Sickle cell disease in France in 2006:: results and challenges

被引：10

作者：

de Montalembert, M. ^{[1
]}

Girot, R. ^{[1
]}

Galacteros, F. ^{[1
]}

机构：

[1] Hop Necker Enfants Malad, Assistance Publ Hop Paris, Serv Pediat Gen, Ctr Ref Prise Charge Drepanocytose, F-75015 Paris, France

来源：

ARCHIVES DE PEDIATRIE | 2006年 / 13卷 / 09期

关键词：

neonatal screening; homozygous sickle cell disease; heterozygous sickle cell disease; trans-cranial doppler;

D O I：

10.1016/j.arcped.2006.06.006

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Sickle cell disease is currently recognized as the most frequent genetic disease screened in the neonatal period in France, and begins to be funded by Public Health Authorities. Despite these issues, SCD is still largely unknown, in particular by general public and practitioners, and education about the disease has to be intensified. Respective roles of proximate and reference centres have to be better defined. Screening of heterozygous patients remains to be organized. Limits of definition of a severe form, and therapeutic options need to be debated. (c) 2006 Elsevier SAS. Tous droits reserves.

引用

页码：1191 / 1194

页数：4

共 10 条

[1] THE USE OF TRANSCRANIAL ULTRASONOGRAPHY TO PREDICT STROKE IN SICKLE-CELL DISEASE [J].

ADAMS, R ;

MCKIE, V ;

NICHOLS, F ;

CARL, E ;

ZHANG, DL ;

MCKIE, K ;

FIGUEROA, R ;

LITAKER, M ;

THOMPSON, W ;

HESS, D .

NEW ENGLAND JOURNAL OF MEDICINE, 1992, 326 (09) :605-610

[2] Prevention of a first stroke by transfusions in children with sickle, cell anemia and abnormal results on transcranial Doppler ultrasonography [J].

Adams, RJ ;

McKie, VC ;

Hsu, L ;

Files, B ;

Vichinsky, E ;

Pegelow, C ;

Abboud, M ;

Gallagher, D ;

Kutlar, A ;

Nichols, FT ;

Bonds, DR ;

Brambilla, D ;

Woods, G ;

Olivieri, N ;

Driscoll, C ;

Miller, S ;

Wang, W ;

Hurlett, A ;

Scher, C ;

Berman, B ;

Carl, E ;

Jones, AM ;

Roach, ES ;

Wright, E ;

Zimmerman, RA ;

Waclawiw, M ;

Pearson, H ;

Powars, D ;

Younkin, D ;

El-Gammal, T ;

Seibert, J ;

Moye, L ;

Espeland, M ;

Murray, R ;

McKinley, R ;

McKinley, S ;

Hagner, S ;

Weiner, S ;

Estow, S ;

Yelle, M ;

Brock, K ;

Carter, E ;

Chiarucci, K ;

Debarr, M ;

Feron, P ;

Harris, S ;

Hoey, L ;

Jacques, K ;

Kuisel, L ;

Lewis, N .

NEW ENGLAND JOURNAL OF MEDICINE, 1998, 339 (01) :5-11

[3]

[Anonymous], 2004, DREPANOCYTOSE REGARD

[4]

BILLINGS PR, 1992, AM J HUM GENET, V50, P476

[5]

DEMONTALEMBERT M, 2005, JOURNEES PARISIENNES, P123

[6]

GIROT R, 2003, DREPANOCYTOSE

[7] Outcomes of universal antenatal screening for haemoglobinopathies [J].

Greengross, P ;

Hickman, M ;

Gill, M ;

Dugan, B ;

Davies, SC .

JOURNAL OF MEDICAL SCREENING, 1999, 6 (01) :3-10

[8]

Ohene-Frempong K, 1998, BLOOD, V91, P288

[9] Successful correction of the human β-thalassemia major phenotype using a lentiviral vector [J].

Puthenveetil, G ;

Scholes, J ;

Carbonell, D ;

Oureshi, N ;

Xia, P ;

Zeng, LC ;

Li, SL ;

Yu, Y ;

Hiti, AL ;

Yee, JK ;

Malik, P .

BLOOD, 2004, 104 (12) :3445-3453

[10]

WEILOLIVIER C, IN PRESS ARCH PEDIAT

← 1 →