Prevalencia de anemia drepanocitica en población de la comunidad de San Juan, Yoro / Prevalence of sickle cell disease in population of the community of San Juan, Yoro

La anemia drepanocitica es una hemoglobinopatía hereditaria, considerada un trastorno recesivo autosómico, se caracteriza por producción de hemoglobina defectuosa. Objetivo: establecer la prevalencia de anemia drepanocitica y algunas características de las personas que la padecen en la comunidad de San Juan, Yoro. Material y Métodos: estudio descriptivo de corte transversal; la población fue de 488 personas y la muestra de 220. La unidad de estudio fue seleccionada aleatoriamente. El estudio se desarrolló en tres momentos; Fase I: comprendió la organización de material y reactivos necesarios para realizar la prueba de inducción de drepanocitos. Fase II: incluyó la recepción de muestras, homogenización de las mismas con ayuda de un mezclador hematológico y la realización de hemograma completo, así como el montaje de la prueba de inducción de drepanocitos y observación microscópica de la prueba realizada. Fase III: comprendió el reporte de resultados en boletas de exámenes. Para la recolección de datos el grupo de trabajo se capacitó para la toma de la muestra de sangre, misma que fue realizada por un microbiólogo del Hospital Escuela Universitario. Se elaboró y aplicó a la muestra poblacional un instrumento tipo encuesta, con preguntas abiertas y cerradas. Resultados: la prevalencia de anemia drepanocitica fue de 10.4%, la relación femenino/masculino fue 1:1.3; la edad de los positivos fue: 10 de 16-45(43.5%), años 8 de 6-15(34.8%) años y 5(21.7%) de 46 y más. El 30.4% de la población con anemia perniciosa, poseían escolaridad de secundaria incompleta y el 26.1% percibían ingresos económicos. Conclusión: La prevalencia de la enfermedad encontrada es similar con la registrada por la Secretaría de Salud, predominó en el sexo masculino y se encontró en población mayor de 50 años, lo que podría indicar que la esperanza de vida ha mejorado en las personas con anemia drepanocitica...(AU)

La drepanocitosis en Cuba. Estudio en niños / Drepanocytosis in Cuba: Study in children

La drepanocitosis es la anemia hemolítica determinada genéticamente más frecuente en el mundo. En Cuba, la frecuencia del estado de portador es del 3,08 por ciento en la población general. La fisiopatología de la oclusión vascular es muy compleja; involucra la polimerización de la Hb S, las alteraciones de la membrana del hematíe, las moléculas de adhesión, las citocinas inflamatorias, los factores de la coagulación y lesiones del endotelio vascular. Las manifestaciones clínicas más frecuentes son: las crisis vasooclusivas dolorosas, el síndrome torácico agudo, la crisis de secuestro esplénico, la crisis aplástica, la necrosis aséptica de la cabeza del fémur y la úlcera maleolar. El cuadro clínico es muy variable: desde niños que mueren temprano en la vida hasta pacientes que alcanzan la sexta década de la vida. En el Instituto de Hematología e Inmunología existe un Programa de Atención Integral que incluye: seguimiento sistemático desde temprano en la vida en una consulta especializada, la administración de ácido fólico de forma permanente y de penicilina oral profiláctica los primeros 5 años de la vida; así como la educación del niño y de sus padres. Desde 1986 se realiza esplenectomía parcial en la crisis de secuestro esplénico con excelentes resultados. Entre 2004-2008 fallecieron solamente 16 enfermos en todo el país y en 397 adultos la sobrevida fue de 53 años en la anemia drepanocítica y de 58 en la hemoglobinopatía SC. Como resultado de este programa, en los últimos años la sobrevida ha aumentado, la calidad de vida del paciente ha mejorado y han disminuido los costos invertidos en el tratamiento de las complicaciones

Drepanocytosis is the hemolytic anemia more frequent genetically determined in the world. In Cuba, the frequency of carrier status is of 3,08 percent in general population. The pathophysiology of vascular occlusion is very complex; includes the polymerization of the Hb S, the alterations of red-blood cells, the adhesion molecules, the inflammatory cytokines, the coagulation factors and the lesions of the vascular endothelium. The more frequent clinical manifestations are: painful vaso-occlusive crises, the acute thoracic syndrome, the splenic sequestration crisis, the aplastic crisis, the aseptic necrosis of femur head and malleolar ulcer. The clinical picture is very variable: from children dying early in life up to patients achieve the sixth decade of life. In the Institute of Hematology and Immunology there is an Integral Care Program including: systematic follow-up from early in life in a specialized consultation, permanent administration of folic acid and of prophylactic oral penicillin during the first 5 years of age; as well as the child education and of parents. From 1986 it is carried out the partial splenectomy in crises of splenic sequestration with excellent results. Between 2004-2008 in all the country deceased only 16 patients and in 397 adults the survival rate was of 53 years in the drepanocythemia and of 58 in the SC hemoglobinopathy. As result of this program, in past years the survival has increased, the quality of life of patient improved and the costs spent in treatment of complications has decrease

Anemia hemolítica grave causada por hemoglobina Hammersmith / Severe hemolytic anemia due to hemoglobin Hammersmith

Las variantes estructurales de la hemoglobina resultan, en su mayoría, de sustituciones concretas de aminoácidos en una de las cadenas de globina. En muchos casos, estas hemoglobinopatías son inocuas, pero en otros determinan alteraciones de las propieddes físicas y químicas, cuyas manifestaciones clínicas son de gravedad y variable. En el caso de las hemoglobinas inestables, las alteraciones disminuyen la solubilidad y facilitan la formación de complejos de hemoglobina precipitada y desnaturalizada (cuerpos de Heinz), que ocasionan el daño de la membrana, y finalmente, la destrucción prematura de los eritrocitos. Hasta la actualidad se han descrito más de 150 hemogloginas inestables diferentes, la mayoría ocasionan hemólisis crónica, exacerbada por infecciones o la ingesta de medicamentos. Presentamos un caso clínico de hemoglobina inestable (hemoglobina Hammersmith) en una niña con anemia hemolítica grave, esplenomegalia y requerimiento transfusional.

Anemia in the newborn.

In neonatal period anemia is a complex problem owing to the unique blood picture. The erythrocytic system undergoes serial adaptation to meet progressively changing demands of oxygen in the embryo, the fetus and neonate. This leads to rapid change in normal hematological change in post-birth period. Definition of anemia is difficult because as described earlier, several important factors influence normal blood in the newborn infants. The etiology of neonatal anemia can be classified into i) hemorrhage (ii) hemolysis (iii) failure of red cell production. Severe fetal hemorrhage may accompany various placental anomalies like placenta praevia, abruptio placenta and accidental incision of placenta during the caesarian section. It is reported that 10% of all infants born following placenta praevia and 4% of infants born following abruptio placenta present with severe anemia. The passage of fetal erythrocytes in maternal circulation occurs commonly during pregnancy. In 50% of pregnancies some fetal cells are passed in maternal circulation sometimes during gestation or during birth process. Treatment of a neonate with anemia due to blood depends on the degree of hypovolemia or anemia and whether the blood loss has been acute or chronic. Newborn with pale skin should be differentiated from an asphyxiated baby.

Hemoglobin typing in cholangiocarcinoma.

Prevalence of thalassemias and/or hemoglobinopathies, particularly hemoglobin E, and cholangiocarcinoma were found more prominently in the lower part of the Northeast of Thailand as compared with the upper part of this region or any other area of the country. The aim of this study was to evaluate if there was coincident distribution or some relationship. Hemoglobin typing by the cellulose acetate method was performed in 111 cases of cholangiocarcinoma, mainly diagnosed by ultrasonography, compared with 146 normal controls. It was found that hemoglobin E trait and beta-thalassemia trait were significantly higher in the former group.

Neovascularizaçäo da retina em hemoglobinopatia SC e heorragia vítrea / Neovascularization of the retina in SC hemoglobinopathy and vitreous hemorrhage

Foram estudados 31 olhos com retinopatia proliferativa falciforme nos estágios III (9 olhos) e IV (22 olhos) de Goldberg em 20 pacientes com genótipo SC. A idade média foi de 31,7a (variaçäo: 19-55; DP:9,74). O total de 98 lesöes proliferativas, ou Sea Fan (SF) foram analisadas quanto ao tamanho, número por olho e extensäo circunferencial. Foi feita a correlaçäo destas duas últimas variáveis com a presença de hemorragia vítrea (HV). Dos 22 olhos no estágio IV, apenas 7 (31,81 por cento) apresentavam diminuiçäo de acuidade visual relacionada à HV. Dividindo-se o comprometimento circunferencial em intervalos de 15§, concluiu-se que houve correlaçäo entre este e a presença de HV (P=0,0476). A extensäo circunferencial de até 30§ ocorreu em 9,09 por cento dos olhos no estágio IV e em 44,45 por cento no III (P=0,0195). Dos 98 SFs, 31,63 por cento tinham 30§ ou menos de extensäo circunferencial e mais da metade (51,01 por cento) 45§ ou menos. Näo houve correlaçäo entre o ndmero de SFs e a presença de HV. Concluiu-se que olhos com extensäo circunferencial de SF maior que 30§ têm maior probabilidade de apresentar HV (estágio IV) e que os SFs säo, em sua maioria, lesöes pequenas de 7 a 8mm de extensäo

Concentraciones falsamente elevadas de hemoglobina glicosilada en 2 pacientes diabéticos con hemoglobina fetal persistente / Falsely high levels of glycosilated hemoglobin in 2 diabetic patients with persistent fetal hemoglobin

Two diabetic patients with unusual high levels of glycosilated hemoglobin measured by ion exchange chromatography are described. Further studies revealed a persistence of fetal hemoglobin in both cases. This condition produces falsely high levels of glycosilated hemoglobin, when ion exchange chromatography is used. These cases may be overtreated with risk of hypoglycemia. Patients with inappropiate levels of glycosilated hemoglobin should be investigated for hemoglobinopathies

Thrombotic risk of children with thalassemia.

Pulmonary microthromboembolism is one of the serious complications found in patients with thalassemia. The pathogenesis is undetermined. The thrombotic risk in 44 patients (26 males, 18 females) with beta-thalassemia/hemoglobin E disease and without clinical symptoms of thrombosis were studied. The age ranged from 3-19 yr (X +/- SD = 10 +/- 4). Neither of them had chronic hepatitis B infection. They were divided into three groups according to clinical manifestations as follows: (1) Mild form (n = 12). They did not require blood transfusion. The mean +/- SD of hematocrit was 23.3 per cent +/- 2.3; (2) Severe form (n = 19). They required frequent blood transfusion. The mean +/- SD of hematocrit was 17.7 per cent +/- 1.5; (3) Severe form with splenectomy (n = 13). They seldom required blood transfusion. The mean +/- SD of hematocrit was 21.8 per cent +/- 3.5. Most of the patients had delayed growth. They had high serum ferritin reflecting iron overload status which was prominent in the severe groups (group 2 & 3). The prothrombin time and serum albumin were slightly decreased, and the serum alanine transaminase were slightly increased; all of which reflected mild alteration of liver function. The plasma AT III, PC and PS antigen in the three groups were similar. The mean +/- SD of AT III antigen was 106.7 per cent +/- 22.2 which is normal. The mean +/- SD of PC antigen was 44.2 per cent +/- 14.2 and PS antigen level was 77.2 per cent +/- 17.8.(ABSTRACT TRUNCATED AT 250 WORDS)

Síndromes falcêmicas e úlcera duodenal / Sickle cell syndromes and duodenal ulcer

A importância da hemoglobina S como causa de úlcera duodenal é assunto ainda controvertido na literatura internacional e que nunca foi investigado no Brasil. Neste trabalho, a presença das síndromes falcêmicas foi investigada em amostra de 100 pacientes com diagnóstico clínico e endoscópico de úlcera duodenal atendidos no Hospital das Clínicas da Unicamp. Näo foi diagnosticado nenhum caso de anemia falciforme, hemoglobinopatia SC ou de S/betatalassemia e a proporçäo de portadores de traço falciforme na subamostra negróide (2/36 ou 5,5 por cento) nao diferiu significativamente da esperada ao acaso na populaçäo negróide de Campinas (6 por cento). Concluíram os autores que a hemoglobina S deve ter pequena importância relativa como causa de úlcera duodenal em nosso meio, o que näo exclui a possibilidade da investigaçäo dessa hemoglobina anômala ser de grande valia nos casos específicos de úlcera duodenal desacompanhada do aumento da secreçäo ácida do estômago.

Alteraciones cardiovasculares en el niño con hemoglobinopatia SS / Cardiovascular changes in the child with hemoglobinopathy SS

Se realizó un estudio del aparato cardiovascular en 30 niños con hemoglobinopatía SS de diferentes edades. Se encontraron alteraciones al examen físico en 19 enfermos (63,3 %), en el telecardiograma en 22 (73,3 %) y en el electrocardiograma en 14 (46,6 %). Los hallazgos más frecuentes fueron soplos sitólicos de baja intensidad, cardiomegalia en el estudio radiológico y signos de sobrecarga diastólica del ventrículo izquierdo e hipertrofia ventricular izquierda en el electrocardiograma. En el ecocardiograma se encontró aumento de los volúmenes sistólico y diastólico que también aumentaron con la edad y del índice cardíaco, así como diferencias significativas en la distancia ES y de la velocidad media de acortamiento circunferencial de la fibra miocárdica en relación con el grupo control. No hubo evidencias de miocardiopatía segmentaria ni alteraciones de los patrones en colores. Nueve pacientes (30 %) presentaron alteraciones cardiovasculares ligeras, 18 (60 %) alteraciones moderadas y 3 (10 %) alteraciones graves (disfunción ventricular). Todas las manifestaciones aumentaron con la edad, aunque en muchas, las diferencias no fueron estadísticamente significativas. No se encontró relación entre las lesiones cardíacas y las cifras de hemoglobina, reticulocitos y hemoglobina fetal

Crecimiento y desarrollo en las hemoglobinopatias S / Growth and development in hemoglobinopathy S

Se estudiaron 110 niños de uno y otro sexo con diagnóstico de hemoglobinopatía S (74 SS, 19 SC y 17 S ß talasemia), con edades entre 0,4 y 17 años, atendidos en el Instituto de Hematología e Inmunología. En todos los niños se obtuvieron los siguientes datos: edad de la madre en el momento del parto, edad gestacional y peso del niño al nacer, determinación del peso, de la talla y de la maduración ósea, los que se compararon con los patrones nacionales de crecimiento y desarrollo. No se encontraron diferencias significativas en la edad gestacional y peso al nacer entre sexos ni hemoglobinopatías. No hubo diferencias en el peso, la talla ni la maduración ósea, al compararlos con los patrones nacionales. No se hallaron diferencias significativas en el peso, la talla ni la maduración ósea entre sexos ni hemoglobinopatías

Pulmonary thromboembolism in thalassemic patients.

Chronic pulmonary thromboembolism plays an important role in cardiac failure which is a major cause of death in thalassemic patients over 20 years of age. This report is a study of autopsy lung tissue from 58 patients with beta-thalassemia/hemoglobin E disease (beta-thal/HbE), including whole lungs from five, 13 patients with hemoglobin H disease (HbH), and eight patients with beta-thalassemia major (beta-thal) including whole lung from one. Pulmonary thromboembolic lesions were found in 24 of 58 (41%) patients with beta-thal/HbE, of which 21 of 39 (54%) were splenectomized patients and 3 of 19 (16%) were nonsplenectomized patients, with the incidence increasing with age. Lung maps showed the greatest number of lesions in the lingula, right middle lobe, and anterior segments of both upper lobes. Pulmonary thromboembolic lesions were also found in one of 13 HbH patients and one of 8 beta-thal patients, both splenectomized. Eight of the 27 patients with these lesions had right ventricular and 14 biventricular hypertrophy, reflecting the deleterious effect of such lesions. Possible causative factors are discussed.

Pulmonary microthromboemboli in thalassemic cases.

Lung specimens obtained from wet materials were reviewed for detection of microthrombi. Multiple microthrombi, which were composed mainly of platelets, were seen in the pulmonary arteriole and microcirculation in two autopsy cases with splenectomized thalassemic disease. These findings provide a rational explanation for the increased spontaneous platelet aggregation in the whole blood, and may be an additional factor to the progress of pulmonary dysfunction and hypoxemia seen in splenectomized thalassemic patients.

Liver tissue injury secondary to iron overload in beta-thalassemia/hemoglobin E disease.

Liver tissues from 17 patients with advanced stages of beta-thal/Hb E disease were examined by light and electron microscopy, with emphasis on cellular damage due to excess iron overload. Various histochemical stains were performed to grade degrees of iron deposition and fibrosis, and to demonstrate hepatitis B surface antigen, in Kupffer cells as well as macrophages. The results of light and electron microscopic studies were correlated. There was a variation in the distribution of hepatic iron and the severity of fibrosis. In most of the cases ballooning degeneration of the hepatocytes, increase in number of lysosomes, hemosiderin and ferritin in hepatocytes as well as in the sinusoidal lining cells were found. The ferro-acidophilic body, representing another important form of hepatocellular necrosis also occurred. So far no precise mechanisms can be concluded.

Erythrocyte glucose-6-phosphate dehydrogenase and pyruvate kinase activities in hemoglobin H disease.

Erythrocyte glucose-6-phosphate dehydrogenase (G6PD) and pyruvate kinase (PK) activities were studied in hemoglobin H (HbH) patients by spectrophotometric method, cytochemical method and the methemoglobin reduction (MR) test for the detection of heterozygous G6PD deficiency. G6PD deficiency was found in 7 of 64 cases (10.9%), including 3 cases of genotype alpha 1/alpha 2 and 4 cases of genotype alpha 1/CS. None of the HbH patients was found to be PK-deficient. Spectrophotometrically determined G6PD and PK activities were significantly higher in HbH patients than in normals (p less than 0.001), whereas the MR test yielded a significantly lower percentage of residual methemoglobin in HbH patients than in normals (p less than 0.05). All three methods were efficient in the detection of hemizygous G6PD deficiency in HbH patients, but not in G6PD-deficient females.

Pathogenesis of hypoxemia.

Thrombocytosis and morphological changes in shape and size of circulating platelets are commonly found in splenectomized thalassemia patients. Functional abnormalities of the platelets are evidently related to their fragile nature. Spontaneous aggregation of platelets can easily occur following application of mild pressure either from a stirring magnetic bar or due to centrifugal force. Platelets are hyper-reactive to chemical stimulation and the release of platelet granule contents (eg ATP) together with other membranous lipid metabolites, thromboxane A2 and malondialdehyde is markedly enhanced. The lipid soluble antioxidant, vitamin E is depleted from various blood compartments. The findings suggest that circulating platelets in splenectomized thalassemia are continuously attacked by yet to be identified blood borne factor(s) and the defective platelets could play a pivotal role in the pathogenesis of hypoxemia.

Spontaneous platelet aggregation in thalassemic children and adolescents.

Spontaneous platelet aggregation was studied in 51 children and adolescents, comprising 30 nonsplenectomized thalassemic patients, 12 splenectomized thalassemic patients and 9 normal children. Spontaneous platelet aggregation was significantly increased in whole blood and platelet-rich plasma of splenectomized thalassemic patients but not in nonsplenectomized cases.

Brain pathology in 6 fatal cases of post-transfusion hypertension, convulsion and cerebral hemorrhage syndrome.

Six fatal cases of post-transfusion hypertension, convulsions and cerebral hemorrhage syndrome were found in a series of 76 autopsies of thalassemic patients. Five of these cases were hypertensive. At autopsy the brains were all markedly edematous and congested. Visible cerebral hemorrhages were found in 3 patients. Microscopically all cases showed small focal or perivascular hemorrhages and 1 patient had extensive arterial type hemorrhage. Microdissecting aneurysms characteristic of hypertensive cerebral hemorrhage were found in two. No underlying vascular disease was found in these 6 patients. A correlation was attempted between possible causes of post-transfusion hypertension and convulsions and anatomical findings.

Increase in spontaneous platelet aggregation in beta-thalassemia/hemoglobin E disease: a consequence of splenectomy.

Clinical symptoms related with disturbances of the circulatory system are often observed in beta-thalassemia/hemoglobin E (beta-thal/HbE) patients after splenectomy. Pulmonary thrombosis is one of the important contributing factors. However, the pathogenesis of this phenomenon was not known. Previous studies on platelet functions were controversial as platelet-rich plasma (PRP) was employed for all of the studies. By centrifugation, most of the hyperactive platelets were excluded before platelet aggregation tests were performed. Besides, the role of red cells related to platelet aggregation was not investigated. In this study, a platelet function test was designed to avoid these two handicaps of previous work as mentioned, by using whole blood from 15 normal and 40 beta-thal/HbE patients (15 nonsplenectomized and 25 splenectomized) to study spontaneous platelet aggregation. The principle of the test was to evaluate platelet number in whole blood by electronic platelet counter at time 0 (45 minutes after blood collection) and this number was used as 100% of free unaggregated platelets. Then the same specimen of whole blood was incubated at 37 degrees C with continuous stirring by magnetic stirrer in an aggregometer for 8 minutes; at 1 minute intervals free unaggregated platelets were evaluated and calculated as a percentage of the initial control value. The results indicated increased spontaneous platelet aggregation in whole blood of post-splenectomized beta-thal/HbE patients. The residual free platelet number were 24% at 8 minutes after incubation. Effects of red blood cells on spontaneous platelet aggregation were studied by mixing autologous beta-thal/HbE red cells obtained from splenectomized and non-splenectomized patients with platelet rich plasma.(ABSTRACT TRUNCATED AT 250 WORDS)