Les thalassémies en 2016
Tài liệu tham khảo
Joly, 2014, Beta-thalassemias : molecular, epidemiological, diagnostical and clinical aspects, Ann Biol Clin (Paris), 72, 639
Giambona, 2009, The significance of the hemoglobin A2 value in screening for hemoglobinopathies, Clin Biochem, 42, 1786, 10.1016/j.clinbiochem.2009.06.026
Old, 2003, Screening and genetic diagnosis of haemoglobin disorders, Blood Rev, 17, 43, 10.1016/S0268-960X(02)00061-9
Patricia Aguilar-Martinez, 2010, Arbres décisionnels pour le diagnostic et la caractérisation moléculaire des hémoglobinopathies, Annales de Biologie Clinique, 68, 455, 10.1684/abc.2010.0457
Melis, 1980, Hematological characteristics of sardinian alpha-thalassemia carriers detected in a population study, Acta Haematol, 63, 32, 10.1159/000207365
Al-Sweedan, 2009, The prevalence of factor V Leiden (G1691A), prothrombin G20210A and methylenetetrahydrofolate reductase C677T mutations in Jordanian patients with beta-thalassemia major, Blood CoagulFibrinolysis, 20, 675, 10.1097/MBC.0b013e3283315b4f
Forget, 2001, Molecular Genetics of the human globin genes, p117
Harteveld, 2010, Alpha-thalassaemia, Orphanet J Rare Dis, 5, 13, 10.1186/1750-1172-5-13
Kanavakis, 2004, A rare example that coinheritance of a severe form of beta-thalassaemia and alpha-thalassaemia interact in a “synergistic” manner to balance the phenotype of classic thalassemic syndromes, Blood Cells Mol Dis, 32, 319, 10.1016/j.bcmd.2003.12.005
Thein, 2008, Genetic modifiers of the beta-haemoglobinopathies, Br J Haematol, 141, 357, 10.1111/j.1365-2141.2008.07084.x
Garner, 2000, Genetic influences on F cells and other hematologic variables : a twin heritability study, Blood, 95, 342, 10.1182/blood.V95.1.342
Thein, 1994, Detection of a major gene for heterocellular hereditary persistence of fetal haemoglobin after accounting for genetic modifiers, Am J Hum Genet, 54, 214
Thein, 2007, Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults, Proc Natl Acad Sci U S A, 104, 11346, 10.1073/pnas.0611393104
Menzel, 2007, A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15, Nat Genet, 39, 1197, 10.1038/ng2108
Uda, 2008, Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of betathalassaemia, Proc Natl Acad Sci U S A, 105, 1620, 10.1073/pnas.0711566105
Sedgewick, 2008, BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies, Blood Cells Mol Dis., 41, 255, 10.1016/j.bcmd.2008.06.007
Sankaran, 2008, Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A, Science, 322, 1839, 10.1126/science.1165409
Thuret, 2014, Clinical management of beta-thalassaemia, Rev Prat, 64, 1132
Thuret, 2013, Post-transfusional iron overload in the haemoglobinopathies, C R Biol, 336, 164, 10.1016/j.crvi.2012.09.010
Musallam, 2013, Clinical experience with fetal hemoglobin induction therapy in patients with β-thalassemia, Blood, 121, 2199, 10.1182/blood-2012-10-408021
Cavazzana-Calvo, 2010, Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia, Nature, 467, 318, 10.1038/nature09328
Lena-Russo D, Badens C, Aubinaud M, et al. Outcome of a school screening program.
