RESUMEN
Transcranial Doppler (TCD) is used to detect children with sickle cell anemia (SCA) who are at risk for stroke, and transfusion programs significantly reduce stroke risk in patients with abnormal TCD. We describe the predictive factors and outcomes of cerebral vasculopathy in the Créteil newborn SCA cohort (n = 217 SS/Sß(0)), who were early and yearly screened with TCD since 1992. Magnetic resonance imaging/magnetic resonance angiography was performed every 2 years after age 5 (or earlier in case of abnormal TCD). A transfusion program was recommended to patients with abnormal TCD and/or stenoses, hydroxyurea to symptomatic patients in absence of macrovasculopathy, and stem cell transplantation to those with human leukocyte antigen-genoidentical donor. Mean follow-up was 7.7 years (1609 patient-years). The cumulative risks by age 18 years were 1.9% (95% confidence interval [95% CI] 0.6%-5.9%) for overt stroke, 29.6% (95% CI 22.8%-38%) for abnormal TCD, which reached a plateau at age 9, whereas they were 22.6% (95% CI 15.0%-33.2%) for stenosis and 37.1% (95% CI 26.3%-50.7%) for silent stroke by age 14. Cumulating all events (stroke, abnormal TCD, stenoses, silent strokes), the cerebral risk by age 14 was 49.9% (95% CI 40.5%-59.3%); the independent predictive factors for cerebral risk were baseline reticulocytes count (hazard ratio 1.003/L × 10(9)/L increase, 95% CI 1.000-1.006; P = .04) and lactate dehydrogenase level (hazard ratio 2.78/1 IU/mL increase, 95% CI1.33-5.81; P = .007). Thus, early TCD screening and intensification therapy allowed the reduction of stroke-risk by age 18 from the previously reported 11% to 1.9%. In contrast, the 50% cumulative cerebral risk suggests the need for more preventive intervention.
Asunto(s)
Anemia de Células Falciformes/diagnóstico por imagen , Anemia de Células Falciformes/terapia , Enfermedades Arteriales Cerebrales/diagnóstico por imagen , Enfermedades Arteriales Cerebrales/terapia , Tamizaje Neonatal/métodos , Ultrasonografía Doppler Transcraneal/métodos , Enfermedades Arteriales Cerebrales/congénito , Niño , Preescolar , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Enfermedades del Recién Nacido/diagnóstico por imagen , Enfermedades del Recién Nacido/terapia , Angiografía por Resonancia Magnética/efectos adversos , Angiografía por Resonancia Magnética/métodos , Masculino , Tamizaje Neonatal/efectos adversos , Factores de Tiempo , Resultado del Tratamiento , Ultrasonografía Doppler Transcraneal/efectos adversos , Ultrasonografía Doppler Transcraneal/estadística & datos numéricosRESUMEN
Prevention of sickle cell anemia, a severe and painful disease, relies on carrier detection and information, and on prenatal diagnosis with the possibility of medical abortion. Here we report the first results of a medical and welfare program launched in Paris 20 months ago and dedicated to sickle cell carrier screening and information.
Asunto(s)
Anemia de Células Falciformes/prevención & control , Asesoramiento Genético/organización & administración , Pruebas Genéticas/organización & administración , Centros de Información/organización & administración , Aborto Terapéutico , Adulto , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/genética , Anemia de Células Falciformes/fisiopatología , Femenino , Enfermedades Fetales/diagnóstico , Francia/epidemiología , Tamización de Portadores Genéticos , Humanos , Recién Nacido , Masculino , Paris , Embarazo , Complicaciones Hematológicas del Embarazo/diagnóstico , Complicaciones Hematológicas del Embarazo/genética , Diagnóstico Prenatal , Rasgo Drepanocítico/diagnóstico , Rasgo Drepanocítico/epidemiología , Rasgo Drepanocítico/genética , Rasgo Drepanocítico/fisiopatología , Factores SocioeconómicosRESUMEN
In France, 6000-7000 patients are suffering from sickle cell anemia in 2004. The number of patients in continental France exceeds the one found in the overseas regions. The highest frequency is found in the Parisian region where 185-200 new cases are annually diagnosed.
Asunto(s)
Anemia de Células Falciformes/epidemiología , Francia/epidemiología , Humanos , Incidencia , Población UrbanaRESUMEN
AIMS: The French national programme for neonatal screening of sickle cell disease is applied to newborns 'at risk', defined as those born to parents originating from sub-Saharan Africa, the Mediterranean area, the Arabic peninsula, the French overseas islands and the Indian subcontinent. The selection is performed by the nurse in charge of blood sampling by interviewing the mother about the family's geographical origins. The mean rate of testing in France is 25%, ranging from 2% to 50% depending on the region. This study aimed to evaluate the effectiveness of selection during this screening programme. METHODS: False-negative cases were identified using two different approaches: first, a regional prospective study aimed at screening all newborns, selected and non-selected, in a restricted area, representing 3% of national births; second, a retrospective national survey to identify false-negative cases. RESULTS: The regional study indicated that selective screening leads to a carrier frequency that is twice as high in the selected population as compared with the non-selected population (1.23% versus 0.62%). The local and national surveys revealed that, during a 6-year period, 28 affected children failed to be selected, leading to a false-negative rate of 2.1%. In contrast to what was expected, most of the cases were due to the failing of the data collection process and not to the misdiagnosis of the risk. CONCLUSIONS: These results show that selective neonatal screening for sickle cell disease is feasible if very careful attention is paid to the selective step.
Asunto(s)
Anemia de Células Falciformes/diagnóstico , Tamizaje Neonatal/métodos , Anemia de Células Falciformes/etnología , Reacciones Falso Negativas , Estudios de Factibilidad , Francia , Humanos , Recién Nacido , Tamizaje Neonatal/estadística & datos numéricos , Selección de Paciente , Evaluación de Programas y Proyectos de Salud , Estudios RetrospectivosRESUMEN
In this work data obtained on the VARIANT II hemoglobin analyzer using the Dual Kit elution system were compared to those obtained with the beta-Thalassemia Short Program. Since many laboratories still use an earlier model of the hemoglobin analyzer, the Variant 1, these data were also compared to those obtained with the latter instrument. Our study is divided into two parts. The first is an evaluation of the precision of the VARIANT II for determining the levels of hemoglobin (Hb)A2 and Hb F. This was carried out for normal subjects, thalassemic patients and patients with HbS. The second part concerns the potential of this instrument in the presumptive identification of Hb variants.