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.

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.

Acidente vascular cerebral na hemoglobinopatia SC(HBB glu6val e glu6lys): avaliação de marcadores de prognóstico / hemoglobinopathy (HBB glu6val and glu6lys): evaluation of prognostic markers

O acidente vascular cerebral (AVC) é uma complicação clínica grave da doença falciforme (DF). Poucos estudos avaliaram a velocidade do fluxo sanguíneo cerebral utilizando o Doppler transcraniano (DTC) e marcadores preditores do AVC na hemoglobinopatia SC (HbSC) e, desta forma, as velocidades consideradas de risco para os indivíduos com esta hemoglobinopatia são baseadas em velocidades descritas para a anemia falciforme (AF) e para a Sβ talassemia (HbS/β). Assim, o objetivo do presente estudo foi identificar marcadores preditores do AVC em indivíduos com HbSC, estabelecendo subfenótipos da doença pela associação de biomarcadores genéticos, hematológicos, bioquímicos e imunológicos com o valor da velocidade do fluxo sanguíneo cerebral. Para tanto, foi realizado um estudo transversal, onde foram investigados 68 indivíduos com HbSC. A velocidade média máxima do fluxo sanguíneo cerebral nas artérias cerebral média, carótida anterior e cerebral anterior foi determinada utilizando o DTC...

Stroke is a serious clinical complication of sickle cell disease (SCD). Only few studies have evaluated the rate of cerebral blood flow by transcranial Doppler (TCD) and stroke predictor markers on hemoglobinopathy SC (HbSC), thus, velocity considered as risk for stroke that is used to diagnose HbSC individuals are based on velocities described for the sickle cell anemia (SCA) and Sβ thalassemia. The objective of this study was to identify predictors markers of stroke in individuals with HbSC, establishing subphenotypes disease by the association of genetic biomarkers, hematological, biochemical and immunological with the value of the velocity of cerebral blood flow. For that, we conducted a cross-sectional study, which were investigated 68 HbSC individuals. The average maximum rate of cerebral blood flow in the middle cerebral artery, anterior cerebral artery and anterior carotid artery was determined using the DTC...

Manifestações retinianas em pacientes portadores de anemia de células falciformes / Retinal sings in patients with sickle cell disease

A Organização Mundial de Saúde estima que mais de 5 por cento da população mundial seja portadora de algum tipo de hemoglobinopatia. Dentre essas encontramos a anemia de células falciformes, que tem seu principal efeito lesivo sobre a vasculatura periférica. Na retina, as lesões falciformes possuem fisiopatologia e classificação bem definidas. O objetivo é identificar as manifestações retinianas à anemia falciforme em pacientes encaminhados ao Hospital Bettina Ferro de Souza a partir do Hemocentro do Estado do Pará - HEMOPA. MÉTODOS: No Serviço de Oftalmologia do Hospital Universitário Bettina Ferro de Souza realizou-se em cinquenta pacientes portadores de anemia de células falciformes, sendo 37 genótipo SS e 13 genótipo SC, foram acompanhados pelo ambulatório de anemia falciforme do HEMOPA e selecionados aleatoriamente, sendo submetidos à entrevista para registro de sexo; idade; cor; genótipo; alterações oculares; medicamentos utilizados. exame oftalmológico, incluindo angiofluoresceínografia nos casos com alteração retiniana. RESULTADOS: Registro em protocolo de pesquisa e posteriormente submetidos à análise estatística utilizando o teste estatístico Qui-quadrado e p<0,05. Oitenta e oito por cento dos pacientes estudados não possuíam qualquer lesão retiniana falciforme, 3 por cento apresentaram oclusão vascular periférica, em 2 por cento evidenciou-se placa pigmentada, e 7 por cento apresentaram lesões não compatíveis com a doença falciforme; quanto ao sexo houve proporcionalidade de 50 por cento para ambos; faixa etária de maior predominância foi a de 11 e 15 anos com 38 por cento, 74 por cento enquandraram-se no genótipo SS e 26 por cento no SC. Em relação ao uso de medicamentos, notou-se maior prevalência de alterações oculares nos pacientes que faziam uso do ácido fólico isolado com 5 por cento, em contraste com aqueles em uso da associação hidróxiuréia e ácido fólico em que todos (27 por cento) possuíam exame fundoscópico normal. Todos os pacientes (29 por cento) com hemoglobina fetal acima de 10 por cento possuíam retina sem alterações. CONCLUSÃO: Poucos casos de lesões retinianas foram observados no grupo estudado, ainda assim esta pesquisa reafirma a importância da realização do exame oftalmológico de maneira precoce e periódica, visto que, a retinopatia falciforme é fato bem documentado e suas complicações podem resultar em amaurose.

The World Health Organization counts that more than 5 percent of the world's population carry some type of hemoglobinopathy. Among them we find the sickle cell aneamia that presents its main harmful effect on the peripheral vasculature. In the retina, the falciform lesions have a well defined physiopathology and classification. To identify the retinal manifestations caused by the falciform aneamia in patients directed to the Bettina Ferro de Souza Hospital from the Hemocenter of the State of Pará - HEMOPA, in the months of September through December of 2006. METHODS: Ophthalmologic examination was performed in the Department of Ophthalmology of the Bettina Ferro de Souza Hospital. and fifty patients with sickle cell aneamia (SS or SC) followed by the department of falciform aneamia of the Hematologia e Hemoterapia do Pará - HEMOPA have been randomly selected and submitted to interview in order to register their: sex; age; color; genotype; ocular alterations; medicines taken. Ophthalmologic examination was performed in the Department of Ophthalmology of the Bettina Ferro de Souza Hospital. It consisted of: evaluation of the acuity of vision with and without correction, indirect biomicroscopy, indirect binocular ophthalmoscopy, and, in case the latter presented alterations, a complementary study with angiofluoresceinography would be carried through. RESULTS: The outcomes have been registered in research protocol and later submitted to the statistic analysis using the Qui-square test, adopting, as level of significance, p<0,05. Eighty-eight percent of the patients did not present any falciform retinal sign, 3 percent presented peripheral vascular occlusion; in 2 percent, pigmented plate was shown, and 7 percent presented injuries which were not compatible with the falciform disease; there was a proportionality of 50 percent for males and females; there was a higher predominance (38 percent) of people aged from 11 and 15; 74 percent had SS genotype and 26 percent SC genotype; in relation to the use of medicines there was a higher prevalence of ocular alterations in patients who had made use of the folic acid isolated, with 5 percent, in contrast with those who had used the hidroxyurea association and folic acid, when all (27 percent) presented normal fundoscopic examination; all the patients (29 percent) that showed fetal hemoglobin rate above 10 percent had retina without alterations. CONCLUSION: Few cases of retinal signs have been observed in the studied group, however this research does not diminish the importance of early and periodic ophthalmologic examination, since falciform retinopathy is largely registered and its complications can lead to amaurosis.

Sickle cell chronic pulmonary disease among Africans: the need for increased recognition and treatment

The pulmonary complications of sickle cell disease (SCD) among adults are expected to increase since more of them are expected to survive into adulthood with improved healthcare delivery systems. Such complications; especially the chronic ones; which are usually collectively referred to as SCCLD (sickle cell chronic lung disease); are often under-appreciated by healthcare providers in sub-Saharan Africa. However; results of recent work in Nigeria show that SCCLD might not be as uncommon as previously thought. It is very important to detect SCCLD at an early stage; which is usually asymptomatic; the late stages are not usually responsive to conventional treatment. In Africa; outline spirometry can be used as a screening test for asymptomatic SCCLD in the follow-up of SCD. Patients with asymptomatic SCCLD should be offered measures that can prevent further deterioration of their condition; while those with more advanced symptomatic disease are treated symptomatically

Ischemic heart disease and ventricular dysfunction in children with sickle cell disease

Ischemic complications are common in sickle cell disease in children, even the heart is not spared and the early detection of myocardial ischemia in these children could prevent cardiac complications. Conventional techniques, such as exercise testing and echocardiography, have low sensitivity and specificity for the detection of myocardial ischemia in patients with SCD. We tried to find out whether ischemia affects the heart as well as the other organs using thallium-201 [[201]TI] single-photon emission computed tomography [SPECT] in children with SCA. We looked for risk factors and the most significant signs and symptoms, and also we tried to put a plan for treatment. Twenty four children with SCD who had presented with chest pain, ECG or echocardiographic abnormality had subjected to [[201]TI SPECT]. Myocardial perfusion was abnormal in 15 patients [60%]. Two patients had presented with heart failure, one with arrhythmia and one with stroke. 60% of patients who had perfusion defect had presented with chest pain. Hypoperfusion tend to occur in elder children who had more vaso-occlusive crises. Hydroxyurea was given for all patients with perfusion defect. The perfusion defects were reversible in the late recovery period in seven patients and irreversible in four patients. We concluded that myocardial perfusion defect is common in children with SCD, and hydroxyurea administration and hypertransfusion together with aggressive cardiac support is recommended for better prognosis

Colonização nasofaríngea pelo Streptococcus pneumoniae em crianças com doença falciforme usando penicilina profilática / Nasopharyngeal colonization by Streptococcus pneumoniae in children with sickle cell disease receiving prophylactic penicillin

OBJETIVOS: Determinar a prevalência de colonização nasofaríngea pelo pneumococo em crianças com doença falciforme, em uso de profilaxia com penicilina; identificar fatores de risco para colonização; sorotipar as cepas isoladas e avaliar a resistência antimicrobiana. METODOLOGIA: Foram colhidos 188 suabes de nasofaringe de 98 crianças com doença falciforme em acompanhamento no Hospital São Paulo, da Universidade Federal de São Paulo, no período de 09 de abril de 2002 a 28 de fevereiro de 2003. O isolamento e a identificação dos pneumococos seguiram procedimentos padronizados. A concentração inibitória mínima para penicilina foi determinada pelo método do E-test. A sorotipagem foi realizada pela reação de Neufeld-Quellung com anti-soros para 46 sorotipos. RESULTADOS: A idade variou de 4 meses a 17 anos (média e desvio padrão de 6,8±4,7 anos). Das 98 crianças do estudo, 13 apresentaram colonização pelo pneumococo (prevalência de 13,3 por cento). O maior risco de colonização ocorreu em menores de 2 anos de idade (p = 0,02). A prevalência de cepas com resistência intermediária à penicilina foi de 21,4 por cento, não sendo evidenciada resistência plena. Também não houve cepas resistentes à eritromicina, ceftriaxona e vancomicina. Os sorotipos isolados mais freqüentes foram o 18C e o 23F. CONCLUSÕES: O uso profilático de penicilina diminuiu a colonização nasofaríngea pelo pneumococo e não determinou aumento da resistência a esse antimicrobiano nas crianças com doença falciforme. A penicilina ainda pode ser usada na profilaxia e no tratamento dos episódios febris dessas crianças.

Influência do genótipo da hemoglobinopatia falciforme nasmanifestaçöes retinianas em pacientes de um hospital universitário / Sickle cell hemoglobinopathy genotypes and retinal manifestations in patients of a university hospital

Objetivo: Identificar as alterações retinianas em pacientes com hemoglobinopatia falciforme e comparar sua prevalência nos diferentes genótipos da doença em uma populaçäo de pacientes de hospital universitário de Porto Alegre - Brasil. Métodos: Realizou-se exame oftalmológico com avaliaçäo fundoscópica e estudo do genótipo de pacientes portadores de hemoglobinopatia falciforme.Resultados: Foram examinados 94 olhos de 47 pacientes com doença falciforme: 17 pacientes do sexo masculino e 30 feminino, com média de idades de 22,4 anos (ñ 16,8 anos). 20 pacientes possuíam genótipo SS, 10 possuíam SC, 10 possuíam AS, e 7 SThal. As alterações retinianas encontradas foram: hemorragia tipo "salmon patch" em 1 olho, hiperpigmentaçäo tipo "black sunburst" em 12 olhos, neovascularizaçäo tipo "sea fan" em 3 olhos, hemorragia vítrea em 1 olho e descolamento de retina em 1 olho. O grupo SC foi o que demonstrou ter maior freqüência de alteraçöes (60 porcento), e quando comparado com o grupo SS mostrou 4,0 vezes mais chance de apresentar retinopatia (p<0,05). Todos os 5 olhos com retinopatia proliferativa possuíam genótipo SC.Conclusões: A freqüência de alteraçöes fundoscópicas no grupo estudado bem como a gravidade das alterações (retinopatia proliferativa) säo maiores nos pacientes heterozigotos de genótipo SC, quando comparados com os demais genótipos

Eritrocitoferese pré-operatória em portador de hemoglobinopatia sc e estenose mitral / Preoperative Eritrocytopheresis in a Patient with Hemoglobinopathy SC and Mitral Stenosis

Hemoglobinopathies are associated with thrombotic complications, when exposed to cardiopulmonary bypass. A 54-year old, black woman with hemoglobinopathy SC and severe mitral stenosis was submitted to eritrocytopheresis 48 hours before mitral commissurotomy surgery. The therapeutic determined appearance of the percentual hemoglobin A of 68 with reduction the hemoglobin S of 48 to 15 and the hemoglobin C of 51 to 17. No complications occurred during postoperative period. To best of our knowledge, that is the first report about application the eritrocytopheresis in the pre operative extra corporeal circulation care in surgical treatment of patients with chronic rheumatic heart disease and hemoglobinopathy SC.

Microalbuminuria in sickle cell disease

The kidney is involved in virtually all individuals who inherit the suckle cell form of hemoglobin. though asymptomatic and relatively common, proteinuria in patients with sickle cell anemia (SS) over 40 years old is associated with reduced creatinine clearance. The subclinical incrase in urinary albumin is termed microalbuminuria and is a marker of preclinical glomerular damage. The aim of the present study was to determine the presence of microalbuminuria measured by radioimmunoassay in patients with sickle cell disease. The study inclused 41 patients with SS, 11 patients with hemoglobin SC disease, 4 subjects with Sß-thalassemia and 10 normal controls. All subjects were teenagers or adults. Sixteen SS patients (40%) and 1 SC (9%) and 1 Sß (25%) patient presented mean urinary albumin excretion (UAE) above normal values (30 mg/l). No correlation was observed between UAE and age, creatinine clearance, hemoglobin level or %HbF. These parameters, as well as the presence of ulcers, were not significantly differente between SS patients with and without UAE above 30 mg/dl. The high prevalence of microalbuminuria in patient with sickle cell anemia indicates that glomerular damage is common. The connection between microalbuminuria and clinical neplhropathy has been demonstrated in diabetes and may indicate a sign of early disease rather than a marker for susceptibility. Thus, microalbuminuria may be an early indicator of flomerular damage for patients with sickle cell disease