Bilateral tractional retinal detachment in hemoglobin SC disease patient / Descolamento tracional de retina bilateral em hemoglobinopatia S-C

ABSTRACT A 36-year-old black male presented with a progressive loss of visual acuity in both eyes for 7 years. He had a history of tractional retinal detachment in the right eye and vitreous hemorrhage followed by retinal detachment in the left eye. He denied any systemic illness, trauma, or drug abuse. After clinical investigation, he was diagnosed with SC hemoglobinopathy and proliferative sickle cell retinopathy stage V in both eyes.

RESUMO Paciente do sexo masculino, 36 anos, negro, apresentou baixa acuidade visual progressiva em ambos os olhos por 7 anos. Possuía antecedentes de descolamento tracional de retina no olho direito e hemorragia vítrea, seguida de descolamento de retina no olho esquerdo. Negava doenças sistêmicas, trauma ou abuso de drogas. Após investigação clínica, foi diagnosticado com hemoglobinopatia S-C e retinopatia falciforme proliferativa estágio V em ambos os olhos.

Rasgo falciforme e infarto esplénico: una entidad no ajena en población antioqueña / Sickle trait and splenic infarction, a non-foreign entity in Antioquia population

Resumen Generalmente, los pacientes con rasgo falciforme sufren pocas manifestaciones del espectro de la anemia de células falciformes. El infarto esplénico es raro, pero es una complicación documentada del rasgo falciforme y, usualmente, se presenta en condiciones de disminución de la presión parcial de oxígeno, como ocurre en grandes alturas. Se presenta el caso de un joven sin antecedentes, quien presentó dolor súbito en hipocondrio izquierdo luego de viaje a zona de gran altura y en quien se documentó infarto esplénico y posteriormente se confirmó como etiología del cuadro, rasgo falciforme mediante electroforesis de hemoglobina. La mayoría de los pacientes desconocen su rasgo falciforme, lo que hace desafiante su enfoque, retrasa el diagnóstico y resulta en manejos inadecuados que pueden aumentar la extensión del infarto esplénico y requerir finalmente esplenectomía.

Abstract Generally, patients with sickle cell trait have few manifestations of the sickle cell spectrum. Splenic infarction is rare, but is a documented complication of sickle cell trait and usually occurs under conditions of decreased partial pressure of oxygen, such as at high altitudes. We present the case of a young man with no previous history who presented sudden pain in the left hypochondrium after traveling to a high-altitude area. Splenic infarction was documented and sickle cell trait was later confirmed with hemoglobin electrophoresis as the etiology of the condition. Most patients remain ignorant of their sickle cell trait, which makes their approach challenging, delays diagnosis, and results in inappropriate management that may increase the extent of splenic infarction and eventually require splenectomy.

Polymorphisms in genes that affect the variation of lipid levels in a Brazilian pediatric population with sickle cell disease: rs662799 APOA5 and rs964184 ZPR1.

This cross-sectional study investigated associations between SNPs in metabolizing lipid genes, alpha-thalassemia and laboratory parameters in two forms of sickle cell disease (SCD), sickle cell anemia (SCA) and hemoglobin SC disease (HbSC) in a pediatric population. Among the groups SCA and HbSC was found a higher proportion of increased triglycerides (TG) in SCA. High levels of TG were significantly associated with lower hemoglobin (p = 0.006) and HDL-C (p = 0.037), higher white blood cell count (p = 0.027), LDH (p = 0.004) and bilirubins (p < 0.05) in SCD. Patients with HDL-C ≤40 mg/dL had higher markers hemolytic levels. Therapy of HU significantly influenced several hematological and biochemical parameters but not lipid fractions. Genotypes of the APOA5 rs662799 were not associated with lipid levels. The G-risk allele rs964184/ZPRI ZNF259/ZPR1 gene (GC + GG genotypes) was associated with increased levels of TG in children ≥10 years old (p = 0.045) and the atherogenic ratio TG/HDL-C (p = 0.032) in SCD. The use of HU improves levels of hemolysis and inflammation markers in SCD with high TG and, while not interfering with lipid levels, seems to overlap the effect of the G-risk allele in on them. This study reported for the first time that rs964184 SNP could be a genetic modifier of TG in SCD.

Caracterização clínica dos pacientes com hemoglobinopatia atendidos no Hemocentro de Sergipe / Clinical characterization of patients with hemoglobinopathy at Sergipe's Hemocentro

Descrever as características clínicas dos pacientes com hemoglobinopatias do Hemocentro de Sergipe. Neste estudo transversal foram coletados dados clínicos dos pacientes portadores de hemoglobinopatias através da leitura dos prontuários. Realizou-se estatística descritiva e análise de variáveis utilizando-se o teste ANOVA para comparação de médias e o teste exato de Fisher para associação, utilizando em ambos uma significância com p<0,05. Foram coletados os dados de 96 pacientes. A principal hemoglobinopatia encontrada foi a SS (85,4%), seguida da SC (11,5%) e ßtalassemia (3,1%). A principal complicação encontrada foi a hiperferritinemia (50,7%), que teve uma relação direta com a hemotransfusão (p=0,039) e os pacientes com mais complicações tinham uma maior idade (p=0,026). A hemotransfusão foi necessária em 71,9% dos pacientes, enquanto que a hidroxiureia e o deserafirox em 40,6% e 13,5%, respectivamente. A principal hemoglobinopatia encontrada foi SS, teve como principal complicação a hiperferritinemia e o principal tratamento realizado foi a hemotransfusão.

To describe the clinical characteristics of patients with hemoglobinopathies at the Blood Center of Sergipe. In this cross-sectional study, clinical data were collected from patients with hemoglobinopathies by reading the medical records. Descriptive statistics and variable analysis were performed using the ANOVA test for comparison of means and Fisher's exact test for association, using a significance level of p<0.05. Data were collected from 96 patients. The main hemoglobinopathy found was SS (85.4%), followed by SC (11.5%) and ß-thalassemia (3.1%). The main complication was hyperferritinemia (50.7%), which had a direct relationship with blood transfusion (p=0.039) and patients with more complications had an older age (p=0.026). Hemotransfusion was required in 71.9% of the patients, whereas hydroxyurea and deserafirox in 40.6% and 13.5%, respectively. The main hemoglobinopathy found was SS, the main complication was hyperferritinemia and the main treatment was hemotransfusion.

Bone marrow necrosis and fat embolism syndrome: a dreadful complication of hemoglobin sickle cell disease.

Sickle cell disease encompasses a wide range of genotypic presentation with particular clinical features. The entity affects millions of people, particularly those whose ancestors came from sub-Saharan Africa and other countries in the Western Hemisphere, Saudi Arabia, and India. Currently, the high frequency of S and C genes reflects natural selection through the protection of heterozygotes against severe malaria, the high frequency of consanguineous marriages, improvement of some public health policies and the nutritional standards in the poorer countries where newborns are now living long enough to present for diagnosis and management. Although there is a high burden of the disease, in many countries, the new-born sickle cell screening test is being performed and is rendering an early diagnosis; however, it is still difficult for sickle cell patients to find proper treatment and adequate follow-up. Moreover, in many countries, patients are neither aware of their diagnosis nor the care they should receive to prevent complications; also, they do not receive adequate genetic counseling. Hemoglobin SC (HbSC) disease is the most frequent double sickle cell heterozygosis found in Brazil. The clinical course tends to be more benign with fewer hospitalizations compared with double homozygotic SS patients. However, HbSC patients may present severe complications with a fatal outcome. We report the case of a 36-year-old man who presented to the emergency care facility with symptoms consistent with the diagnosis of sickling crisis. The outcome was unfavorable and death occurred just hours after admission. The autopsy revealed a generalized vaso-occlusive crisis by sickled red cells, bone marrow necrosis, and fat embolism syndrome.

Bone marrow necrosis and fat embolism syndrome: a dreadful complication of hemoglobin sickle cell disease

Sickle cell disease encompasses a wide range of genotypic presentation with particular clinical features. The entity affects millions of people, particularly those whose ancestors came from sub-Saharan Africa and other countries in the Western Hemisphere, Saudi Arabia, and India. Currently, the high frequency of S and C genes reflects natural selection through the protection of heterozygotes against severe malaria, the high frequency of consanguineous marriages, improvement of some public health policies and the nutritional standards in the poorer countries where newborns are now living long enough to present for diagnosis and management. Although there is a high burden of the disease, in many countries, the new-born sickle cell screening test is being performed and is rendering an early diagnosis; however, it is still difficult for sickle cell patients to find proper treatment and adequate follow-up. Moreover, in many countries, patients are neither aware of their diagnosis nor the care they should receive to prevent complications; also, they do not receive adequate genetic counseling. Hemoglobin SC (HbSC) disease is the most frequent double sickle cell heterozygosis found in Brazil. The clinical course tends to be more benign with fewer hospitalizations compared with double homozygotic SS patients. However, HbSC patients may present severe complications with a fatal outcome. We report the case of a 36-year-old man who presented to the emergency care facility with symptoms consistent with the diagnosis of sickling crisis. The outcome was unfavorable and death occurred just hours after admission. The autopsy revealed a generalized vaso-occlusive crisis by sickled red cells, bone marrow necrosis, and fat embolism syndrome.

Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service / Aleitamento materno e perfil antropométrico de crianças com doença falciforme acompanhadas em serviço de referência em triagem neonatal

OBJECTIVE: To study the breastfeeding history (BF) and the anthropometric status of children with Sickle Cell Disease (SCD). METHODS: A cross-sectional study of 357 children with SCD aged between 2 and 6 years, regularly followed at a Newborn Screening Reference Service (NSRS) between November 2007 and January 2009. The outcome was anthropometric status and the exposures were: BF pattern, type of hemoglobinopathy and child's age and gender. RESULTS: The mean (SD) age was 3.7 (1.1) years, 52.9% were boys and 53.5% had SCA (hemoglobin SS). The prevalence of exclusive breastfeeding (EBR) up to six months of age was 31.5%, the median EBR times (p25-p75) was 90.0 (24.0-180.0) days and the median weaning ages (p25-p75) was 360.0 (90.0-720.0) days respectively. Normal W/H children experienced EBR for a mean duration almost four times longer than malnourished children (p=0.01), and were weaned later (p<0.05). Height deficit was found in 5.0% of children, while all the children with severe short stature had had SCA (hemoglobin SS) and were older than 4 years of age. CONCLUSIONS: EBF time and weaning age were greater than that found in the literature, which is a possible effect of the multidisciplinary follow-up. Duration of EBF and later weaning were associated with improved anthropometric indicators.

OBJETIVO: Descrever a história de aleitamento materno (AM) e estado antropométrico de crianças com doença falciforme (DF). MÉTODOS: Estudo transversal com 357 crianças com hemoglobinopatias SS e SC de dois e seis anos, acompanhadas regularmente num Serviço de Referência em Triagem Neonatal (SRTN) entre novembro de 2007 e janeiro de 2009. O desfecho correspondeu ao estado antropométrico e as exposições foram: padrão do AM, tipo de hemoglobinopatia, faixa etária e sexo da criança. RESULTADOS: A média (DP) de idade observada foi de 3,7 (1,1) anos, 52,9% meninos e 53,5% com hemoglobinopatia SS. A prevalência de aleitamento materno exclusivo (AME) até o sexto mês foi de 31,5%, a mediana (p25-p75) do tempo de AME foi de 90 (24-180) dias e a mediana (p25-p75) da idade de desmame foi de 360 (90-720) dias. Crianças eutróficas em relação ao P/A tiveram o tempo de AME, em média, quase quatro vezes maior do que os desnutridos (p < 0,01), bem como foram desmamadas mais tarde (p < 0,05). O déficit de altura foi encontrado em 5% das crianças e todas as crianças com baixa estatura grave tinham hemoglobinopatia SS e mais de quatro anos. CONCLUSÕES: O tempo de AME e a idade de desmame foram superiores aos encontrados na literatura, possível efeito do acompanhamento multidisciplinar. A duração do AME e a idade mais tardia de desmame foram associadas a melhores indicadores antropométricos.

[Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service]. / Aleitamento materno e perfil antropométrico de crianças com doença falciforme acompanhadas em serviço de referência em triagem neonatal.

OBJECTIVE: To study breastfeeding history (BF) and the anthropometric status of children with Sickle Cell Disease (SCD). METHODS: A cross-sectional study of 357 children with SS and SC hemoglobinopathies aged between 2 and 6 years old receiving regular follow-up at a Newborn Screening Reference Service (NSRS) between November 2007 and January 2009. The outcome was anthropometric status and the exposures were: BF pattern, type of hemoglobinopathy and child's age and sex. RESULTS: The average (SD) age was 3.7 (1.1) years, 52.9% were boys and 53.5% had SS hemoglobinopathy. The prevalence of exclusive breastfeeding (EBR) up to six months of age was 31.5%, the median EBR times (p25-p75) was 90.0 (24.0-180.0) days and the median weaning ages (p25-p75) was 360.0 (90.0-20.0) days respectively. Normal W/H children experienced EBR for an average duration almost four times longer than malnourished children (p=0.01), and were weaned later (p<0.05). Height deficit was found in 5.0% of children, while all the children with severe short stature had SS hemoglobinopathy and were over 4 years of age. CONCLUSIONS: EBR time and weaning age were greater than found in the literature, which is a possible effect of the multidisciplinary follow-up. Duration of EBR and later weaning were associated with improved anthropometric indicators.

Follow-up of children with hemoglobinopathies diagnosed by the Brazilian Neonatal Screening Program in the State of Pernambuco.

OBJECTIVE: To determine the geographical distribution of hemoglobinopathies in the State of Pernambuco, to characterize the children with these diseases and to describe factors associated with their follow-up at the referral center during the period from 2003 to 2010. METHODS: A retrospective, cross-sectional, descriptive study was carried out of 275 medical records from a total of 302 children with hemoglobinopathies diagnosed by the National Neonatal Screening Program in the State of Pernambuco in the study period. Microsoft Excel was used for data processing and analysis. The chi-square and the Fisher test were used for statistical analysis. The level of significance was set at 5%. Terra View software was used to analyze the geographical distribution of hemoglobinopathies in the State. RESULTS: A total of 8.9% of the cases of hemoglobinopathies detected in the period were not followed up at the referral center. For the mothers of children with diseases, this was their second or third or more pregnancy in 64.2% and 30.2%, respectively. Regarding the influence of region of residence and regular medical appointments, the study demonstrated that children from the Zona da Mata, Sertão and Vale do São Francisco regions did not attend 45.2%, 50% and 55.6% of their appointments in the outpatient department, respectively. CONCLUSIONS: This study shows that a significant number of children do not begin consultations in the outpatient clinic and even those who started treatment early and who have the most severe form of the disease, usually miss medical appointments.

Clinical complications in pregnant women with sickle cell disease: prospective study of factors predicting maternal death or near miss.

OBJECTIVE: To evaluate complications in pregnant women with sickle cell disease, especially those leading to maternal death or near miss (severe obstetric complications). METHODS: A prospective cohort of 104 pregnant women registered in the Blood Center of Belo Horizonte (Hemominas Foundation) was followed up at high-risk prenatal units. They belonged to Group I (51 hemoglobin SS and three hemoglobin S/ß(0)-thalassemia) or Group II (49 hemoglobin SC and one hemoglobin S/ß(+)-thalassemia). Both groups had similar median ages. Predictive factors for 'near miss' or maternal death with p-value≤0.25 in the univariate analysis were included in a multivariate logistic model (significance set for p-value≤0.05). RESULTS: Group I had more frequent episodes of vaso-occlusive crises, more transfusions in the antepartum and postpartum, and higher percentage of preterm deliveries than Group II. Infections and painful crises during the postpartum period were similar in both the groups. The mortality rate was 4.8%: three deaths in Group I and two in Group II. One-third of the women in both the groups experienced near miss. The most frequent event was pneumonia/acute chest syndrome. Alpha-thalassemia co-inheritance and ß-gene haplotypes were not associated with near miss or maternal death. In multivariate analysis predictors of near miss or death were parity above one and baseline red blood cell macrocytosis. In Group I, baseline hypoxemia (saturation<94%) was also predictive of near miss or death. CONCLUSION: One-third of pregnant women had near miss and 4.8% died. Both hemoglobin SS and SC pregnant women shared the same risk of death or of severe complications, especially pulmonary events.

Clinical complications in pregnant women with sickle cell disease: prospective study of factors predicting maternal death or near miss

OBJECTIVE: To evaluate complications in pregnant women with sickle cell disease, especially those leading to maternal death or near miss (severe obstetric complications). METHODS: A prospective cohort of 104 pregnant women registered in the Blood Center of Belo Horizonte (Hemominas Foundation) was followed up at high-risk prenatal units. They belonged to Group I (51 hemoglobin SS and three hemoglobin S/ß0-thalassemia) or Group II (49 hemoglobin SC and one hemoglobin S/ß+-thalassemia). Both groups had similar median ages. Predictive factors for 'near miss' or maternal death with p-value = 0.25 in the univariate analysis were included in a multivariate logistic model (significance set for p-value = 0.05). RESULTS: Group I had more frequent episodes of vaso-occlusive crises, more transfusions in the antepartum and postpartum, and higher percentage of preterm deliveries than Group II. Infections and painful crises during the postpartum period were similar in both the groups. The mortality rate was 4.8%: three deaths in Group I and two in Group II. One-third of the women in both the groups experienced near miss. The most frequent event was pneumonia/acute chest syndrome. Alpha-thalassemia co-inheritance and ß-gene haplotypes were not associated with near miss or maternal death. In multivariate analysis predictors of near miss or death were parity above one and baseline red blood cell macrocytosis. In Group I, baseline hypoxemia (saturation < 94%) was also predictive of near miss or death. CONCLUSION: One-third of pregnant women had near miss and 4.8% died. Both hemoglobin SS and SC pregnant women shared the same risk of death or of severe complications, especially pulmonary events...

Follow-up of children with hemoglobinopathies diagnosed by the Brazilian Neonatal Screening Program in the State of Pernambuco

OBJECTIVE: To determine the geographical distribution of hemoglobinopathies in the State of Pernambuco, to characterize the children with these diseases and to describe factors associated with their follow-up at the referral center during the period from 2003 to 2010. METHODS: A retrospective, cross-sectional, descriptive study was carried out of 275 medical records from a total of 302 children with hemoglobinopathies diagnosed by the National Neonatal Screening Program in the State of Pernambuco in the study period. Microsoft Excel was used for data processing and analysis. The chi-square and the Fisher test were used for statistical analysis. The level of significance was set at 5%. Terra View software was used to analyze the geographical distribution of hemoglobinopathies in the State. RESULTS: A total of 8.9% of the cases of hemoglobinopathies detected in the period were not followed up at the referral center. For the mothers of children with diseases, this was their second or third or more pregnancy in 64.2% and 30.2%, respectively. Regarding the influence of region of residence and regular medical appointments, the study demonstrated that children from the Zona da Mata, Sertão and Vale do São Francisco regions did not attend 45.2%, 50% and 55.6% of their appointments in the outpatient department, respectively. CONCLUSIONS: This study shows that a significant number of children do not begin consultations in the outpatient clinic and even those who started treatment early and who have the most severe form of the disease, usually miss medical appointments...

Bone marrow necrosis and fat embolism: an autopsy report of a severe complication of hemoglobin SC disease.

Sickle Cell Disease encompasses a group of disorders related with the hemoglobin S and other hemoglobin genotypes. The clinical manifestation and the severity of symptoms are dependent on the specific genotype. In this setting, homozygous genotype (HbSS) presents an early onset of symptoms and a low expectancy of lifetime. However, the SC genotype (HbSC), which apparently shows a less severe clinical course, may exhibit the same complications of HbSS. These complications are usually manifested late in the course of life, when compared with the HbSS patients. It is noteworthy that HbSC may present a normal hematocrit, and therefore stays unknown until the first complication, that may be disastrous. The authors report a case of an African-Descendant woman, aging 65 years, with no previous diagnosis of anemia who sought medical attention because of a thoracic back pain followed by fever and altered mental status. The clinical picture deteriorated very fast with multiple organ failure and death. The autopsy findings concluded by generalized vaso-occlusive crisis, bone marrow necrosis and bone marrow and fat embolism, mainly to the lungs and kidney. The authors call attention for the knowledge of this severe life threatening complication, mainly in a country with a high Afro-Descendant population.

Vulnerabilidade de pessoas adultas com doença falciforme: subsídios para o cuidado de enfermagem / Vulnerability in adults with sickle cell disease: subsides for nursing care / Vulnerabilidad de los adultos con anemia de células falciformes: apoyo a los cuidados de enfermería

O presente estudo foi desenvolvido com o objetivo de conhecer aspectos relacionados ao viver do adulto com doença falciforme com base no conceito de vulnerabilidade (individual, social e programática), apontando elementos para o cuidado de enfermagem. Estudo descritivo de abordagem qualitativa, com coleta de dados entre fevereiro e julho de 2011, por meio de entrevistas semiestruturadas realizadas nos domicílios de doze pessoas adultas, com doença falciforme, de um município baiano. Os resultados apontam que os planos analíticos básicos de vulnerabilidade, embora abordados de forma separada, encontram-se num processo ativo e interdependente, denotando pouca compreensão das pessoas sobre a doença devido ao diagnóstico tardio; pequeno poder de transformação de atitudes e comportamentos; condições de pauperização e de baixa escolaridade do paciente e familiar; dificuldade de acesso aos serviços de saúde; e inadequação nos serviços de atendimento de emergência. Torna-se necessária a organização do cuidado e dos serviços de saúde com base no reconhecimento das vulnerabilidades e na melhora do acesso aos equipamentos e às oportunidades sociais, econômicas e culturais oferecidas pela sociedade e pelo Estado.

This study was developed with the aim to get acquainted with the aspects related to the life of an adult with sickle cell disease. For this purpose, the concept of vulnerability (social, individual and programmatic) was used pointing out to the elements of nursing care. This is a descriptive study of qualitative approach whose data were collected from February to June 2011 through semi-structured interviews performed at the household of 12 adults with sickle cell disease in a municipality in Bahia. The results show that the basic analytical plans of vulnerability, although verified separately, are interdependent and in an active process showing little understanding of the people regarding the disease due to late diagnosis. Moreover, this study also indicates little power to change attitude and behavior of the patient; lower income class and little education of the patient and his/her family, difficulty to the access of health services and inadequacy of emergency care service. It is necessary the organization of care in health services acknowledging the vulnerable aspects of it as well as the improvement of the access to equipment and social, cultural and economic opportunities offered by society and the state.

El presente estudio fue desarrollado con el objetivo de conocer aspectos relacionados al vivir del adulto con enfermedad falciforme con base en el concepto de vulnerabilidad (individual, social y programática), señalando elementos para el cuidado de enfermería. Estudio descriptivo de abordaje cualitativo, con recolección de datos entre febrero y julio de 2011, por medio de entrevistas semiestructuradas realizadas en los domicilios de doce personas adultas, con enfermedad falciforme, de un municipio de Bahia. Los resultados apuntan que los planes analíticos básicos de vulnerabilidad, aunque abordados de forma separada, se encuentran en un proceso activo e interdependiente, denotando poca comprensión de las personas sobre la enfermedad debido al diagnóstico tardío; pequeño poder de transformación de actitudes y comportamientos; condiciones de pauperización y de baja escolaridad del paciente y familiar; dificultad de acceso a los servicios de salud; e inadecuación en los servicios de atención de urgencia. Se torna necesaria la organización del cuidado y de los servicios de salud con base en el reconocimiento de las vulnerabilidades y en la mejora del acceso a los equipamientos y a las oportunidades sociales, económicas y culturales ofrecidas por la sociedad y por el Estado.

The systematization of nursing assistance in care when a patient with anemia falciform with leg ulcer / A Sistematização da Assistência de Enfermagem no cuidado ao paciente portador de anemia falciforme com úlcera de perna / La sistematización de la asistencia de enfermería en la atención a pacientes con anemia falciforme con ulcera de la pierna

Objective: To raise the nursing diagnos es more evident and their interventions according to Nursing Diagnostic Terminology (NANDA) and Nursing Interventions Classification (NIC). Method: This is an exploratory study which had methodological design based on the experience of the authors in the dressing clinic in a public hospital specializing in hematology, as part of the residency program in nursing. Results: DE was determined eight, two and six real risk, which were described as NANDA Taxonomy I. It also sought after determination of these diagnoses, propose nursing interventions based on the Nursing Interventions Classification (NIC). Conclusion: The findings revealed that meet the nursing diagnoses of subjects with leg ulcers secondary to sickle cell disease is extremely important for nurses to plan individual care provided to these patients.

Objetivo: levantar os diagnósticos de enfermagem mais evidentes e suas respectivas intervenções de acordo com Nursing Diagnostic Terminology (NANDA) e Nursing Interventions Classification (NIC). Método: trata-se de um estudo exploratório o qual teve seu desenho metodológico baseado na vivência dos autores no ambulatório de curativo de um Hospital Estadual especializado em hematologia, como parte do programa de residência em enfermagem. Resultados: foram determinados oito DE, sendo dois de risco e seis reais, os quais foram descritos conforme a Taxonomia I da NANDA. Buscou-se também, após a determinação desses diagnósticos, propor intervenções de enfermagem baseadas na Nursing Interventions Classification (NIC). Conclusão: os achados revelaram que conhecer os diagnósticos de enfermagem dos indivíduos portadores de úlcera de perna secundária a anemia falciforme é de extrema importância para que os enfermeiros possam planejar individualmente o cuidado prestado a esta clientela.

Objetivo: aumentar los diagnósticos de enfermería más evidentes y sus intervenciones de acuerdo con la terminología del diagnóstico de enfermería (NANDA) y la Clasificación de Intervenciones de Enfermería (NIC). Método: Se trata de un estudio exploratorio que tenía un diseño metodológico basado en la experiencia de los autores en la clínica de vestir en un hospital público especializado en hematología, como parte del programa de residencia en enfermería. Resultados: se determinó DE ocho, dos y seis riesgo real, que fueron descritos como Taxonomía NANDA I. Además, se solicitó después de la determinación de estos diagnósticos, proponer intervenciones de enfermería basadas en la Clasificación de Intervenciones de Enfermería (NIC). Conclusión: Los resultados revelaron que cumplan con los diagnósticos de enfermería de pacientes con úlceras secundarias a la enfermedad de células falciformes es extremadamente importante que las enfermeras planear el cuidado individual previsto para estos pacientes.

Glomerular filtration rate is altered in children with sickle cell disease: a comparison between Hb SS and Hb SC.

BACKGROUND: Renal failure is common among older patients with sickle cell disease; this is preceded by subclinical glomerular hyperfiltration. Data about renal function of adults with sickle cell disease have been reported, but data on children is scarce, especially when comparing heterozygotic and homozygotic patients. OBJECTIVE: The goal of this study was to investigate the glomerular filtration rate of heterozygotic and homozygotic children with sickle cell disease. METHODS: The glomerular filtration rate of 11 children with sickle cell disease [7 homozygotic (SS) and 4 heterozygotic (SC)] with a mean age of 11 years (standard deviation: ± 5 years) was evaluated using standard laboratory techniques. Results are presented as descriptive analysis. RESULTS: Our results suggest that glomerular hyperfiltration is present in children with sickle cell disease; this is more evident in homozygotic than heterozygotic children. CONCLUSION: There is evidence of a need to monitor the renal function of children with sickle cell disease when special attention should be paid to homozygotic patients.

Sickle cell retinopathy: diagnosis and treatment / Retinopatia falciforme: diagnóstico e tratamento

Hemoglobinopathies are a group of inherited disorders characterized by quantitative or qualitative malformations of hemoglobin (Hb). Some of these diseases present vaso-occlusive phenomena that are responsible for high morbidity in clinical and/or ophthalmologic terms. Diagnosis of hemoglobinopathies is performed exclusively through hemoglobin electrophoresis. From the ophthalmologic perspective, the most important representative of this group of diseases is sickle cell retinopathy, which presents a wide spectrum of fundus manifestations and may even lead to irreversible vision loss if not properly diagnosed and treated. The aim of this review is to present the classification of sickle cell retinopathy and to describe current management and future perspectives for its treatment, taking into consideration the clinical management of these patients.

As hemoglobinopatias são um grupo de doenças hereditárias caracterizadas por mal-formações quantitativas ou qualitativas da hemoglobina (Hb). Algumas destas doenças podem apresentar fenômenos vaso-oclusivos, responsáveis por alta morbidade do ponto de vista clínico e/ou oftalmológico. O diagnóstico das hemoglobinopatias é feito exclusivamente através da eletroforese de hemoglobinas. Do ponto de vista oftalmológico, a representante mais importante deste grupo de doenças é a retinopatia falciforme, que pode apresentar um amplo espectro de manifestações fundoscópicas, podendo, inclusive, levar à perda visual irreversível se não for corretamente diagnosticada e tratada. O objetivo desta revisão é apresentar a classificação desta doença, a conduta no tratamento atual, bem como suas perspectivas futuras de tratamento, considerando-se as particularidades no manejo clínico destes pacientes.

Glomerular filtration rate is altered in children with sickle cell disease: a comparison between Hb SS and Hb SC

BACKGROUND Renal failure is common among older patients with sickle cell disease; this is preceded by subclinical glomerular hyperfiltration. Data about renal function of adults with sickle cell disease have been reported, but data on children is scarce, especially when comparing heterozygotic and homozygotic patients. OBJECTIVE The goal of this study was to investigate the glomerular filtration rate of heterozygotic and homozygotic children with sickle cell disease. METHODS The glomerular filtration rate of 11 children with sickle cell disease [7 homozygotic (SS) and 4 heterozygotic (SC)] with a mean age of 11 years (standard deviation: ± 5 years) was evaluated using standard laboratory techniques. Results are presented as descriptive analysis. RESULTS Our results suggest that glomerular hyperfiltration is present in children with sickle cell disease; this is more evident in homozygotic than heterozygotic children. CONCLUSION There is evidence of a need to monitor the renal function of children with sickle cell disease when special attention should be paid to homozygotic patients.

Osteoarticular involvement in sickle cell disease.

The osteoarticular involvement in sickle cell disease has been poorly studied and it is mainly characterized by osteonecrosis, osteomyelitis and arthritis. The most frequent complications and those that require hospital care in sickle cell disease patients are painful vaso-occlusive crises and osteomyelitis. The deoxygenation and polymerization of hemoglobin S, which results in sickling and vascular occlusion, occur more often in tissues with low blood flow, such as in the bones. Bone microcirculation is a common place for erythrocyte sickling, which leads to thrombosis, infarct and necrosis. The pathogenesis of microvascular occlusion, the key event in painful crises, is complex and involves activation of leukocytes, platelets and endothelial cells, as well as hemoglobin S-containing red blood cells. Osteonecrosis is a frequent complication in sickle cell disease, with a painful and debilitating pattern. It is generally insidious and progressive, affecting mainly the hips (femur head) and shoulders (humeral head). Dactylitis, also known as hand-foot syndrome, is an acute vaso-occlusive complication characterized by pain and edema in both hands and feet, frequently with increased local temperature and erythema. Osteomyelitis is the most common form of joint infection in sickle cell disease. The occurrence of connective tissue diseases, including rheumatoid arthritis and systemic lupus erythematosus, has rarely been reported in patients with sickle cell disease. The treatment of these complications is mainly symptomatic, and more detailed studies are required to understand the pathophysiological mechanisms involved in the complications and propose more adequate and specific therapies.

Osteoarticular involvement in sickle cell disease

The osteoarticular involvement in sickle cell disease has been poorly studied and it is mainly characterized by osteonecrosis, osteomyelitis and arthritis. The most frequent complications and those that require hospital care in sickle cell disease patients are painful vaso-occlusive crises and osteomyelitis. The deoxygenation and polymerization of hemoglobin S, which results in sickling and vascular occlusion, occur more often in tissues with low blood flow, such as in the bones. Bone microcirculation is a common place for erythrocyte sickling, which leads to thrombosis, infarct and necrosis. The pathogenesis of microvascular occlusion, the key event in painful crises, is complex and involves activation of leukocytes, platelets and endothelial cells, as well as hemoglobin S-containing red blood cells. Osteonecrosis is a frequent complication in sickle cell disease, with a painful and debilitating pattern. It is generally insidious and progressive, affecting mainly the hips (femur head) and shoulders (humeral head). Dactylitis, also known as hand-foot syndrome, is an acute vaso-occlusive complication characterized by pain and edema in both hands and feet, frequently with increased local temperature and erythema. Osteomyelitis is the most common form of joint infection in sickle cell disease. The occurrence of connective tissue diseases, including rheumatoid arthritis and systemic lupus erythematosus, has rarely been reported in patients with sickle cell disease. The treatment of these complications is mainly symptomatic, and more detailed studies are required to understand the pathophysiological mechanisms involved in the complications and propose more adequate and specific therapies.