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.

Retinopathy in patient with AC hemoglobinopathy / Retinopatia em pacientes com hemoglobinopatia AC

Abstract Hemoglobin C is the second most frequent Hb variant in Brazil and the world. Hemoglobin C trait is described as a benign and asymptomatic condition. There is little information in the literature about the association of retinal vascular disease and the presence of hemoglobin AC, being this information restricted to a few case reports. This case report describes a 26-year-old female patient with hemoglobin C trait. She presents areas of non-perfusion and arteriovenous shunts in the retinal temporal periphery of the left eye, like changes in Goldberg's stage II of proliferative sickle retinopathy. After three years of follow-up, the patient exhibits the same the alteration in right eye as well.

Resumo A hemoglobina C é a segunda variante de hemoglobina mais comum no Brasil e no mundo. O traço C é descrito como uma condição benigna e assintomática. Há pouca informação na literatura sobre a associação de doença vascular retiniana e a presença de hemoglobina AC, sendo esta informação restrita a alguns poucos relatos de casos. Este relato de caso descreve uma paciente do gênero feminino de 26 anos de idade com traço C. Ela apresenta áreas de não perfusão e shunts artério-venosos na periferia temporal da retina do olho esquerdo, similar ao estágio II de Goldberg de retinopatia proliferativa falciforme. Após três anos de acompanhamento, a paciente apresentou a mesma alteração também em olho direito.

Evolutionary profile of patients with hemoglobin SC disease regularly followed in Côte d'Ivoire

Background: West Africa is recognized as the elective focus of hemoglobin C. The S and C combination in the same patient gives a major sickle cell syndrome. In our country, very few series dealing with the evolutionary features of this SC form have been published contrary to the homozygous SS form. The aim of this study was to describe the evolutionary profile of double heterozygous SC sickle cell patients.Methods: This was a retrospective and prospective study with descriptive and analytical purpose of 174 SC sickle cell patients.Results: The median age was 26 years with extremes of 6 years and 57 years. 96% of patients had less than 4 vaso-occlusive seizures per year. The evolutionary complications were mainly ischemic (56.30%) and infectious (39.10%). Among ischemic complications, sickle cell retinopathies and aseptic osteonecrosis are the most common with 59.20% and 31.63% respectively. Infectious complications were dominated by ENT (36.76%) and osteoarticular (35.29%) infections. Only age had an influence on the occurrence of ischemic complications (p = 0.0001). The probability of survival at 5 years was 99.38% and that at 20 years was 91.57%. The overall survival was not influenced by evolutionary complications.Conclusions: Infectious and ischemic evolutionary complications show the importance of vaccination and an early screening program.

Hemoglobinopathy detection through an institutional neonatal screening program in Colombia / Detecção de hemoglobinopatias por meio de um programa institucional de triagem neonatal na Colômbia

ABSTRACT Introduction: Hemoglobinopathies are among the most common genetic disorders of hemoglobin worldwide and a public health problem. In Colombia, even though geographical areas with high incidence of this disorder have been reported, the absence of a national screening program does not permit us to determine its prevalence. Objective: Establish the prevalence of hemoglobin variants in a population covered by the neonatal screening program of Clínica Colsanitas S.A., between June 2000 and December 2014, including eight capital cities in Colombia. Methods: A retrospective cross-sectional study was conducted. We collected data from reports of the neonatal hemoglobinopathy-screening program for full-term newborn babies between 5 and 15 days old. Qualitative hemoglobin analysis was performed using gel electrophoresis of blood samples taken from the babies' heels. Results: The overall prevalence of abnormal Hb was 1.3%. Within the groups of newborns affected with any hemoglobinopathy (n = 400), the most frequent abnormal structural hemoglobins found were HbS (43%), HbC (9%), fast Hb (8%). For quantitative hemoglobins, HbA2 was 3.7% and HbA kept slightly elevated in 14.7% of cases. Frequency of homozygosis for HbS was 0.01%. Barranquilla, Cartagena and Cali were the cities with the greatest frequency of hemoglobinopathies. No correlation between sex and abnormal hemoglobin was found. Discussion and conclusion: Taking in consideration data from the World Health Organization (WHO) on hemoglobinopathies, our prevalence of > 1% is considered high. Therefore, a more extended coverage and the need for a national screening program are priorities.

RESUMO Introdução: As hemoglobinopatias são doenças genéticas comuns em todo o mundo e representam um problema de saúde pública. Na Colômbia, embora existam áreas geográficas com maior risco de apresentá-las, não há programas de triagem nem estudos para estabelecer sua prevalência na população. Objetivo: Estabelecer a prevalência de variantes de hemoglobina (Hb) na população pertencente ao programa de triagem neonatal da Clínica Colsanitas S.A. entre junho de 2000 e dezembro de 2014, em oito cidades do país. Métodos: Estudo transversal retrospectivo. Os registros do programa de triagem neonatal das hemoglobinopatias foram revistos para a informação dos resultados de eletroforese de hemoglobina em pH alcalino, praticada no sangue dos recém-nascidos com idades compreendidas entre 5-15 dias. Resultados: A prevalência geral de Hb anormal foi de 1,3%. Dentro dos grupos de recém-nascidos afetados com qualquer hemoglobinopatia (n = 400), as hemoglobinas anormais estruturais mais frequentes foram hemoglobina S (HbS) (43%), hemoglobina C (HbC) (9%) e Hb rápida (8%). Para as Hb quantitativas, o aumento da hemoglobina A2 (HbA2) foi de 3,7%, e a hemoglobina A (HbA) aumentada permaneceu ligeiramente elevada em 14,7% casos. A frequência de homozigotos para HbS foi de 0,01%. Barranquilla, Cartagena e Cali foram as cidades com maior frequência de hemoglobinopatias. Não houve associação entre sexo e presença de algum tipo de Hb. Discussão e conclusão: A prevalência global de hemoglobinopatias em nosso estudo foi alta (> 1%) de acordo com os critérios da Organização Mundial de Saúde (OMS). Portanto, há a necessidade de implementação de programas de triagem neonatal com maior cobertura nacional para as hemoglobinopatias.

Prevalence of orofacial alterations in sickle cell disease: a review of literature

AIM: To evaluate the manifestations of sickle cell disease on the orofacial complex through a review of current literature concerning prevalence of dental caries, periodontal disease, temporomandibular joint disorders and radiographic alterations of maxillofacial bones. METHODS: Full-text papers retrieved from MEDLINE and LILACS electronic databases were critically reviewed. RESULTS: Alterations of maxillofacial bones are well documented in the literature, but studies reporting caries, periodontal condition and temporomandibular joint alterations in are scarce and inconclusive. CONCLUSION: Further well-designed epidemiological studies are needed to indicate the real impact of this disease on the stomatognathic health, collaborating to improve public health policies.