagnóstico das hemoglobinas variantes e talassemias em amostras de sangue de cordão umbilical de neonatos da região noroeste do estado de São Paulo por Cromatografia Líquida de Alta Performance (HPLC), associada a procedimentos eletroforéticos, bioquímicos e citológicos, visando adaptar a melhor metodologia de análise à freqüência dos defeitos de hemoglobina na população brasileira. Foram analisadas 3.048 amostras de janeiro de 2001 a dezembro de 2002, e 13,12 por cento apresentaram alterações de hemoglobinas, sendo 1,84 por cento com presença de Hb S; 0,6 por cento com Hb C; 0,65 por cento com resultados sugestivos de beta talassemia e 9,48 por cento sugestivos de alfa talassemia. Dentre as hemoglobinas anormais encontradas, 0,33 por cento das amostras apresentaram resultados discordantes nas metodologias aplicadas. A HPLC mostrou-se eficiente para a identificação de variantes de hemoglobinas e permitiu a análise de grande número de amostras em curto espaço de tempo e agilidade nas triagens. Entretanto, foi necessário associar outros métodos de análise para a caracterização das formas talassêmicas.
The neonatal diagnosis hemoglobinopathies improves the quality of life by prophylactic measures and genetic counseling. The diagnosis of variant hemoglobins and thalassemias was considered in the present study. Cord blood samples of newborn babies from the northwestern region of São Paulo state were analyzed by High Performance Liquid Chromatography (HPLC) associated with electrophoretic, biochemical and cytologic procedures aiming to adapt the best methodology to analyze the frequency of hemoglobin defects in the Brazilian population. Three thousand and forty-eight samples were analyzed from January 2001 to December 2002 with 13.12 percent presenting hemoglobin alterations; 1.84 percent had Hb S; 0.6 percent had Hb C; 0.65 percent were suggestive of thalassemia beta and 9.48 percent were suggestive of thalassemia alpha. Among the abnormal hemoglobins, 0.33 percent of the samples presented different results in the methodologies used. HPLC was efficient to identify variant hemoglobins and enable the analysis of several samples in a short period of time with agility in screenin. However, an association of other methods was necessary for the characterization of the thalassemic forms.
Asunto(s)
Humanos , Masculino , Femenino , Lactante , Técnicas de Laboratorio Clínico , Hemoglobinopatías/diagnóstico , Hemoglobinopatías/prevención & control , Tamizaje Masivo , Tamizaje Neonatal , Talasemia/diagnóstico , Talasemia/prevención & control , Pruebas Hematológicas/métodosRESUMEN
Diseases which are associated with relapses and disability accumulation that mimic MS may be effectively treated if they are appropriately diagnosed. Unfortunately, however, it can be easy to assume that a patient is presenting with unusual symptoms of MS rather than establish unequivocally that there is no other cause. This article illustrates five short cases from a selection presented at the MS Forum Interactive Symposium at the LACTRIMS Congress, Brazil, 2004. These cases feature the differential diagnosis of MS and illustrate the importance of early and accurate diagnosis. Each case has clinical features suggestive of MS, together with diagnostic findings that are discordant with this disease. Clinical features that can easily be interpreted as unusual MS presentations, but which indicate the need to undertake additional investigation, are included.
Asunto(s)
Esclerosis Múltiple/diagnóstico , Adulto , Anemia de Células Falciformes/diagnóstico , Coartación Aórtica/diagnóstico , Encéfalo/patología , CADASIL/diagnóstico , Cóclea/irrigación sanguínea , Diagnóstico Diferencial , Epilepsia Tónico-Clónica/diagnóstico , Epilepsia Tónico-Clónica/fisiopatología , Femenino , Humanos , Leucopenia/diagnóstico , Imagen por Resonancia Magnética , Persona de Mediana Edad , Equilibrio Postural/fisiología , Vasculitis Retiniana/complicaciones , Vasculitis Retiniana/diagnóstico , Índice de Severidad de la Enfermedad , Síndrome , Talasemia/diagnóstico , Vasculitis del Sistema Nervioso Central/complicaciones , Vasculitis del Sistema Nervioso Central/diagnósticoRESUMEN
The hemoglobinopathies are a very heterogeneous group of congenital hemolytic anemias, which includes hemoglobin (Hb) variants, thalassemia and hereditary persistence of fetal hemoglobin (HPFH). The aim of this study was to determine the frequency of hemoglobinopathies using the High Performance Liquid Chromatography (HPLC-CE) technique with the beta-thalassemia Short Program of Variant* Bio Rad. Four thousand blood samples from anemic patients from the Laboratorio de Investigación de Hemoglobinas Anormales, Hospital Universitario de Caracas were studied. Twenty six percent of the anemia patients had hemoglobinopathies. The Hb S was the most frequent variant found, followed by the Hb C and Hb D. Also we observed the association of beta thalassemia with Hb S and Hb C. The quantification of the Hb A by HPLC-CE allowed us to classify the double heterozygote Hb S-Beta Thalassemia in Hb S-beta+ Tal Type 1, Hb S-beta+ Tal Type 2, Hb S-beta(0) Thalassemia. The double heterozygote patients with Hb C-Beta thalassemia were also classified. The HPLC-CE is a rapid, reproducible and precise technique. The reliability of HbA2 measurement by HPLC for the detection of beta thalassaemia without any false positive or false negative results is of great advantage. HPLC may be an appropriate method for rapid screening in population surveys for beta thalassemia and hemoglobin variants carriers. Due to the high incidence of cases, in our country this is very important for their clinical management and the genetic and anthropological impact of an early and precise diagnosis.
Asunto(s)
Cromatografía Líquida de Alta Presión , Hemoglobinopatías/diagnóstico , Estudios de Cohortes , Hemoglobinopatías/epidemiología , Humanos , Talasemia/diagnóstico , Talasemia/epidemiología , Venezuela/epidemiologíaRESUMEN
Anaemia is not a disease in itself. It is a sign of a single or multiple diseases. Anaemia is said to exist when the haemoglobin concentration is below normal for the age and sex of an individual. The synthesis and normal circulatory level of haemoglobin in any given individual depend on factors such as an adequate supply of haemopoietic nutrients, normal functioning of bone marrow, and proper utilization of haemoglobin. Based on these factors anemia can be broadly grouped into three categories: 1. Anaemia due to lack of haemopoietic nutrients (nutritional anemia) 2. Anaemia due to bone marrow dysfunction (aplastic anaemia) 3. Anaemia due to excessive breakdown of red blood cells (haemolytic anaemia) (AU)
Asunto(s)
Humanos , Anemias Nutricionales/complicaciones , Anemia Megaloblástica/clasificación , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/prevención & control , Anemia Aplásica/clasificación , Anemia Aplásica/etiología , Anemia Aplásica/diagnóstico , Anemia Aplásica/tratamiento farmacológico , Hemólisis/efectos de los fármacos , Anemia Hemolítica/complicaciones , Anemia Hemolítica/diagnóstico , Anemia Hemolítica/etiología , Hemoglobinuria Paroxística/diagnóstico , Talasemia/diagnóstico , Talasemia/etiologíaRESUMEN
We report a case in which the interaction of heterozygosis for both the 0-IVS-II-1 (G->A) mutation and the alpha alpha alpha anti-3,7 allele was the probable cause for the clinical occurrence of thalassemia intermedia. The propositus, a 6-year-old Caucasian Brazilian boy of Portuguese descent, showed a moderately severe chronic anemia in spite of having the -thalassemia trait. Investigation of the alpha-globin gene status revealed heterozygosis for alpha-gene triplication (alpha alpha alpha / alpha alpha). The patient's father, also presenting mild microcytic and hypochromic anemia, had the same alpha and genotypes as his son, while the mother, not related to the father and hematologically normal, was also a carrier of the alpha alpha alpha anti-3,7 allele. The present case emphasizes the need for considering the possibility of alpha-gene triplication in -thalassemia heterozygotes who display an unexpected severe phenotype. The -thalassemia mutation found here is being described for the first time in Brazil.
Asunto(s)
Alelos , Globinas/genética , Heterocigoto , Mutación/genética , Talasemia/genética , Niño , Genotipo , Humanos , Masculino , Reacción en Cadena de la Polimerasa , Índice de Severidad de la Enfermedad , Talasemia/diagnóstico , Talasemia beta/genéticaRESUMEN
When a patient must be studied for a suspected hemoglobin abnormality, several approaches should be followed. The most important mean for establishing the relationship between a given abnormality and the clinical effect, assessing if the pathology is congenital, inherited, a "novo mulation" or even acquired, is a complete family study with a normal control, avoiding the workout of a transfused patient. Through the clinical history the following information should be investigated: patient and ancestors geographical background, evidence of hyperthemolysis or increased hemolysis by oxidant drugs exposure or infection, antecedents of paintful abdominal or bone crisis, splenomegaly, gallstones, cyanosis, erythrocytosis, etc.Its recomended to conduct the following laboratory studies: 1)hematological evaluation with automated cellcounter, careful observation of the red cell morphology and reticulocyte count, 2)electrophoretic analysis, 3)cuantification of Hb A2, 4)detection of Hb S and 5)detection of unstable hemoglobin variants (AU)
Asunto(s)
Humanos , Hemoglobinopatías/diagnóstico , Talasemia/diagnóstico , HemoglobinasRESUMEN
La diferencia en la concentración de hemoglobina y hematocrito entre blancos y negros ha sido motivo de controversia durante los últimos treinta años. Varios estudios han demostrado diferencias significativas que oscilan entre los 0.5 - 0.7 g/dl en los niveles de hemoglobina a favor de los individuos de raza blanca; lo que provocaría una sobre estimación del estado de anemia cercana al 10 por ciento. El establecer esta posible diferencia, permitirá la definición de puntos de corte diferenciales para su aplicación en encuestas nutricionales, manejo clínico, monitoreo de intervenciones dietéticas y de salud pública; especialmente en países como el nuestro, donde el 5 por ciento de la población total es de raza negra. Se seleccionaron propositivamente, mediante un diseño transversal 200 escolares de la ciudad de Esmeraldas, clínicamente sanos (100 afroecuatorianos y 100 mestizos), con edades comprendidas entre los 6 y 12 años de edad; quienes fueron sometidos a valoración antropométrica, análisis hematimétrico completo, determinación de protoporfirina eritrocitaria libre, examen coproparasitario, determinación indirecta de HbS y frotis sanguíneo para descartar la presencia de malaria. En la muestra general no se encontraron diferencias significativas entre la concentración de hemoglobina por grupo ...
Asunto(s)
Humanos , Población Negra , Eritrocitos/metabolismo , Población Blanca , Hemoglobinopatías , Hemoglobinas , Talasemia/clasificación , Talasemia/diagnóstico , Talasemia/terapiaRESUMEN
Se presenta un análisis de los alelos talasémicos observados en mestizos mexicanos: En 18 pacientes no emparentados con anemia hemolítica de moderada a severa (16 con ß-tal y 2 con Ó-tal), se identificaron 25 cromosomas con 14 alelos diferentes (10 para ß-tal) con predominio de alelos del Mediterráneo (7 ß-tal y 2 Ó-tal). La mutación más común fue la sin sentido Cd 39, observada en siete cromosomas (28 por ciento); se observaron, además tres alelos asiáticos, uno ß-tal hindú (l-1 nt 5 GÄC), dos del sureste de Asia (Ä SEA Y ÄFIL), uno originario de judíos curdos (-28 AÄC) y uno mexicano (Cd 11-T), lo que muestra una heterogeneidad molecular alta en nuestra población
Asunto(s)
Niño , Adolescente , Adulto , Humanos , Masculino , Femenino , Alelos , Anemia Hemolítica/fisiopatología , Anemia Hemolítica/genética , Índices de Eritrocitos/genética , Hierro/metabolismo , Mutación/genética , Talasemia/diagnóstico , Talasemia/genéticaRESUMEN
Se presenta un caso de hidrops fetal no inmune provocado por una anemia hemolítica severa secundaria a una talasemia familiar pesquisada a las 28 semanas y que revierte luego de transfusión intravascular, TIV, practicada en nuestro servicio. Se analiza el diagnóstico, manejo prenatal y posterior evolución
Asunto(s)
Humanos , Femenino , Embarazo , Recién Nacido , Adulto , Anemia Hemolítica Congénita/diagnóstico , Hidropesía Fetal/complicaciones , Talasemia/diagnóstico , Transfusión Sanguínea , Evolución Clínica , Cordocentesis/estadística & datos numéricos , Enfermedades Genéticas Congénitas/diagnóstico , Hidropesía Fetal , Hidropesía Fetal/terapia , Talasemia/complicaciones , Ultrasonografía PrenatalRESUMEN
A hemoglobina D-Punjab foi descrita em vários grupos étnicos, tanto em heterozigose simples quanto em associaçäo com Hb S ou ß-talassemia. Neste trabalho descrevemos uma paciente brasileira, negra de 10 anos de idade que apresentava características clínicas de doença falciforme. O padräo eletroforético sugeriu a associaçäo Hb S/Hb D. A mutaçäo da Hb D foi confirmada através da digestäo do fragmento amplificado do gene da globina ß com a enzima EcoRI e sequencialmente direto do fragmento amplificado. A mutaçäo muda uma base no codon 121 e abole o sítio de reconhecimento normal da enzima, possibilitando o reconhecimento do gene anormal em electroforese de gel de agarose. Estes dados representam a segunda descriçäo comprovada da associaçäo Hb S/Hb D no Brasil e indicam que a presença da Hb D deve ser investigada, pelo método aqui descrito, em casos de doença falciforme com padräo eletroforético anômalo
Asunto(s)
Humanos , Femenino , Niño , Hemoglobina Falciforme , Hemoglobinopatías/diagnóstico , Hemoglobinas Anormales , Desoxirribonucleasa EcoRI , ADN/análisis , Enfermedad de la Hemoglobina SC/diagnóstico , Enfermedad de la Hemoglobina SC/genética , Electroforesis en Gel de Agar , Hemoglobinopatías/genética , Reacción en Cadena de la Polimerasa , Talasemia/diagnóstico , Talasemia/genéticaRESUMEN
Se analiza un caso de beta talasemia menor destacable por el predominio de anemia monosintomática sobre los signos de hiperplasia del sistema mononuclear fagocítico y/o metabolismo pigmentario. Se caracterizó por niveles inusualmente elevados de HbF. En base a la misma, se discuten los pasos diagnósticos a seguir frente a los síndromes talasémicos, con especial referencia a la electroforesis de hemoglobinas (AU)