Hemoglobin S identification in blood donors: A cross section of prevalence

ABSTRACT Introduction: In Brazil, the sickle cell trait (SCT) has an average prevalence of 4% in the general population and 6-10% among Afro-descendants. Although SCT is highly prevalent, a large segment of the population ignores their status. The Therapeutic Guidelines prohibit the transfusion of SCT red blood cells into patients with hemoglobin disorders or severe acidosis and newborns. Methods: This was a cross-sectional study with data from 37,310 blood donation candidates. The study included only eligible first-time donors qualified to be tested for the presence of hemoglobin S (HbS) at the Fundação Hemominas Juiz de Fora, Brazil. The variables studied were gender, skin color, age, type of donation, place of birth, blood type, result of the solubility test for hemoglobin S (HbST) and hemoglobin electrophoresis (HbEF). Statistical analysis was performed using the Q square test and the Kappa index of agreement for comparing biochemical methods. This project was approved by the National Research Ethics Committee. Results: The analysis of first-time donor data showed that 7166 were considered eligible. A total of 127 of the 7166 donors were carriers of SCT (1.77%). Among the blood donors, 73.23% were from the local area. The HbST and HbEF were found to be 100% in concordance. Sensitivity was not tested in the present study. Conclusions: The HbST is highly specific for identifying the HbS, but sensitivity was not tested in this study. The screening of blood donors for abnormal hemoglobins is useful, helping to detect and counsel heterozygous people. The study seeks to identify the prevalence of SCT in a region of Brazil.

Ácido úrico en las gestantes con diagnóstico de drepanocitosis y preeclampsia / Uric acid in pregnant women diagnosed with sickle cell disease and preeclampsia

RESUMEN Introducción: El ácido úrico es el producto final del ciclo de las purinas y es fundamental como marcador de enfermedad renal, la gota y la preeclampsia. Este biomarcador ejerce efectos potenciales en la placenta y el feto de la gestante con drepanocitosis. Objetivo: Describir los efectos potenciales que produce el ácido úrico en las gestantes con drepanocitosis. Métodos: Se revisó literatura en inglés y en español, a través del sitio web PubMed y el motor de búsqueda Google académico, en artículos publicados en los últimos cinco años. Se utilizaron como términos de búsqueda: preeclampsia, ácido úrico y riesgos en las embarazadas con drepanocitosis. Se analizaron los aspectos más relevantes del tema en la bibliografía revisada. Análisis y síntesis de la información: El incremento del ácido úrico añadido a la vasoclusión, la hipoxia y la necrosis tisular a nivel de la placenta son mecanismos invocados en el desarrollo de la preeclampsia y los índices de partos prematuros que presentan. Es de destacar que no tiene una trayectoria uniforme en todas las pacientes, sobre todo se observa una mejor evolución (con menor presencia de estas complicaciones) en aquellas pacientes que muestran genotipo, niveles de hemoglobina fetal y haplotipo de la hemoglobina S más favorable. Conclusiones: El ácido úrico constituye un biomarcador útil y de alarma en el diagnóstico de la preeclampsia, una de las peores complicaciones tanto para la vida materna como para su descendencia, al ser la gestante con drepanocitosis una paciente de muy alto riesgo de parto pretérmino, prematuridad, bajo peso al nacer, nacidos muertos e infarto placentario.

ABSTRACT Introduction: Uric acid is the end product of the purine cycle and is essential as a marker of kidney disease, gout and pre-eclampsia. This biomarker has potential effects on the placenta and fetus of a pregnant woman with sickle cell disease. Objective: To describe the potential effects of uric acid in pregnant women with sickle cell disease. Methods: Literature in English and Spanish was reviewed, through the PubMed website and the academic search engine Google, in articles published in the last five years. The search terms were: pre-eclampsia, uric acid and risks in pregnant women with sickle cell disease. The most relevant aspects of the subject were analyzed in the reviewed bibliography. Analysis and synthesis of information: The increase in uric acid added to vasoocclusion, hypoxia and tissue necrosis at the level of the placenta are mechanisms invoked in the development of pre-eclampsia and the rates of premature births they present. It is noteworthy that it does not have a uniform trajectory in all patients, especially a better evolution is observed, with less presence of these complications in those patients who show a more favorable genotype, fetal hemoglobin levels and hemoglobin S haplotype. Conclusions: Uric acid constitutes a useful and alarm biomarker in the diagnosis of pre-eclampsia, one of the worst complications both for maternal life and for her offspring, as the pregnant woman with sickle cell disease is a patient at a very high risk of preterm delivery. prematurity, low birth weight, stillbirths and placental infarction.

Profilage phytochimique par chromatographie sur couche mince haute performance d'extraits de flavonoïdes totaux du Drepanoalpha® et évaluation de leur activité anti-drépanocytaire in vitro / In vitro evaluation of anti-sickling activity of crude flavonoid extracted from Drepanoalpha® and their phytochemical profiling by high performance thin layer chromatography

Contexte et objectif. Le défi le plus important dans la drépanocytose consiste à améliorer l'état de santé des patients dans les pays en développement. L'une des meilleures solutions est donc le développement de la phytomédecine basée sur la connaissance de la pharmacopée traditionnelle. L'objectif de la présente étude était d'évaluer les activités anti-drépanocytaires des flavonoïdes totaux extraits du phytomédicament Drépanoalpha® d'une part et déterminer leur profilage chimique par chromatographie sur couche mince haute performance d'autre part. Méthodes. Les flavonoïdes totaux ont été obtenus par fractionnement de l'extrait méthanolique par chromatographie flash (PURIFLASH COLUMN 30 SILICA HP - 12,0 g) et purifies à l'aide d'une cartouche (Polymeric Reversed Phase) puis caractérisés et dosés par chromatographie sur couche mince haute performance (CCMHP). L'activité anti-drépanocytaire a été mise en évidence grâce aux tests d'Emmel, de polymérisation, de rapport Fe2+/Fe3+, d'hémolyse et de la fragilité osmotique membranaire. Résultats. La poudre du Drépanoalpha® contenait une quantité de flavonoïdes totaux de 8,14 mg équivalent de quercétine/g d'extrait. Les flavonoïdes totaux extraits du Drépanoalpha® possèdent une activité antifalcémiante (avec le taux maximal de normalisation d'environ 90 % et une concentration minimale de normalisations de 11,4 µg/mL), un taux d'augmentation du rapport Fe2+/Fe3+ de 97,0 %, une activité anti-hémolytique avec une fragilité corpusculaire membranaire des érythrocytes (FCM) de 0,73 et un taux d'inhibition de la polymérisation de 77,5%. Conclusion. La pertinence des résultats de cette étude permet de confirmer les flavonoids comme phytomarqueur pour le contrôle de qualité et de standardisation de cet alicament.

Análise do perfil de doadores de sangue positivos para hemoglobina S em hemocentro do estado do Rio Grande do Sul / Profile assessment of blood donors with sickle cell trait in a public blood bank in Southern Brazil

Introdução: Portadores do traço falciforme podem doar sangue, porém requerem maior atenção ao direcionamento da sua transfusão. Considerando o perfil étnico- racial da região sul do Brasil, o presente artigo teve como objetivo analisar o perfil e a prevalência de Hemoglobina S em um hemocentro público de Porto Alegre. Métodos: Estudo transversal retrospectivo realizado através de uma pesquisa em banco de dados cadastrais e de resultados de testes imunológicos no período de janeiro de 2015 a dezembro de 2019. Resultados: Foram obtidos um total de 8.2363 registros cadastrais e 6.7184 testes imunológicos. Dos testes, 467 foram positivos para Hemoglobina S de 134 doadores distintos. O percentual de Hb S positiva apresentou uma média de 0,7% anual entre todos os doadores. Entre doadores autodeclarados "Negros" a prevalência é de 0,92% e "Caucasianos" é de 0,13%. Conclusão: Os dados corroboram com a literatura, porém o espectro social que abrange as denominações "Caucasiano Brasileiro" e "Mestiço" permanecem em questionamento dentro da relevância do marcador étnico da Hemoglobina S no Rio Grande do Sul. (AU)

Introduction: People with sickle cell trait can donate blood, but special attention should be paid to the transfusion recipient. Considering the ethnic-racial profile of Southern Brazil, this article aimed to analyze the profile and prevalence of hemoglobin S in a public blood bank in Porto Alegre. Methods: A quantitative, retrospective, and cross-sectional study was conducted to assess the profile of blood donors positively screened for hemoglobin S from January 2015 to December 2019 in a public blood bank in Southern Brazil. Results: A total of 82,363 records and 67,184 immunohematological tests were obtained. Regarding the tests, 467 were positive for hemoglobin S among 134 different donors. The percentage of positive hemoglobin S has remained stable over the years, with an annual average of 0.7%. The prevalence of self-reported "black" and "Brazilian Caucasian" blood donors was 0.92% and 0.13%, respectively. Conclusions: The data are in accordance with the literature; however, the social spectrum that comprises the terms "Brazilian Caucasian" and "mixed-race" remains in question regarding the relevance of the ethnic marker of hemoglobin S in Southern Brazil. (AU)

Recambio por aféresis de glóbulos rojos. Primer registro de un hospital pediátrico en Quito-Ecuador / Red blood cell exchange. First report in a pediatric Hospital in Quito-Ecuador

Introducción: La anemia falciforme es la hemoglobinopatía estructural más frecuente en todo el mundo y es causada por la producción de hemoglobina S (HbS) a consecuencia de una mutación puntual en el gen de la beta globina.Objetivo: Mostrar los beneficios del recambio de glóbulos rojos por aféresis en la presentación del síndrome torácico agu-do, causado por la anemia drepanocítica.Presentación del caso: Se describe el manejo de una paciente de trece años de edad, con anemia drepanocítica que, al momento de su ingreso al hospital, presentó crisis vaso- oclusiva secundaria a su patología de base. Al segundo día presen-tó síndrome de tórax agudo, por lo que se solicitó al Servicio de Medicina Transfusional, el recambio eritrocitario. Analizado el caso, se realizó el cálculo de la volemia total de la paciente, se prepararon concentrados de glóbulos rojos (CGRs) com-patibles con la paciente: se filtraron; y se les cuantificó el hematocrito. El procedimiento se realizó con el equipo de aféresis COM.TEC. en el que se recambió 1.200 mililitros de eritrocitos totales. Discusión: El recambio eritrocitario por aféresis aportó una notable y visible mejoría clínica y laboratorial. Por lo que en nuestra experiencia consideramos que el procedimiento fue eficiente. Conclusiones: El recambio de eritrocitos por aféresis en el síndrome torácico agudo en crisis drepanocítica es un procedi-miento que se puede utilizar en pacientes que no responden a otras terapias por su mínima alteración de la viscosidad y volumen sanguíneo en el paciente, y disminuir la concentración de hemoglobina S.

Introduction: Sickle-cell anemia is the most common structural hemoglobinopathy worldwide and is caused by the pro-duction of hemoglobin S (HbS) as a result of a point mutation in the beta globin gene.Objective: Show the benefits of red blood cell replacement by apheresis in the presentation of acute chest syndrome, cau-sed by sickle-cell anemia.Case Presentation: We describe the management of a thirteen-year-old patient with sickle-cell anemia, who presented, at admission to the hospital, an occlusive vessel crisis, secondary to her underlying pathology. On the second day of admission, she presented acute chest syndrome. Erythrocyte replacement was requested to the hospital blood service. After analyzing the case, the total blood volume of the patient was calculated, red blood cell concentrates (RBCs) compatible with the pa-tient were prepared, all RBCs were filtered, and the hematocrit was quantified in all RBCs. The procedure was performed with the apheresis equipment COM.TEC. in which a total of 1,200 milliliters of erythrocytes was replaced. Discussion: The erythrocyte replacement by apheresis contributed a remarkable and visible clinical and laboratory impro-vement. In our view, we consider that the procedure was efficient.Conclusions: The replacement of erythrocytes by apheresis in the acute thoracic syndrome in sickle cell crisis is a procedure that may be used in patients who do not respond to other therapies, benefiting from minimal alteration of the viscosity and blood volume in the patient, as well as concomitant decrease of hemoglobin S concentration.

Spatial distribution of newborns with sickle cell trait in sergipe, brazil / Distribuição espacial de recém-nascidos com traço falciforme em sergipe

ABSTRACT Objective: To use the spatial distribution of the sickle cell trait (SCT) to analyze the frequency of hemoglobin S (HbS) carriers in Sergipe. Methods: The sample consisted of all individuals born in Sergipe from October 2011 to October 2012 who underwent neonatal screening in the public health system. Tests were carried out in basic health units and forwarded to the University Hospital laboratory, where they were analyzed. We used spatial autocorrelation (Moran's index) to assess the spatial distribution of heterozygous individuals with hemoglobinopathies. Results: Among 32,906 newborns, 1,202 showed other types of hemoglobin besides Hemoglobin A. We found a positive correlation between the percentage of black and multiracial people and the incidence of SCT. Most SCT cases occurred in the cities of Aracaju (n=273; 22.7%), Nossa Senhora do Socorro (n=102; 8.4%), São Cristóvão (n=58; 4.8%), Itabaiana (n=39; 4.2%), Lagarto (n=37; 4.01%), and Estância (n=46; 4.9%). Conclusions: The spatial distribution analysis identified regions in the state with a high frequency of HbS carriers. This information is important health care planning. This method can be applied to detect other places that need health units to guide and care for sickle cell disease patients and their families.

RESUMO Objetivo: Basear-se na distribuição espacial do traço falciforme (TF) para analisar a frequência dos portadores da hemoglobina S (HbS) em Sergipe. Métodos: A amostra foi constituída por todos os indivíduos nascidos em Sergipe, no período de outubro de 2011 a outubro de 2012, submetidos à triagem neonatal pelo Sistema Único de Saúde, ano de início da triagem universal no Estado. Os testes foram realizados em unidades básicas de saúde e encaminhados para o laboratório do Hospital Universitário, onde foram analisados. A análise da distribuição espacial dos indivíduos heterozigotos para hemoglobinopatias foi realizada por autocorrelação espacial (índice de Moran). Resultados: Dentre os 32.906 recém-nascidos estudados, 1.202 apresentaram outras hemoglobinas além da Hemoglobina A. Houve correlação positiva entre a porcentagem de negros e mestiços e a incidência de TF. A maioria dos casos foi encontrada nos municípios de Aracaju (n=273; 22,7%), Nossa Senhora do Socorro (n=102; 8,4%), São Cristóvão (n=58; 4,8%), Itabaiana (n=39; 4,2%), Lagarto (n=37; 4,01%) e Estância (n=46; 4,9%). Conclusões: Na análise de distribuição espacial por autocorrelação, identificaram-se regiões no Estado com maior frequência de HbS, o que é de extrema importância para o planejamento do sistema de saúde, podendo a mesma metodologia ser aplicada para identificação de outros locais com maior necessidade de centros para cuidados e orientações a portadores de doença falciforme e seus familiares.

Endocrine and growth disorders in children with haemoglobin-ss

BACKGROUND Suboptimal growth and certain metabolic disorders are commonly presented by children with Sickle Cell Disease (SCD). SCD is an autosomal recessive genetic condition common in regions with intense malaria prevalence. The cycles of de-oxygenation and oxygenation of red blood cells producing repeated sickling and unsickling, leading to red cell damage is a concern. There was need to establish the cause of common triggers for Vaso-Occlusive crises which include dehydration, infections, extreme temperature and emotional stress. Recurrent painful episodes, several physical and biochemical disorders including suboptimal growth, low immunity, anemia and a variety of serious organ system complications that cause life-long disabilities and/or early death in HbSS patients was a challenge. The highest frequencies (3 to 4% of populations) of Homozygous Sickle Cell disease occur in Sub-Saharan Africa. METHODOLOGY Twenty eight children aged 4-10 years with Hemoglobin-SS (HbSS) and Vaso-Occlusive crisis attending Children Emergency Clinic at Ladoke Akintola University of Technology Teaching Hospital and another 30 healthy sex and age matched children with HbAA (controls) participated in this study. Plasma levels of Growth Hormone(GH), cortisol, prolactin, Total Thyroxin(TT4), Total Triiodotyronine(TT3), Thyroid Stimulating Hormone(TSH) and insulin were determined in all respondents using enzyme linked immunosorbent assay methods. RESULTS The weight, height and BMI decreased significantly (p<0.05) in HbSS children compared with the controls. Plasma levels of GH, cortisol, TT3 and TT4 increased significantly (p<0.05) in HbSS-children compared with controls. Plasma levels of prolactin, TSH and insulin did not show significant (p>0.05) changes in the HbSS children compared with the controls. There was a significant (r=0.46, p=0.04) positive correlation between cortisol and GH in the children with HbSS. A negative correlation (r=-0.45, p=0.045) existed between TT4 and weight of HbSSchildren. CONCLUSION The lower levels of height, weight and BMI despite increased plasma level of GH could suggest peripheral tissue resistance and/or GH-receptor deficiency in HbSS children. Elevated cortisol levels and the positive correlation between cortisol and GH could suggest a link between metabolic stress and GH secretion in HbSS Children

Herencia conjunta de α+-talasemia y portador de hemoglobina S / Co-inheritance of α+-thalassemia and sickle trait

Resumen En este reporte de caso se describe el primer paciente doble heterocigoto para alfa+-talasemia tipo -3,7 y rasgo heterocigoto por hemoglobina S en Costa Rica, diagnosticado desde su nacimiento por medio del tamizaje neonatal como heterocigoto para hemoglobina S. Luego de la detección de la hemoglobina S por tamizaje, el paciente fue referido al servicio de Hematología del Hospital Nacional de Niños para su seguimiento, en donde se observa hemograma con índices y morfología de glóbulos rojos sugestivos de alfa talasemia, con presentación de electroforesis de hemoglobina con patrón AS cuya expresión relativa de HbS era menor de lo esperado, lo que motivó a efectuar estudio molecular del gen de alfa globina, que confirmó el diagnóstico de alfa talasemia con deleción heterocigota de tipo -3,7 en herencia conjunta con la heterocigosis de hemoglobina S.

Abstract In this case report we describe the first patient compound heterozygous for type -3.7 alpha+ thalassemia and sickle cell trait in Costa Rica, who was diagnosed from birth by neonatal screening as heterozygous for hemoglobin S. After detection of hemoglobin S by screening, the patient was referred to the Hematology service of the National Children`s Hospital for follow-up, where hemogram with indexes and morphology of red blood cells suggestive of alpha thalassemia is observed, presenting hemoglobin electrophoresis with AS pattern whose relative expression of hemoglobin S was lower tan expected, which led to a molecular study of the alpha globin gene confirming the diagnosis of alpha thalassemia with heretozygous deletion of type -3.7, in co-inheritance with hemoglobin S heterozygosis.

Biochemical effects and safety of Gum arabic (Acacia Senegal) supplementation in patients with sickle cell anemia

BACKGROUND: Sickle cell anemia (SCA) is a hereditary chronic hemolytic anemia with several clinical consequences. Intravascular sickling of red blood cells leads to multi-organ dysfunction. Moreover, several biochemical abnormalities have been associated with SCA. Gum arabic (GA) is an edible dried gummy exudate obtained from Acacia Senegal tree. GA showed antioxidant and cytoprotective activities and demonstrated protection against hepatic, renal, and cardiac toxicities in experimental rats. We hypothesized that regular intake of GA improves renal and liver functions in patients with SCA. METHODS: Forty-seven patients (5–42 yr) carrying hemoglobin SS were recruited. The patients received 30 g/day GA for 12 weeks. Blood samples were collected before administering GA and then after 4, 8, and 12 weeks. Liver enzymes, total protein, albumin, electrolytes, urea, creatinine, and uric acid were determined in the serum. The study was approved by the Al Neelain University Institutional Review Board and Research Ethics Committee Ministry of Health. The trial was registered at ClinicalTrials.gov (identifier: NCT02467257). RESULTS: GA significantly decreased direct bilirubin level [statistical significance (P-value)=0.04]. It also significantly decreased serum alanine transaminase level after 4 weeks, which was sustained till the 8th week. GA, however, had no effect on serum aspartate transaminase level. In terms of renal function, GA decreased serum urea level but the effect was not sustained after the first month. CONCLUSION: GA may alter the disease severity in SCA as demonstrated by its ability to decrease direct bilirubin and urea levels in the serum.

Malaria y hemoglobina S: ¿resistencia o protección? / Malaria and hemoglobin S: resistance or protection?

La malaria (o paludismo) es una enfermedad infecciosa causada por parásitos de la familia Plasmodium y transmitída por los mosquitos Anopheles hembra. En el año 2015, se calcula que hubo 212 millones de nuevos casos de paludismo y 429 000 muertes. La región africana sigue soportando la mayor carga de paludismo, con un estimado del 90 % de los casos y el 92 % de las muertes por esta enfermedad. Muchos años han transcurridos desde los primeros reportes que relacionaban el desorden genético caracterizado por la presencia de hemoglobina S y la infestación por malaria, presumiendo que existía una resistencia al desarrollo de esta infestación y al daño que esta causaba; lo controvertido en aquellos momentos de estos planteamientos justificó las múltiples investigaciones realizadas a posteriori; los resultados obtenidos por los descubrimientos más actuales han propiciado una visión más clara de esta relación y nuevas motivaciones encaminadas a profundizar en el estudio de esta temática. El objetivo de este trabajo es precisamente analizar la relación antes mencionada a la luz de los estudios contemporáneos

Malaria is an infectious disease caused by parasites of the Plasmodium family and transmitted by the female Anopheles mosquitoes. In the year 2015, it ias calculated that there were 212 million new cases and 420 000 deaths. The African region continues bearing the greatest number of cases with an estimate of 90% and the 92% of deaths due to this disease. Many years have passed since the first reports which related the genetic disorder characterized by the presence of hemoglobin S and malaria infection, presuming that there was a resistance to the development of this of infection and it resulting damage. What was controversial about this statement at those times supported the multiple posterior research. The most recent discoveries have allowed a clearer vision of this relationship and new motivations aimed at deepening in the study of this topic. The objective of this work is precisely to analyze the mentioned relationship according to the most recent studies.

Recentes avanços no tratamento da anemia falciforme / Recent advances in the sickle cell anemia treatment

A anemia falciforme é a doença monogênica de maior ocorrência mundial e é causada pela presença de hemoglobina S (HbS), uma variante estrutural decorrente da substituição de um aminoácido na cadeia ß globina. Essa mutação altera as propriedades bioquímicas e fisiológicas da hemoglobina, que tem a tendência de formar agregados fibrilares, no estado desoxigenado, o que produz alterações morfológicas (falcização) e funcionais da hemácia. Assim, todas as manifestações clínicas observadas na doença decorrem da presença da HbS e têm início com a hemólise e a vaso-oclusão, desencadeando os demais eventos da doença, que podem afetar os órgãos e sistemas orgânicos. O tratamento baseia-se no controle dos sintomas. O único medicamento aprovado que altera o curso da doença é o antineoplásico hidroxiureia e, apesar de seu sucesso clínico, não é curativo e pode desencadear muitos efeitos adversos. O único tratamento curativo é o transplante de células tronco hematopoéticas. A terapia gênica vem sendo estudada há mais de 30 anos e alguns estudos clínicos estão sendo realizados. Novas abordagens moleculares como a edição do genoma, uso de RNA terapêutico e manipulação genética para indução da síntese de hemoglobina fetal emergem como possibilidades para a cura da doença. (AU)

Sickle cell anemia is the most common monogenic disease worldwide and it is caused by the presence of sickle hemoglobin (HbS), structural variant hemoglobin with one amino acid substitution in the ß globin chain. This mutation changes the biochemical and physiological properties of hemoglobin, which has the tendency, in the de-oxygenated state, to form fibrous aggregates, which produces morphological (sickling) and functional changes in red blood cells. Thus, all the observed disease clinical manifestations arise from the presence of HbS and begin with hemolysis of the red blood cell and vaso-occlusion, triggering other disease events, which can affect the body organs and systems as a whole. Nowadays, treatment is based mainly in symptoms control. The only drug approved that changes the course of the disease is the antineoplastic Hydroxyurea and, despite its clinical success, it is not curative and can trigger many adverse effects. The only curative treatment is the hematopoietic stem cells transplantation. Gene therapy has been studied for more than 30 years and some clinical studies are being in course. New molecular approaches as the genome editing, therapeutic RNA and genetic manipulation to stimulate fetal hemoglobin synthesis emerge as possible curative options for the disease. (AU)

Effective sickle hemoglobin reduction by automated red cell exchange using Spectra Optia in three Emirati patients with sickle cell disease before allogeneic hematopoietic stem cell transplantation

No abstract available.

Anemia de células falciformes en pediatría: Revisión de la literatura / Sickle Cell Anemia in Pediatrics: Literature review / Anemia falciforme em pediatria: Revisão da literatura

Introducción: La anemia falciforme es una hemoglobinopatía estructural de origen genético, se caracteriza por la presencia de hemoglobina falciforme. La hemoglobina anormal es inestable, tiende a polimerizarse y puede ocluir la microcirculación, produciendo manifestaciones multisistémicas tanto agudas como crónicas relacionándose con mayor riesgo de contraer infecciones. Objetivo: Describir la información del tema expuesto resaltando los aspectos más relevantes como diagnóstico y tratamiento. Metodología: Se efectuó una revisión bibliográfica con búsqueda electrónica en las siguientes bases de datos: PubMed, MEDLINE, Medscape, Scopus; y se incluyó diferentes tipos de artículo (artículos originales, revisiones de temas y guías de manejo) que abordaran la anemia de células falciformes en pediatría. Resultados: Se obtuvo una revisión de 22 artículos, donde se describe el tema de anemia de células falciformes, pautas y tratamientos basados en el manejo y control de los síntomas; se evidencia que el uso de ecografía doppler transcraneal y las transfusiones demostraron ser estrategias preventivas o de tratamiento eficaces para las complicaciones relacionadas con esta patología en los niños. Conclusiones: En Colombia, la prevalencia de la patología no se encuentra establecida. Por otra parte, las principales manifestaciones se relacionan con complicaciones de vaso-oclusión en los diferentes órganos y la asplenia funcional, la cual predispone a cuadros infecciosos.[Tirado-Pérez IS, Zárate Vergara AC. Anemia de células falciformes en pediatría: Revisión de la literatura. Revisión de tema. MedUNAB 2017-2018; 20(3): 374-382].

Introduction: Sickle cell anemia is a structural hemoglobinopathy of genetic origin, characterized by the presence of sickle hemoglobin. Abnormal hemoglobin is unstable and tends to polymerize and can occlude the microcirculation. Also, it produces both acute and chronic multi system manifestations associated with an increased risk of infection. Objective: To describe the information of the exposed topic highlighting the most relevant aspects such as diagnosis and treatment. Methodology: A literature review with electronic search was carried out in the following databases: PubMed, MEDLINE, Medscape, Scopus; different types of articles were included that addressed sickle cell anemia in pediatrics such as original articles, reviews of topics and management. Results:Areview of 22 articles was obtained which describes the subject of sickle cell anemia, guidelines and treatments based on the management and control of symptoms. It is evident that the use of transcranial Doppler ultrasound and transfusions proved to be preventive strategies or effective treatments for the complications related to this pathology in children. Conclusions: In Colombia, the prevalence of the pathology is not established yet. On the other hand, the main manifestations are related to complications of vaso-occlusion in different organs and functional asplenia which predisposes to infectious conditions. [Tirado-Pérez IS, Zárate Vergara AC. Sickle Cell Anemia in Pediatrics: Literature review. MedUNAB 2017-2018; 20(3): 374-382].

Introdução: A anemia falciforme é uma hemoglobinopatia estrutural de origem genética, caracterizada pela presença de hemoglobina falciforme. A hemoglobina anormal é instável, tende a polimerizar-se e pode ocluir a microcirculação, produzindo manifestações multissistêmicas agudas e crônicas, associadas ao risco enorme das infecção graves. Objetivo: Descreva a informação do assunto exposto, destacando os aspectos mais relevantes, como o diagnóstico e seu tratamento. Metodologia: Foi realizada uma pesquisa eletrônica para a revisão bibliográfica, nos seguintes bancos de dados: PubMed, MEDLINE, Medscape, Scopus; incluindo outros tipos de artigos (artigos originais, revisões de tópicos e guias de gerenciamento), que abordam anemia falciforme em pediatria. Resultados: Foi obtida uma revisão de 22 artigos, que descreve o assunto da anemia falciforme, diretrizes e orientações baseados no tratamento e controle dos síntomas. É evidente que a identificação da doença com o uso de ultrasom Doppler transcraniana e das transfusões são estratégias preventivas ou de tratamentos eficazes para as complicações relacionadas com esta patologia nas crianças. Conclusões: Na Colômbia, a prevalência da patologia não está estabelecida. Por outro lado, as principais manifestações estão relacionadas a complicações de vaso-oclusão em diferentes órgãos e asplenia funcional, que predispõe a condições infecciosas. [Tirado-Pérez IS, Zárate Vergara AC. Anemia falciforme em pediatria: Revisão da literatura. MedUNAB 2017-2018; 20(3): 374-382].

Sickle cell retinopathy: A literature review / Retinopatia da doença falciforme: revisão da literatura

Summary Hemoglobinopathies are a group of hereditary diseases that cause quantitative or qualitative changes in the shape, function or synthesis of hemoglobin. One of the most common is sickle cell anemia, which, due to sickling of erythrocytes, causes vaso-occlusive phenomena. Among the possible ocular manifestations, the most representative is retinopathy, which can lead to blindness if left untreated. Therefore, periodic ophthalmologic monitoring of these patients is important for early diagnosis and adequate therapeutic management, which can be done localy by treating the lesions in the eyes, or systemically.

Resumo As hemoglobinopatias são um grupo de doenças hereditárias que causam alterações quantitativas ou qualitativas no formato, na função ou na síntese de hemoglobinas. Uma das mais comuns é a anemia falciforme, cuja patogenia é a foicização das hemácias, causando fenômenos vaso-oclusivos. Dentre as manifestações oculares possíveis, a mais representativa é a retinopatia, que pode levar à cegueira caso não seja tratada. Por isso, é importante que haja o acompanhamento oftalmológico periódico desses pacientes, a fim de obter diagnóstico precoce e abordagem terapêutica adequada. Esta última pode ser de maneira direta, com tratamento das lesões oculares, ou de forma sistêmica.

Hemoglobinopatia SD apresentada como hemoglobinopatia SS / Hemoglobinopathy SD presenting as Hemoglobinopathy SS

Este relato de caso mostra a interação da hemoglobina (Hb) S com a Hb D de uma criança que foi previamente diagnosticada como anemia falciforme (Hb SS) devido ao seu padrão de migração da eletroforese em pH alcalino. O fenômeno de falcização foi confirmado com 2% de metabissulfito de sódio. O pai e a mãe da criança apresentaram um padrão heterozigoto na eletroforese de hemoglobina em pH alcalino (Hb AS). O fenômeno de falcização foi confirmado para o pai, porém não foi confirmado para a mãe. A eletroforese em pH ácido foi realizado para diferenciar a Hb S da Hb D. O fenótipo da família foi estabelecido: o pai apresenta Hb AS, a mãe AD e a criança SD. O propósito do presente estudo foi ressaltar a importância da confirmação da Hb S detectada na eletroforese em pH alcalino, com o teste de solubilidade ou falcização e com a eletroforese em pH ácido. (AU)

This case report shows the interaction of hemoglobin (Hb) S with Hb D. in a child previously diagnosed with sickle cell anemia based on the Hb electrophoretic migration pattern in alkaline pH. The sickling phenomenon was confirmed with 2% sodium metabisulfite. The father and mother of the child had a heterozygous pattern (Hb AS) in hemoglobin electrophoresis at alkaline pH. The sickling phenomenon has been confirmed to the father, but it has not been confirmed for the mother. The electrophoresis at acid pH was used to differentiate Hb S from Hb D. The family's phenotype was established: the father has Hb AS, the mother AD and, the child SD. The purpose of this study was to emphasize the importance of confirmation of Hb S detected in electrophoresis at alkaline pH, with the solubility test or 2% sodium metabisulfite and with the electrophoresis at acid pH. (AU)

Clinical and laboratory profile of patients with sickle cell anemia

Abstract Objective: This study aimed to describe and analyze clinical and laboratory characteristics of patients with sickle cell anemia treated at the Hemominas Foundation, in Divinópolis, Brazil. Furthermore, this study aimed to compare the clinical and laboratory outcomes of the group of patients treated with hydroxyurea with those patients that were not treated with hydroxyurea. Methods: Clinical and laboratorial data were obtained by analyzing medical records of patients with sickle cell anemia. Results: Data from the medical records of 50 patients were analyzed. Most of the patients were female (56%), aged between 20 and 29 years old. Infections, transfusions, cholecystectomy, splenectomy and systemic arterial hypertension were the most common clinical adverse events of the patients. The most frequent cause of hospitalization was painful crisis. The majority of patients had reduced values of hemoglobin and hematocrit (8.55 ± 1.33 g/dL and 25.7 ± 4.4%, respectively) and increased fetal hemoglobin levels (12 ± 7%). None of the clinical variables was statistically significant on comparing the two groups of patients. Among hematological variables only hemoglobin and hematocrit levels were statistically different between patients treated with hydroxyurea and untreated patients (p-value = 0.005 and p-value = 0.001, respectively). Conclusion: Sickle cell anemia requires treatment and follow-up by a multiprofessional team. A current therapeutic option is hydroxyurea. This drug reduces complications and improves laboratorial parameters of patients. In this study, the use of the drug increased the hemoglobin and hematocrit levels of patients.

Cholelithiasis and its complications in sickle cell disease in a university hospital

Abstract Introduction: The clinical manifestations of sickle cell disease are related to the polymerization of hemoglobin S. The chronic hemolysis caused by this condition often causes the formation of gallstones that can migrate and block the common bile duct leading to acute abdomen. Objective: This study aimed to evaluate the profile of patients with sickle cell disease and cholelithiasis. Methods: Patients with sickle cell disease were separated into groups according to the presence or absence of cholelithiasis. Socioepidemiological and clinical characteristics, such as gender, age, use of hydroxyurea and the presence of other hemoglobinopathies were researched in the medical records of patients. Results: A hundred and seven patients with sickle cell anemia were treated at the institution. Of these, 27 (25.2%) had cholelithiasis. The presence of cholelithiasis was higher in the 11–29 age group than in younger than 11 years and over 29 years. No association was found for the presence of cholelithiasis with gender, use of hydroxyurea or type of hemoglobinopathy (hemoglobin SS, hemoglobin SC or sickle beta-thalassemia). Sixteen of the patients had to be submitted to cholecystectomy with 14 of the surgeries being performed by laparoscopy. Complications were observed in three patients and one patient died for reasons unrelated to the surgery. Conclusion: A quarter of patients with sickle cell disease had gallstones, more commonly in the 11- to 29-year age range. Patients should be monitored from childhood to prevent cholelithiasis with preoperative, intra-operative and postoperative care being crucial to reduce the risk of complications in these patients.

Stem Cell Therapy for Avascular Necrosis of Femoral Head in Sickle Cell Disease: Report of 11 Cases and Review of Literature

BACKGROUND AND OBJECTIVE: Sickle cell disease (SCD) is quite common in eastern Saudi Arabia and Avascular necrosis of femoral head (ANFH) occurs in 30% of the young patients leading to early joint arthroplasty. This study was conducted to assess the benefits of injection of osteoblasts in the avascular lesions of the head of femur. PATIENTS AND METHODS: A preset technique was used, 10 CC of bone marrow aspiration was performed under local anesthesia and aseptic technique. Osteoblasts were separated from the bone marrow cells. The avascular area was drilled and 10 million osteoblasts were transplanted at the lesion site. Patients were seen in the out patient clinic after two weeks for removal of the suture and addressed the questionnaire and examined for the range of movement. The follow up MRI was performed at 4 months. RESULTS: The average age was 20.2±3.9 years. The mean hemoglobin S was 81.6±4.8 percent. Quality of Life Score for Chronic Hip Disease was assessed and found at 8.6 (1 being the severe limitation and 10 being normal), whereas Harris hip score improved from 41.7±5.1 to 88.93±3.6 (p < 0.001). MRI of pre and post osteoblast implantation showed robust new bone formation and disappearance of the avascular lesions. CONCLUSIONS: The short term results were good and we believe the injection of osteoblast in the avascular lesion of head of femur is a less invasive procedure devoid of any untoward complications and merits such treatment in large patient group with longer follow up.

Síndrome drepanocítico: Asociación de hemoglobina S Y &ß talasemia / Sickle cell syndrome. Association between hemoglobin S and ß thalassemia

El síndrome drepanocítico HbS/β talasemia responde a la herencia de tipo mendeliana en simultáneo de un alelo βs de la hemoglobina S (HbS) y un alelo de β talasemia. Vinculado fundamentalmente a individuos que comparten ascendencia africana y de países del Mediterráneo. La mutación responsable de la HbS es puntual, mientras que para la β talasemia existen más de 200 mutaciones que causan diferentes grados de deficiencia de síntesis de la cadena de β globina, lo cual justifica la heterogeneidad clínica y genética de este síndrome. Se presenta el caso clínico de un adulto joven de escasos recursos que consulta por dolores óseos de larga data. Registra hemogramas con anemia y marcada microcitosis. Se le realizó electroforesis de Hb detectándose un pico anómalo en posición de HbS y elevada fracción de HbA2. El resultado de la electroforesis de hemoglobina indica dos posibles alteraciones moleculares en simultáneo, por tal motivo se realizó el estudio molecular de las mutaciones más frecuentes en nuestra población de β talasemia y de la mutación puntual responsable de la hemoglobinopatía S. A partir de la clínica y datos del laboratorio bioquímico se diagnosticó el síndrome drepanocítico y se confirmó por biología molecular la portación de las mutaciones IVS-Int 110 G > A (β talasemia) y del codón 6 A > T (GAG→GTG: Glu→Val) responsable de la hemoglobinopatía S. Dado que es una enfermedad de alto impacto sanitario, es importante un adecuado asesoramiento genético a toda la familia.

Sickle cell syndrome HbS/β thalassemia is an inheritable mendelian type disease where two affected alleles are simultaneously present, one from HbS (βS) and the other from β thalassemia. That situation is mainly linked to individuals who share African and Mediterranean ancestors. The mutation responsible for HbS is a point mutation, whereas for β thalassemia, there are more than 200 mutations that cause different degrees of deficiency synthesis of β globin chain, which justifies the clinical and genetic heterogeneity of this syndrome. It is presented a clinical case of a young adult man with limited resources that consulted by longstanding bone pain. The patient presented anemia with a marked microcytosis. Hemoglobin electrophoresis was performed, an abnormal peak in position of HbS and high HbA2 fraction were detected. These last results indicated two possible molecular alterations simultaneously, for this reason the molecular study was performed looking for the most common β thalassemia mutations in our population and, the point mutation responsible for S hemoglobinopathy. Clinical data and biochemical laboratory allowed the diagnosis of sickle cell syndrome. The molecular study confirmed the syndrome carrying mutations IVS-I nt 110 G > A, responsible for β thalassemia and, codon 6 A > T (GAG → GTG: Glu → Val) responsible for S hemoglobinophaty. Since it is a disease of high health impact, it is important to provide genetic counseling to the whole family.