Níveis séricos de vitamina D e urinários de KIM-1 e MCP-1 em pacientes com anemia falciforme / Serum levels of vitamin D, and urinary levels of KIM-1 and MCP-1 in patients with sickle cell anemia

Objetivo: realizar dosagens de biomarcadores de função renal não convencionais em pacientes com anemia falciforme e associar com os níveis séricos de vitamina D. Métodos: trata-se de um estudo observacional, analítico de corte transversal. Participaram do estudo 51 pacientes adultos com anemia falciforme, e o grupo controle foi composto por 17 adultos saudáveis doadores de sangue. Os níveis séricos de 25- hidroxi-vitamina D foram determinados por imunoensaio quimioluminecente de micropartículas (CMIA), e a função renal foi avaliada pelas dosagens de molécula-1 de lesão renal (KIM-1) e proteína-1 quimiotática de monócitos (MCP-1). Os resultados foram expressos como mediana (intervalo interquartil). Os testes t-Student de amostras independentes, análise de variância de Welch e teste não paramétrico de Kruskal-Wallis foram realizados para comparar as diferenças entre os grupos. Resultados: os pacientes apresentaram níveis séricos de vitamina D superiores ao grupo controle, além de uma maior prevalência de suficiência de vitamina D. Os níveis urinários de KIM-1 e MCP-1 estavam aumentados nos pacientes em relação ao grupo controle. Não houve relação entre baixos níveis séricos de vitamina D e a probabilidade de desenvolvimento de doença renal. Conclusões: este estudo fornece dados importantes sobre a prevalência da deficiência de vitamina D em pacientes com anemia falciforme e demonstra não haver relação entre baixos níveis de vitamina D e desenvolvimento de doença renal.

Objective: to measure non-conventional renal function biomarkers in patients with sickle cell anemia and associate them with serum levels of vitamin D. Method: this is an observational, analytical, cross-sectional study. Fifty-one adult patients with sickle cell anemia participated in the study, and the control group consisted of 17 healthy adult blood donors. Serum levels of 25-hydroxyvitamin D were determined by chemiluminescent microparticle immunoassay (CMIA), and renal function was assessed by measuring urinary Kidney Injury Molecule-1 (KIM-1) and Monocyte Chemoattractant Protein-1 (MCP-1). Results were expressed as median (interquartile range). Student's t-test, Welch analysis of variance, and non-parametric Kruskal-Wallis test were performed to compare differences between groups. Results: patients had higher serum levels of vitamin D than the control group, besides a higher prevalence of vitamin D sufficiency. Urinary levels of KIM-1 and MCP-1 were increased in patients compared to the control group. There was no relationship between low serum vitamin D levels and the likelihood of developing kidney disease. Conclusions: this study provides important data on the prevalence of vitamin D deficiency in patients with sickle cell anemia and demonstrates that there is no relationship between low levels of vitamin D and the development of kidney disease.

Frecuencia de hemoglobinopatías en mujeres embarazadas del programa de anemias por hematíes falciformes en Cuba / Frequency of hemoglobinopathies among pregnant women from the sickle cell anemia program in Cuba

Introducción: Las hemoglobinopatías se consideran errores monogénicos hereditarios y están caracterizados por defectos en la molécula de hemoglobina. En Cuba, la detección prenatal de hemoglobinopatías se realiza a través de la electroforesis de hemoglobina para identificar parejas de alto riesgo. El programa brinda: asesoramiento genético, diagnóstico prenatal molecular e interrupciones selectivas de fetos afectados, a solicitud de las parejas. Objetivo: Determinar la frecuencia de hemoglobinopatías en mujeres embarazadas residentes en Cuba. Métodos: Se realizó un estudio descriptivo, retrospectivo y de corte transversal para determinar la frecuencia de hemoglobinopatías en 1 342 917 mujeres embarazadas captadas en el periodo 2009-2019. El método diagnóstico de la pesquisa fue la electroforesis de hemoglobina en geles de agarosa a pH alcalino. La confirmación se realizó por electroforesis de hemoglobina en gel de agarosa a pH ácido; ambos métodos mediante la tecnología HYDRASYS. Resultados: La frecuencia global de embarazadas con hemoglobinopatías fue de 3,5 por ciento. Se detectó hemoglobinopatías en 47 465 mujeres; 38 698 con variante S heterocigoto, 8 706 variantes de hemoglobina C y 158 de otras variantes. Se detectaron 44 283 esposos con hemoglobinopatías, 3 099 parejas de alto riesgo y se realizaron 2 689 diagnósticos prenatales moleculares. Se confirmaron 522 fetos afectados y 382 parejas solicitaron la interrupción del embarazo. El subprograma alcanzó 99,24 por ciento de cobertura en el país. Conclusión: La alta frecuencia de hemoglobinopatías en Cuba justifica la importancia de continuar el subprograma de detección de portadores para prevenir la aparición de las formas graves de la enfermedad(AU)

Introduction: Hemoglobinopathies are hereditary monogenic errors characterized by defects in the hemoglobin molecule. In Cuba, prenatal detection of hemoglobinopathies is performed by hemoglobin electrophoresis to identify high-risk couples. The program offers genetic counseling, prenatal molecular diagnosis and selective pregnancy termination in case of affected fetuses at the request of couples. Objective: Determine the frequency of hemoglobinopathies among pregnant women living in Cuba. Methods: A descriptive cross-sectional retrospective study was conducted to determine the frequency of hemoglobinopathies in 1 342 917 pregnant women recruited in the period 2009-2019. Screening was based on the diagnostic method of hemoglobin electrophoresis in alkaline pH agarose gels. Confirmation was performed with hemoglobin electrophoresis in acid pH agarose gel. Both methods used HYDRASYS technology. Results: Overall frequency of pregnant women with hemoglobinopathies was 3.5 percent. Hemoglobinopathies were detected in 47 465 women: 38 698 with variant S heterozygote, 8 706 with variants of hemoglobin C y 158 with other variants. 44 283 husbands with hemoglobinopathies and 3 099 high-risk couples were detected, and 2 689 prenatal molecular diagnostic tests were conducted. A total 522 affected fetuses were confirmed, and 382 couples requested pregnancy termination. The subprogram achieved 99.24 percent coverage in the country. Conclusion: The high frequency of hemoglobinopathies in Cuba justifies the importance of continuing the carrier detection subprogram to prevent the emergence of severe forms of the disease(AU)

Perda auditiva na hemoglobinopatia SC (HbSC): relato de caso / Hearing loss in SC hemoglobinopathy (HbSC): case report

Introdução: Doença falciforme (DF) engloba um conjunto de hemoglobinopatias marcadas pela hemoglobina (Hb) anormal S (HbS). A HbS possui um formato de foice e aumento de rigidez, culminando em hemólise. Além disso, dificulta a passagem pela microcirculação sanguínea, causando vaso-oclusão e lesão isquêmica em diversos órgãos e tecidos. Na orelha interna, tem sido descrita como os responsável por danos auditivos. Objetivo: apresentar um relato de caso de paciente do sexo feminino com doença falciforme, acometida de perda auditiva sensorioneural (PASN) bilateral assimétrica. Relato do caso: paciente do sexo feminino, destra, 45 anos, compareceu para avaliação, queixando se de diminuição da audição e zumbido na orelha esquerda. Foi submetida à avaliação audiológica, constituída por audiometria tonal limiar, logoaudiometria, imitanciometria, emissões otoacústicas por produto de distorção (EOAPD) e potencial evocado auditivo do tronco encefálico (PEATE). Resultados: constatou-se: perda auditiva sensorioneural bilateral de grau leve na orelha direita e severo na orelha esquerda; presença dos reflexos estapedianos contralaterais na orelha direita e ausência na orelha esquerda; curvas timpanométricas tipo A; ausência de emissões otoacústicas bilateralmente; e os potenciais auditivos evocados do tronco encefálico dentro dos padrões de normalidade. Discussão: diversos mecanismos estão envolvidos na relação DF e PASN, como a falta de oxigenação e infarto do órgão de Corti, hemorragia labiríntica e labirintite ossificante, bem como uma associação entre o nível de viscosidade sanguínea, disfunção endotelial e hipertensão sistêmica. E ainda deve ser considerada a questão de dominância hemisférica na assimetria da perda. Conclusão: os conhecimentos sobre as características dos danos auditivos na HbSC ainda não são conclusivos e merecem mais investigações. A implementação de avaliações periódicas da função auditiva tem contribuído para prevenir a progressão dos danos e auxiliado no tratamento precoce.

Introduction: Sickle cell disease (SCD) comprises a set of hemoglobinopathies marked by abnormal hemoglobin (Hb) S (HbS). HbS has a sickle shape and increased stiffness culminating in hemolysis, in addition to making it difficult to pass through the blood microcirculation, causing vessel-occlusion and ischemic damage in various organs and tissues. In the inner ear, they have been described as responsible for hearing damage. Objective: describing a case report of a female patient with sickle cell disease affected by asymmetric bilateral sensorineural hearing loss (SNHL). Case report: a 45-year-old female patient, right-handed, came for evaluation, complaining of decreased hearing and tinnitus in her left ear. She underwent audiological evaluation consisting of pure tone audiometry, logoaudiometry, immittance testing, distortion product otoacoustic emissions (DPOAE) and brainstem auditory evoked potential (BAEP). Results: bilateral mild sensorineural hearing loss in the right ear and severe in the left ear, presence of contralateral stapedial reflexes in the right ear and absence in the left ear, type A tympanometric curves, absence of bilateral otoacoustic emissions and the brainstem auditory evoked potentials within the normality patterns. Discussion: Several mechanisms are involved in the SCD and SNHL relationship, such as the lack of oxygen and infarction of the Organ of Corti, labyrinthine hemorrhage and ossifying labyrinthitis, as well as an association between the level of blood viscosity, endothelial dysfunction and systemic hypertension. And the question of hemispheric dominance in the loss asymmetry must still be considered. Conclusion: knowledge about the characteristics of hearing damage in HbSC is not yet conclusive and deserves further investigation. Implementation of periodic auditory function assessments has helped to prevent the progression of damage and has helped in early treatment.

Patologías del niño inmigrante en la Unidad de Cuidados Intensivos: actualización / Pathologies of the immigrant child in the Intensive Care Unit: update

Resumen: Cada vez es más frecuente la atención médica en la Unidad de Cuidados Intensivos (UCI) de niños o adolescentes inmigrantes como también de aquellos nacidos en nuestro país con padres en tal condición. Esto ha ocasionado, en la actualidad, que el equipo de salud se deba enfrentar con problemas diagnósticos derivados del escaso conocimiento de condiciones genéticas propias de esta población y/o el desarrollo de diversas patologías infrecuentes en nuestro país, algunas resultantes de su condi ción sanitaria. En esta revisión se abordan diversos aspectos de la patología hematológica, infecciosa, parasitaria, respiratoria y cardiovascular, todos tópicos relevantes de conocer durante su estadía en la UCI. Es un deber del equipo de salud actualizarse sobre patologías de baja prevalencia en nuestro país, algunas de ellas muy poco conocidas hasta hace una década, pero que, actualmente, están cada vez más presentes en las UCI del sistema de salud público chileno.

Abstract: It is increasingly common to provide medical care in the Intensive Care Unit (ICU) for immigrant children and adolescents as well as those born in Chile with parents in such condition. Currently, this has caused that the health team has to face diverse infrequent pathologies in our country and/ or diagnostic problems derive from the poor knowledge of genetic conditions of this population, some resulting from their health conditions. This review addresses several aspects of hematological, infectious, parasitic, respiratory, and cardiovascular pathologies, all relevant topics to know during their stay in the ICU. It is a duty of the health team to be updated on pathologies of low prevalence in our country, some of them very little known until a decade ago, but which are currently increasingly present in the ICUs of the Chilean public health system.

Anemia hemolítica autoinmune por crioaglutininas y crisis aplásica en una paciente con hemoglobinopatía SC / Autoimmune hemolytic anemia with cryoagglutinins and aplastic crisis in a patient with SC hemoglobinopathy

La infección por parvovirus B19 humano, es la causa de la mayor parte de los casos de crisis aplásica transitoria que aparecen de forma brusca en pacientes con enfermedades hemolíticas crónicas, como es el caso de la drepanocitosis. Por otra parte, se han descrito unos pocos casos de infección aguda, por parvovirus B19 humano como causa de anemia hemolítica autoinmune, por medio de la formación de anticuerpos dirigidos contra los glóbulos rojos. La asociación entre drepanocitosis y anemias hemolíticas autoinmunes es poco frecuente. Se reporta un caso poco usual de una paciente adulta, con antecedentes de hemoglobinopatía S/C que presentó una crisis aplásica y posteriormente apareció una anemia hemolítica autoinmune diagnosticada en el Instituto de Hematología e Inmunología. Se trató con dosis inmunosupresoras de esteroide, con lo que se alcanzó la remisión de la anemia hemolítica autoinmune(AU)

Infection with human B19 parvovirus is the cause of most cases of transient aplastic crisis that appear in patients with chronic hemolytic diseases, as in the case of sickle cell disease. On the other hand, a few cases of acute infection by human parvovirus B19 have been described as a cause of autoimmune hemolytic anemia, through the formation of antibodies directed against red blood cells. The association between sickle cell disease and autoimmune hemolytic anemia is rare. We report an unusual case of an adult patient, with a history of S C hemoglobinopathy who presented an aplastic crisis and subsequently an autoimmune hemolytic anemia diagnosed at the Institute of Hematology and Immunology, treated with high steroids doses, reaching the remission of autoimmune hemolytic anemia and constitutes the first report in Cuba(AU)

Clinical and hematological profile in a newborn cohort with hemoglobin SC / Perfil clínico e hematológico em uma coorte neonatal com hemoglobina SC

Abstract Objectives: Hemoglobin SC is the second most common variant of sickle-cell disease worldwide, after hemoglobin SS. The objectives of the study were to describe the clinical and laboratory characteristics of hemoglobin SC disease in children from a newborn screening program and treated at a blood center. Methodology: This study assessed a cohort of 461 infants born between 01/01/1999 and 12/31/2012 and followed-up until 12/31/2014. Clinical events were expressed as rates for 100 patient-years, with 95% confidence intervals. Kaplan-Meier survival curves were created. Results: The median age of patients was 9.2 years; 47.5% were female. Mean values of blood tests were: hemoglobin, 10.5 g/dL; reticulocytes, 3.4%; white blood cells, 11.24 × 109/L; platelets, 337.1 × 109/L; and fetal hemoglobin, 6.3%. Clinical events: acute splenic sequestration in 14.8%, blood transfusion 23.4%, overt stroke in 0.2%. The incidence of painful vaso-occlusive episodes was 51 (48.9-53.4) per 100 patient-years and that of infections, 62.2 episodes (59.8-64.8) per 100 patient-years. Transcranial Doppler ultrasonography (n = 71) was normal given the current reference values for SS patients. Hydroxyurea was given to ten children, all of whom improvement of painful crises. Retinopathy was observed in 20.3% of 59 children who underwent ophthalmoscopy. Avascular necrosis was detected in seven of 12 patients evaluated, predominantly in the left femur. Echocardiogram compatible with pulmonary hypertension was recorded in 4.6% of 130 children, with an estimated average systolic pulmonary artery pressure of 33.5 mmHg. The mortality rate from all causes was 4.3%. Conclusions: Clinical severity is variable in SC hemoglobinopathy. Several children have severe manifestations similar to those with SS disease.

Resumo Objetivos: A hemoglobinopatia SC é a segunda variante mais comum da doença falciforme no mundo, após a hemoglobinopatia SS. Os objetivos do estudo foram descrever as características clínicas e laboratoriais da hemoglobinopatia SC em recém-nascidos diagnosticados por programa de triagem neonatal e encaminhados para acompanhamento em hemocentro. Metodologia: Coorte de 461 recém-nascidos SC nascidos entre 01/01/1999 e 31/12/2012 e seguidos até 31/12/2014. A incidência de eventos clínicos foi expressa por taxas relativas a 100 pacientes-ano, com limites de confiança a 95%. Curvas de sobrevida foram construídas segundo Kaplan-Meier. Resultados: Mediana de idade, 9,2 anos; 47,5%, feminino. Médias dos valores hematológicos: hemoglobina 10,5 g/dL; reticulócitos 3,4%; leucometria 11,24 x 109/L; plaquetometria 337,1x109/L; hemoglobina fetal 6,3%. Eventos clínicos: sequestro esplênico agudo em 14,8%, hemotransfusão 23,4%, AVC isquêmico 0,2%. A incidência de episódios vaso-oclusivos dolorosos foi de 51 (48,9-53,4) por 100 pacientes-ano; a de infecções, 62,2 episódios (59,8-64,8) por 100 pacientes-ano. Doppler transcraniano (n = 71) foi normal, se usados os valores de referência de crianças SS. Dez pacientes usaram hidroxiureia, todos com melhoria das crises dolorosas. Retinopatia foi observada em 20,3% das 59 crianças que fizeram fundoscopia. Necrose avascular foi detectada em 7 de 12 pacientes avaliados, com predomínio no fêmur esquerdo. Ecocardiograma compatível com hipertensão pulmonar foi registrado em 4,6% de 130 crianças, com média estimada de 33,5 mm Hg de pressão arterial pulmonar. A taxa de mortalidade por todas as causas foi de 4,3%. Conclusões: A hemoglobinopatia SC tem gravidade variável; várias crianças apresentam manifestações clínicas intensas, semelhantes às da hemoglobinopatia SS.

Talasemias: Aspectos clínicos / Thalassemias: Clinical aspects / Talassemias: Aspectos clínicos

Los síndromes talasémicos, junto con las hemoglobinopatías talasémicas, las hemoglobinopatías estructurales y los síndromes de sobreexpresión representan las diferentes formas clínicas de las hemoglobinopatías. Los defectos genéticos responsables de los síndromes talasémicos determinan la síntesis disminuída o nula de la cadena de globina correspondiente. Según la cadena cuya síntesis es defectuosa, los síndromes talasémicos se clasifican en a-talasemias, b-talasemias, etc. Según las diferentes combinaciones de fenotipos particulares, las a-talasemias se clasifican en silente, portador, enfermedad con hemoglobina H e hidropesía fetal, y las b-talasemias en menor, intermedia y mayor. La sospecha diagnóstica de los síndromes talasémicos leves y de las hemoglobinopatías talasémicas es fácil a partir de la anemia leve con marcada microcitosis hipocrómica, ausencia indudable de ferropenia y cuadro familiar positivo. La electroforesis de hemoglobina con una cuantificación de hemoglobina A2 mayor de 3,5% prácticamente confirma el diagnóstico de una b-talasemia menor, mientras que una hemoglobina A2 normal o disminuida va a hacer sospechar una a-talasemia leve cuyo diagnóstico debe ser confirmado por estudio de ADN. Una vez establecida la condición talasémica del propósito es imprescindible identificar qué familiares consanguíneos son o no portadores del mismo gen talasémico, y estudiar a los cónyuges de los talasémicos detectados, a fin de prever, a través del consejo genético, el nacimiento de hijos homocigotas o doble heterocigotas con formas más severas de talasemias o hemoglobinopatías.

Thalassemic syndromes, together with thalassemic hemoglobinopathies, structural hemoglobinopathies and over-expression syndromes represent the different clinical presentations of hemoglobinopathies, which are the mutational or deletional defects of globin genes. Genetic defects responsible for thalassemic syndromes determine a reduced or a lack of synthesis of the related chain. According to the defective synthesized chain, thalassemias are classified into a-thalassemias, b-thalassemias, etc. Depending on the different combinations of two or more phenotypes, a-thalassemias are classified into silent, carrier, Hb H disease and fetal hydrops, while b-thalassemias are classified into minor, intermediate and major b-thalassemia. Diagnostic suspicion of mild thalassemic syndromes and thalassemic hemoglobinopathies is easy based on a mild anemia with pronounced microcytosis and hypochromia, unquestionable absence of iron deficiency and positive family background. Hemoglobin electrophoresis with A2 hemoglobin level higher than 3.5% almost confirms a b-thalassemia minor, while a low or normal A2 hemoglobin level makes mild a-thalassemia suspicious and diagnosis must be confirmed by DNA study. Once the thalassemic condition of the propositus is confirmed, it is essential to identify which consanguineous relatives are or are not carriers of the same thalassemic gene, and then to study the couples of all already identified thalassemic relatives, in order to forecast, through genetic counselling, the birth of homozygous or double heterozygous children with more severe thalassemic or hemoglobinopathic conditions.

As síndromes talassêmicas, junto com as hemoglobinopatias talassêmicas, as hemoglobinopatias estruturais e as síndromes de sobre-expressão representam as diferentes formas clínicas das hemoglobinopatias. Os defeitos genéticos responsáveis pelas síndromes talassêmicas determinam a síntese diminuída ou nula da cadeia de globina correspondente. Segundo a cadeia cuja síntese é defeituosa, as síndromes talassêmicas são classificadas em a-talassemias, b-talassemias, etc. Conforme as diferentes combinações de fenótipos particulares, as a-talassemias são classificadas em silente, portador, doença com hemoglobina H e hidropesia fetal, e as b-talassemias em menor, intermediária e maior. A suspeita diagnóstica das síndromes talassêmicas leves e das hemoglobinopatias talassêmicas é fácil a partir da anemia leve com marcada microcitose hipocrômica, ausência induvidável de ferropenia e quadro familiar positivo. A eletroforese de hemoglobina com uma quantificação de hemoglobina A2 maior de 3,5% praticamente confirma o diagnóstico de uma b-talassemia menor, ao passo que uma hemoglobina A2 normal ou diminuída vai fazer suspeitar uma a-talassemia leve cujo diagnóstico deve ser confirmado por estudo de DNA. Assim que é estabelecida a condição talassêmica do propósito, é imprescindível identificar quais são os familiares consanguíneos e quais não são portadores do mesmo gene talassêmico, e estudar os cônjuges dos talassêmicos detectados, visando a prever, através do conselho genético, o nascimento de filhos homozigotas ou duplo-heterozigotas com formas mais severas de talassemias ou hemoglobinopatias.

Hemoglobina Fannin-Lubbock I y II, dos variantes que comparten una mutación / Hemoglobin Fannin-Lubbock I and II, two variants sharing a mutation

Hemoglobin (Hb) Fannin-Lubbock I (beta119 [GH2]), GGC>GAC, Gly>Asp) and Hb Fannin-Lubbock II (beta111 [G13]), GTC>CTC, Val>Leu and beta 119 (GH2), GGC >GAC, Gly>Asp), share the mutation at position 119, both abnormal hemoglobins have similar fast electrophoretic mobility due the Gly>Asp change. Hb Fannin-Lubbock, is classified in the group of unstable hemoglobins, without alteration in their affinity for oxygen; the mutation at amino acid 119 and that of amino acid 111 participate in the interaction of the alpha1beta1 chains, with important links in the stability of the molecule, so that both substitutions could affect the stability of the molecule. Initially the instability of the variant was attributed to mutation 111, however, our group confirmed that the mutation at amino acid 119 is responsible for the instability to the molecule. In this paper, we analyze the first observations of Hb Fannin-Lubbock in 1976 and in 1982, the demonstration of Hb Fannin-Lubbock II by DNA sequencing as well as the evidence of two different mutations by DNA analysis, the Hb Fannin-Lubbock I observed mainly in families of Mexican origin and Hb Fannin-Lubbock II in families of Spanish origin, we also present the hematological characteristics of both types and the indirect evidence that the Hb Fannin-Lubbock I observed in a Mexican family and in a Hind

La hemoglobina (Hb) Fannin-Lubbock I (beta119 (GH2), GGC>GAC, Gly>Asp) y la Hb Fannin-Lubbock II (beta111 (G13), GTC>CTC, Val>Leu y beta119 (GH2), GGC>GAC, Gly>Asp), comparten la mutación en la posición 119, tienen movilidad electroforética rápida similar debida al cambio Gly>Asp. La Hb FanninLubbock se clasifica en el grupo de hemoglobinas inestables, sin alteración en su afinidad por el oxígeno; tanto la mutación en el aminoácido 119 como la del aminoácido 111 participan en la interacción de las cadenas alfa1beta1, por lo que ambas sustituciones podrían afectar la estabilidad de la molécula. Inicialmente la inestabilidad de la Hb se atribuyó a la mutación 111, sin embargo, nuestro grupo confirmó que la mutación en el aminoácido 119 es la responsable de la inestabilidad de la molécula. En este trabajo se analizan las primeras observaciones de la Hb Fannin-Lubbock en 1977 y en 1982, la demostración de la Hb Fannin-Lubbock II por secuenciación de ADN, así como la evidencia de dos mutaciones diferentes por análisis de ADN, la Hb Fannin-Lubbock I observada principalmente en familias de origen mexicano y la Hb Fannin-Lubbock II en familias de origen español, así como las características hematológicas de ambos tipos y la evidencia indirecta de que la Hb Fannin-Lubbock I observada en una familia mexicana y en una familia india se asocian con haplotipos beta distintos, lo que sugiere que surgieron por eventos mutacionales independientes

Dental considerations on the management of Idiopathic Thrombocytopenic Purpura in children: case report / Considerações odontológicas no atendimento de crianças com Púrpura Trombocitopênica idiopática: relato de caso

Idiopathic Thrombocytopenic Purpura (ITP) is a hematological disease characterized by decreased number of blood platelets. Clinically, children with ITP may present petechiae, ecchymoses, haematuria, epistaxis and occasionally hemorrhage. Oral manifestations include spontaneous gingival bleeding, petechiae or hematomas of the mucosa, palate and tongue. It is important for dentists to be aware of ITP in order to properly recognize this condition and offer the adequate treatment to the patient. The aim of this report was, therefore, to relate the case of a 4-year-old patient with acute ITP, to review its main clinical signs in children and describe the management of these patients at the dental office.

Dentre as hemopatias a púrpura trombocitopênica idiopática (PTI) se enquadra no grupo de doenças com alterações plaquetárias e se caracteriza pela diminuição no número de plaquetas do sangue. Clinicamente, crianças com PTI podem apresentar petéquias, equimose, hematúria, epistaxe e ocasionalmente hemorragias teciduais. As manifestações bucais, quando presentes, se caracterizam pelo sangramento gengival espontâneo e petéquias ou hematomas na mucosa, palato e língua. Portanto, é fundamental que o cirurgião-dentista tenha conhecimento sobre a patologia e terapêutica necessária e assim possa determinar o tratamento ideal para estes pacientes. O objetivo do trabalho é relatar o caso de um paciente de 4 anos de idade com PTI aguda, discutir as principais manifestações clínicas em crianças e orientar o cirurgião-dentista para o correto manejo destes pacientes.

Morbilidad y mortalidad de la hemoglobinopatía sc en el Instituto de Hematología e Inmunología: Experiencia de 36 años / Morbility and mortality of hemoglobinopathy sc at the Institute of Hematology and Immunology: Experience of 36 years

Introducción: la hemoglobinopatía SC es la segunda variante de la drepanocitosis más frecuente en Cuba; sin embargo, existen pocos trabajos dirigidos a su estudio. Objetivo: realizar una caracterización de la historia natural de lahemoglobinopatía HSC, Métodos: se realizó un estudio observacional, descriptivo, retrospectivo y longitudinal en 148 pacientes con hemoglobinopatía HSC seguidos al menos 2 años en el Instituto de Hematología e Inmunología (1973-2009). Se definieron los eventos hematológicos según las normas cubanas de la drepanocitosis y los exámenes complementarios se realizaron en condiciones basales del paciente. Se utilizó la prueba de Chi Cuadrado para determinar asociación entre variables. Los parámetros de laboratorio se compararon mediante la prueba t Student. Para la estimación de la sobrevida global (SG) se empleó el método de Kaplan Meier. Resultados: predominó el sexo femenino (56,1 por ciento). La crisis vasoclusiva dolorosa (91,2 por ciento) y el síndrome torácico agudo (35,1 por ciento) fueron las manifestaciones clínicas más frecuentes. El 10,8 por ciento presentó afecciones oftalmológicas (hemovítreo, retinopatía, desprendimiento de retina y catarata). La esplenomegalia predominó en los pacientes menores de 40 años y la hepatomegalia se encontró en todas las edades. Hubo 36 mujeres con embarazos sin mortalidad materna ni perinatal y 26 abortos (65,4 por ciento fueron espontáneos). La anemia fue ligera pero más acentuada en el sexo femenino. Las funciones hepática y renal, mostraron deterioro con la edad. La supervivencia global a los 50 años fue del 79 por ciento. La causa de muerte más frecuente fue la insuficiencia renal crónica. Conclusiones: el aumento de la calidad y expectativa de vida de la HSC en Cuba es el resultado de la atención médica multidisciplinaria y el fácil acceso a los servicios de urgencia

Introduction: hemoglobinophatySC (HSC) is the second most common variant of sickle cell disease in Cuba and the world; nevertheless, there are few studies aimed in this field. Objective: to make the characterization of the natural history of HSC. Methods: an observational, descriptive, retrospective and longitudinal study was performed in 148 patients with HSC followed for at least two years at the Institute of Hematology and Immunology in the period 1973-2009. Hematological events according to Cuban procedures in sickle cell disease were determined and complementary studies were performed. Results: there was a predominance of females (56.1 percent). Vasocclusive painful crises (91.2 percent) and acute chest syndrome (35.1 percent) were the most frequent clinical events. Ophthalmology affections were present in 10,8 percent (hemovitreous, retinopathy, retinal detachment and cataract). Splenomegaly was predominant in patients under 40 years and hepatomegaly was found in all ages. There were 36 women with pregnancies without maternal or perinatal mortality. From 26 abortions (65.4 percent were spontaneous). Anemia was mild but more pronounced in females. Liver and kidney functions showed deterioration with age. Overall survival at 50 years was 79 percent. The main cause of death was chronic renal failure. Conclusions: increasing the quality of life and life expectancy of HSC in Cuba is the result of multidisciplinary comprehensive care and easy access to emergency services

O laboratório clínico na investigação dos distúrbios da hemoglobina / The clinical laboratory in the investigation of hemoglobin disorders

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.

Hemoglobinopatías de tipo S y embarazo. Resultados en la atención al perinato / S hemoglobinopathies and pregnancy. Outcomes in newly born

La procreación en la mujer con hemoglobinopatía de tipo S constituye un grave problema de salud reproductiva que, en Cuba, ha requerido una atención sostenida, diferenciada y multidisciplinaria durante 25 años, con vista a lo cual se diseñó y aplicó un protocolo específico de trabajo médico integral en el territorio. En este artículo, sus autores exponen los resultados perinatales y su valor estadístico, considerados por ellos como muy satisfactorios, teniendo en cuenta lo descrito en las referencias consultadas sobre el tema.

Procreation in women with hemoglobinopathy S-type is a serious reproductive health problem that in Cuba has required a sustained, differentiated and multidisciplinary care during 25 years, therefore a specific protocol of comprehensive medical work was designed and implemented in the territory. In this article the authors described the perinatal outcomes and their statistical value considered by them very satisfactory, taking into account what was described in the references on the topic.

Primer caso de hemoglobina Koln (codon98 GTC mayor ATG) en Costa Rica / First case of hemoglobin Koln (codon98 GTC mayor ATG) in Costa Rica

La exposición a ciertos medicamentos puede provocar anemia hemolítica con presencia de cuerpos de Heinz en sangre periférica. Esta anemia puede presentarse por sobredosis de medicamentos, tanto en individuos sanos como en personas con deficiencias enzimáticas como la glucosa-6-fosfato deshidrogenasa, o en presencia de hemoglobinas inestables. Este reporte muestra un caso de anemia hemolítica con cuerpos de Heinz, debido a la presencia de una hemoglobina inestable, cuyos estudios moleculares y HPLC confirmaron el primer caso descrito de hemoglobina Koln (Val98Met) en Costa Rica.

Exposure to certain drugs may result in hemolytic anemia with the appearance of Heinz-bodies in red blood cells. Thistype of hemolytic anemia may occur by simple drug overdosage in absence of any known abnormality, such as innormal persons or in patients with erithroid enzyme defects (e.g. G6PD deficiency) or unstable hemoglobins.1 The present report shows a Heinz-body hemolytic anemia because of an abnormal hemoglobin. High pressure liquid chromatography (HPLC) and molecular analysis confirmed the first case of Hemoglobin Köln in Costa Rica.

Complicación de una preeclampsia grave en una paciente portadora de hemoglobinopatía SC / Complication related to a severe pre-eclampsia and its complications in a patient carrier of SC hemoglobinopathy

Introducción: La hemoglobinopatía SC es una de las formas más severas de hemoglobinopatías S. Las pacientes con esta enfermedad tienen un riesgo incrementado de sufrir eclampsia, abortos, parto pretérmino, daño orgánico, infecciones y muerte súbita durante el embarazo. Objetivo: Identificar la conducta perioperatoria y evolución de una paciente con hemoglobinopatía SC asociada a preeclampsia grave. Presentación de caso: Se trata de una paciente con hemoglobinopatía SC asociada a preeclampsia grave, a la que se le realizó operación cesárea de urgencia con anestesia general orotraqueal. A pesar de la conducta seguida en el quirófano, desarrolló un cuadro sugestivo de hemolisis aguda con compromiso de varios órganos diana, agravamiento de la trombocitopenia y elevación concomitante de las transaminasas séricas. Conclusiones: La conducta preoperatoria debe ser orientada por un equipo multidisciplinario capaz de garantizar un tratamiento enérgico. Es de vital importancia que la atención a la preeclampsia con asociación o no de enfermedades poco comunes; se considere un síndrome multisistémico de severidad y curso variable. Es imprescindible lograr una adecuada perfusión orgánica, para evitar complicaciones futuras.

Introduction: SC hemoglobinopathy is one of the more severe ways of the S hemoglobinopathy. Patients presenting this disease have a high risk of eclampsia, miscarriages, pre-term labor, organic damage, infections, and sudden death during pregnancy. Objective: To identify Perioperative behavior and the course of a patient presenting with severe pre-eclampsia-associated SC hemoglobinopathy. A case presentation: A female patient presenting with severe pre-eclampsia-associated SC hemoglobinopathy had undergone an emergence secarean section using orothacheal general anesthesia. Despite the behavior followed in the operating theater, she developed a situation suggesting a acute hemodialysis with target organs involvement, worsening of thrombocytopenia, and concomitant rise of serum transaminases. Conclusions: Preoperative behavior must to be directed by a multidisciplinary team able to secure a vigorous treatment. It is very important that pre-eclampsia care associated or not with rare diseases be considered a multisystem syndrome of variable severity and course. It is essential to achieve a proper organic perfusion to avoid future complications.

Leucemia mielomonocítica aguda y drepanocitosis no tratada con hidroxiurea: A propósito de un caso / Acute Melanocytic Leukemia and Drepanocytosis non-treated with hydroxyurea a case report

Las enfermedades malignas asociadas a la anemia drepanocítica han sido reportadas previamente en un reducido número de pacientes, con el advenimiento de la terapia con hidroxiurea se ha observado un incremento en el riesgo de cáncer en estos enfermos; en nuestro caso clínico no se recoge el antecedente de ingestión de este medicamento. Paciente masculino de 25 años de edad, que acude con crisis hepática, con aumento de ictericia y bilirrubina a expensas de la directa, valores elevados de la transaminasa, hepatomegalia y caída de las cifras de hemoglobina a 40 g/L, blastos de un diámetro de 25 mc, granulares, algunos con núcleos de aspecto monocitoide, componente monocítico en periferia igual a 15%, conteo de leucocitos 120 x109/l,medulograma 80% de células blásticas, componente monocítico mayor del 20%, concluyéndose como Leucemia Mielomonocítica Aguda (LMA M4) según estudios citoquímicos diagnósticos además de un aumento de la lisozima y muramidasa superior a 13 mg lis/ml de plasma (Na acetatoesterasas ) positivo (NASA). Se realiza la plasmaféresis y la exanguinotransfusión haciendo dos recambios con amplia hidratación sin respuesta satisfactoria; el paciente fallece el tercer día del diagnóstico debido a Insuficiencia Respiratoria Aguda. Por lo inusual que resulta y por no existir casos reportados en la literatura Internacional de Síndrome Mieloproliferativo Agudo asociado a la Drepanocitosis no tratados con hidroxiurea, los autores presentan este caso clínico.

Malignant diseases related to sickle-cell anemia have been previously reported in a reduced number of patients, the risk of suffering from cancer in those patients have increased with the advent of the hydroxyurea treatment. In this case no evidence of being taken this medication was proved. A 25-years old male presenting hepatic crisis, jaundice, hyperbilirubinemia, high levels of transaminase, hepatomegaly and low red blood cell counts (40 g/l), blast cells of 25 µm in diameter, granular cell presenting nucleus of monocytic-like cells (some of them), monocytic component in periphery equal to 15 %, leucocytes counts 120x10(9)/l, medullogram: 80 % of blast cells, monocytic component greater than 20 %, concluded as Acute Myelomonocytic Leukemia (AML M4) diagnostic cyto-chemical studies showed an increase of lysozyme and muramidase higher than 13 mg lis/ml of plasma (a positive Na acetatoesterases). A plasmapheresis and ex-transfusion and two rechanges, deep rehydration. No satisfactory response was observed and the patient died on the third day with a diagnose of acute respiratory insufficiency. Because of this unsual disorder and no other cases described by the medical literature as an Acute Myeloproliferative Syndrome in association to Drepanocytosis non-treated with Hydroxyurea motivated the authors to present this case report.

Pfaffia paniculata extract improves hydratation of eritrocytes in vitro and sickle cell disease symptoms

Purpose: Pfaffia paniculata, a plant known as Brazilian ginseng, has been claimed by some patients suffering from sickle cell disease to have beneficial effects. In order to examine this assertion, a powder extract was obtained from the roots of the plant. Pacients and methods. The extract was studied to verified the desickling properties in vitro. We studied the behavior of blood cells treated with Pfaffia paniculate extract in vitro through morpholofic analyses of blood cells incubated with paffia paniculate extract in vitro. Thirty Brazilian patients with sickle cell disease receiving capsules containing the powder extract of Pfaffia paniculata (500 mg each) every 8 hours or capsules containing placebo were followed up for three months. The number of erythrocytes, reticulocytes, sickle cells, and peripheral erythroblast, hemoglobin (HB), hematocrit (HT), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and mean corpuscular hemoglobin concentration (MCHC), were determined in peripheral blood immediately before and 2 and 3 months after the beginning of the treatment. Results: Administration of Brazilian ginseng powder extract to patients having sickle cell resulted in decrease in sickle cells, erythroblast and reticulocytes in blood as well as increase in hemoglobin and hematocrit levels. Conclusion: The Pfaffic extract exhibited desickling properties when incubated with blood cells from deasese sickle cell disease patients or blood cells treated with 2% sodium methabisulphite. The clinical findings showed that treatment also led to improvement of the sintoms and signs in these patients.