Sickle cell retinopathy: characterization among patients over 40 years of age / Retinopatia falcêmica: caracterização da doença na população acima de 40 anos de idade

Abstract Purpose: This article aims to describe the prevalence of retinal alterations on the indirect binocular ophthalmoscopy exam in patients with sickle cell disease (HbSS or HbSC) who are over 40 years of age. Methods: This is a retrospective study in which patients with sickle cell disease (SCD) with an age group of 40 years or older were attended in a service of retina in Salvador, Brasil on the last 10 years. All patients were submitted to the clinical file filling, which includes the sociodemographic profile, clinical profile and ophthalmologic examination. The patients were divided in two groups (SS or SC), according to genotypic profile of hemoglobinopathy (HbSS or HbSC). The classification of retinopathy was performed according to Goldberg in proliferative and non-proliferative retinopathy. A P-value <0.05 was considered statistically significant. Results: A total of 97 patients (194 eyes) were evaluated, being 44 (45%) of the SC group and 53 (55%) of the SS group. Of the 97 patients, 19 (19.5%) did not present retinal changes and 78 (80,5%) present sickle cell retinopathy. Of the 78 patients with retinopathy, 22 (28%) had nonproliferative sickle retinopathy and 56 (72%) had proliferative alterations. The increase in vascular tortuosity was the most observed nonproliferative sign (26.8% of eyes) in both groups. The SC patients presented a greater proportion of findings of areas of retinal non perfusion (30%) than SS patients (p = 0.015). Conclusion: The results suggest the need for regular ophthalmologic follow-up of patients with SCD, especially in the older age group, due to the high prevalence of 80.5% of findings of sickle cell retinopathy on examination in patients over 40 years old.

Resumo Objetivos: Este artigo tem como objetivo avaliar a prevalência de alterações retinianas observadas pelo exame de oftalmoscopia binocular indireta em pacientes com doença falciforme (HbSS e HbSC) com mais de 40 anos de idade. Métodos: Estudo retrospectivo com pacientes com doença falciforme (DF) na faixa etária acima de 40 anos, atendidos em serviço especializado em Salvador, Brasil nos últimos 10 anos. Todos os pacientes foram submetidos ao preenchimento da ficha clínica, em que incluía perfil sociodemográfico, clínico e exame oftalmológico. Os pacientes foram divididos em dois grupos (SS ou SC), de acordo com seu padrão genotípico da hemoglobinopatia (HbSS ou HbSC). A classificação da retinopatia foi realizada de acordo com Goldberg em retinopatia não proliferativa e proliferativa. Um valor de p<0.05 foi considerado estatisticamente significante. Resultados: Um total de 97 pacientes (194 olhos) foram avaliados, sendo 44 (45%) do grupo SC e 53 (55%) do grupo SS. Dos 97 pacientes, 19 (19,5%) não apresentavam alterações retinianas e 78 (80,5%) apresentavam retinopatia falcêmica. Destes 78 pacientes com alterações retinianas, 22 (28%) possuem sinais de retinopatia não proliferativa e 56 (72%) possuem alterações proliferativas. O aumento da tortuosidade vascular foi o sinal de doença não proliferativa mais observado (26,8% dos olhos) em ambos os grupos. Os pacientes do grupo SC apresentaram a maior proporção de achados proliferativos, como áreas de não perfusão retiniana, que os pacientes SS (30%) (p = 0.015). Conclusão: Os resultados sugerem a necessidade de manter um acompanhamento oftalmológico regular dos pacientes com DF, especialmente pacientes com maior faixa etária, devido à alta prevalência observada (80,5%) de retinopatia falcêmica em pacientes acima de 40 anos de idade.

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

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

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

Velocidade de fluxo sanguíneo cerebral em crianças em crianças e adolescentes com doença falciforme em Salvador, Bahia / Cerebral blood flow velocity in children and adolescents with sickle cell disease in Salvador, Bahia

INTRODUÇÃO: A doença falciforme (DF) é caracterizada por complicações agudas e crônicas. Entre as agudas podemos citar: episódios álgicos, síndrome torácica aguda (STA), priapismo, crise hemolítica, infecções agudas e acidente vascular cerebral (AVC), sendo este útimo responsavel por complicações a longo prazo na infância. A velocidade do fluxo sanguíneo cerebral (VFSC) elevada é o fator de risco mais importante para o desenvolvimento do AVC em crianças com anemia falciforme. A identificação de pacientes de risco associados a velocidades de fluxo sanguíneos cerebrais anormais é realizada pelo Doppler transcraniano (DTC), exame fundamental à prevenção primária do AVC. OBJETIVOS: Avaliar as velocidades de fluxo sanguíneo cerebral em crianças e adolescentes com DF em Salvador-Bahia, para identificar aqueles com risco alto de AVC, além de correlacionar as velocidades de fluxo cerebral com os perfis clínico e hematológico dos pacientes. PACIENTES E MÉTODOS: O DTC por insonação, utilizando uma sonda de 2 MHZ...

BACKGROUND: Sickle cell disease (SCD) is characterized by acute episodes of illnesses (crises) such as bone pain crisis, acute chest syndrome (ACS), priapism, hemolytic crisis, acute infections; and acute and long term complications such as cerebrovascular accident (CVA). Abnormally high cerebral blood flow velocity is the most important risk factor for development of stroke in pediatric patients with sickle cell anemia, and its detection by transcranial Doppler (TCD) is fundamental in primary stroke prevention. Other clinical, hematologic and genetic risk factors of stroke have also been identified. OBJECTIVES: The study aimed at evaluating the cerebral blood flow velocities of children and adolescents with SCD in Salvador, Brazil, detect those at high risk of stroke and correlate the flow velocities with clinical and hematological profiles of the patients. PATIENTS AND METHODS: Transcranial Doppler was performed on subjects aged 2 to 16 years who fulfilled the inclusion criteria, using a 2 MHz...

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.

Childhood haemoglobinopathies in Benghazi

To determine the epidemiological pattern of haemoglobinopathies in Benghazi through the Children's Hospital in Benghazi as well as geographical distribution of cases. The information was initially collected retrospectively through the haematology clinic records, and then refined from the patients during their visit in the last 5 months. A total of 78 files of haemoglobinopathies, represented [18.1%] the total cases in the clinic. Sickle cell anaemia [74%], sickle cell trait [17%] haemoglobin C+S [6%], haemoglobin C trait [3%]. Consanguinity in 61% of the families. Their age at evaluation ranged from 6 months to 26 years with a mean of 10.84+6.75. mean of haemoglobin 7.5+2. Male to female ratio 1:1.4. For each patient: the number of admissions ranged from 1-10 times with a mean of 2.6, and the frequency of blood transfusions ranged from 0-10 times. cholelithiasis [4.8%], stroke [hemiplegia] 6[9.5%], hepatitis B and C [9.5%], HIV [3.1%], hypersplenism [6.3%], acute chest syndrome [6.3%]. One patient died from overwhelming sepsis [post splenectomy]. Almost all the cases were originally from the southern areas, dark skinned, poor school performance. Symptomatic cases were registered, with a high non-compliance, and higher percentage of consanguinity. A national programme for the control of the disease by reducing carrier marriage is needed

Sickle cell disease in Wayanad, Kerala: gene frequencies and disease characteristics.

BACKGROUND: A large number of patients with sickle cell anaemia are seen at the Medical College, Calicut from among the tribals and Chetti communities of the adjacent Wayanad district. We carried out a population-based study of gene frequencies and disease characteristics to plan an appropriate intervention. METHODS: Clinical examination and haemoglobin electrophoresis were done in 1016 subjects belonging to the tribal and Chetti communities in Wayanad district, by visiting hamlets and schools and evaluating everyone present at the time of the visit. RESULTS: The gene frequency of haemoglobin S ranged from 0.019 in Kattunayakan to 0.196 in Wayanadan Chettis. Wayanadan Chettis, Kurumas and Adiyas showed a high number of homozygotes with the oldest being 48 years. The survival of homozygotes is longer than what is generally recorded in other states. The disease was mild in 52.2% of cases. Painful crises were found in 43.5% and splenomegaly and leg ulcers in 4.3% each. The mean haemoglobin F rate in homozygotes was 25.9%. It was higher in clinically mild cases and in those showing an absence of irreversible sickle cells in the peripheral smear. CONCLUSIONS: The survival of patients with sickle cell anaemia seems to be higher in Kerala as compared to other states. It appears that even small improvements in primary health care available to the population (as in Kerala) are sufficient to achieve this effect. Integration of disease diagnosis and management into the already existing health care delivery system may lead to even better survival and quality of life.

Doença falciforme no Brasil. Origem, genótipo, haplótipos e distibuiçäo geográfica / Sickle cell disease in Brazil. Origin, genotypes, haplotypes and geographic distribution

A doença falciforme é a mais comum das alteraçöes hematológicas hereditárias conhecida no homem. Sua distribuiçäo no mundo afeta principalmente os negros da África e da América do Norte, bem como algumas populaçöes latinas. É estimado que no Brasil haja cerca de 7 milhöes de portadores säo do gene ßs, e cerca de 10 mil com doenças falciformes. Com o avanço no estudo de técnicas de DNA, tem sido muito fácil investigar a base molecular desta alteraçäo genética, e conhecer sua origem e distribuiçäo a partir da África. Por meio de análises de haplótipos do gene ßs, tem sido possível conhecer a origem desse gene no Brasil, e a prevalência dos haplótipos Banto e Benin

Sickle cell disease in India.

A screening programme involving 9,822 hospitalised patients revealed the frequency of individuals with S gene to be 11.1 per cent. A population survey of 1,000 randomised subjects from amongst about 70,000 people in one block of the area showed the frequency to be 15.1%. The gene is not confined to tribal peoples, but is prevalent throughout the society, being more frequent in scheduled castes and some caste Hindus. With the available Indian data a sickle cell belt can be mapped out in the country. Analysis of clinical data on the first 700 cases of sickle cell disease seen in the Sickle Cell Research Centre (ICMR) at Burla shows patients of all ages, even beyond 40 years, though many patients tend to die by 20 years of age. Genetically, while most patients are SS and 8.1% are S-beta thalassaemia, cases of SD disease and SE disease were also encountered. A frequency of 0.32% of alpha thalassaemia gene was noted in SS patients against 0.28% in sickle cell trait and 0.12% in AA controls. The disease was found to manifest as early as 3 months or may remain asymptomatic till adult life. Though generally running a milder course, moderate to severe anaemia, vaso-occlusive attacks (86.5-89.36%), splenic sequestration (8.43%-12.76%), crippling avascular bone necrosis (5.7%-35.08%), osteomyelitis (5/700), and epistaxis (28.92%-35.08%) remain a few clinical events deserving competent and urgent medical management.(ABSTRACT TRUNCATED AT 250 WORDS)