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.

Complicación de una preeclampsia grave en una paciente portadora de hemoglobinopatía SC / Complication related to a severe pre-eclampsia and its complications in a patient carrier of SC hemoglobinopathy

Introducción: La hemoglobinopatía SC es una de las formas más severas de hemoglobinopatías S. Las pacientes con esta enfermedad tienen un riesgo incrementado de sufrir eclampsia, abortos, parto pretérmino, daño orgánico, infecciones y muerte súbita durante el embarazo. Objetivo: Identificar la conducta perioperatoria y evolución de una paciente con hemoglobinopatía SC asociada a preeclampsia grave. Presentación de caso: Se trata de una paciente con hemoglobinopatía SC asociada a preeclampsia grave, a la que se le realizó operación cesárea de urgencia con anestesia general orotraqueal. A pesar de la conducta seguida en el quirófano, desarrolló un cuadro sugestivo de hemolisis aguda con compromiso de varios órganos diana, agravamiento de la trombocitopenia y elevación concomitante de las transaminasas séricas. Conclusiones: La conducta preoperatoria debe ser orientada por un equipo multidisciplinario capaz de garantizar un tratamiento enérgico. Es de vital importancia que la atención a la preeclampsia con asociación o no de enfermedades poco comunes; se considere un síndrome multisistémico de severidad y curso variable. Es imprescindible lograr una adecuada perfusión orgánica, para evitar complicaciones futuras.

Introduction: SC hemoglobinopathy is one of the more severe ways of the S hemoglobinopathy. Patients presenting this disease have a high risk of eclampsia, miscarriages, pre-term labor, organic damage, infections, and sudden death during pregnancy. Objective: To identify Perioperative behavior and the course of a patient presenting with severe pre-eclampsia-associated SC hemoglobinopathy. A case presentation: A female patient presenting with severe pre-eclampsia-associated SC hemoglobinopathy had undergone an emergence secarean section using orothacheal general anesthesia. Despite the behavior followed in the operating theater, she developed a situation suggesting a acute hemodialysis with target organs involvement, worsening of thrombocytopenia, and concomitant rise of serum transaminases. Conclusions: Preoperative behavior must to be directed by a multidisciplinary team able to secure a vigorous treatment. It is very important that pre-eclampsia care associated or not with rare diseases be considered a multisystem syndrome of variable severity and course. It is essential to achieve a proper organic perfusion to avoid future complications.

Gravidez e contracepção na doença falciforme / Pregnancy and contraception in sickle cell disease

A contracepção hormonal na doença falciforme é considerada atualmente uma forma segura de diminuir o risco de uma gestação indesejada e/ou de planejar a prole das pacientes acometidas pela doença. Na doença falciforme, a gestação é uma situação de risco materno-fetal elevado, necessitando abordagem multidisciplinar, com o objetivo de reduzir as conseqüências danosas da anemia hemolítica crônica e da vaso-oclusão, típicas da doença. Nesse artigo são abordados os principais aspectos relacionados à contracepção e à gestação em pacientes com doença falciforme, com um panorama atualizado em relação a ambos os temas.

For women with sickle cell disease , hormonal contraception is an acceptable and reliable method of decreasing the risk of unwanted pregnancies. The use of combined oral contraceptives is considered safe in this group of patients according to the World Health Organization criteria. Medroxyprogesterone acetate is considered the safest hormonal contraceptive in sickle cell disease. Pregnancy carries increased risks of complications for woman as well as to the fetus, such as higher frequency of painful crises, spontaneous abortions, intrauterine growth retardation and higher neonatal mortality. Multidisciplinary teams are needed to manage pregnancy in sickle cell disease. The purpose of this article is to review some important aspects related to hormonal contraception and pregnancy in sickle cell disease.