Estimation of the difference in HbF expression due to loss of the 5' δ-globin BCL11A binding region

Haematologica

Volumn 98, Issue 2, 2013, Pages 305-308

  Ghedira, Elyes Slim ^a,b   Lecerf, Laure ^a   Faubert, Emmanuelle ^a   Costes, Bruno ^a   Moradkhani, Kamran ^a   Bachir, Dora ^a   Galactéros, Frédéric ^a   Pissard, Serge ^a,c  

^a HENRI MONDOR HOSPITAL   (France)

^b UNIVERSITY OF MONASTIR   (Tunisia)

^c UNIVERSITÉ PARIS EST CRÉTEIL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN DELTA CHAIN; HEMOGLOBIN F; BCL11A PROTEIN, HUMAN; CARRIER PROTEIN; NUCLEAR PROTEIN; PROTEIN BINDING;

ADULT; ARTICLE; BCL11A GENE; CHILD; CLINICAL ARTICLE; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; RETROSPECTIVE STUDY; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; BINDING SITE; GENETICS; GENOTYPE; METABOLISM; MIDDLE AGED; PHENOTYPE; YOUNG ADULT;

ADOLESCENT; ADULT; BINDING SITES; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DELTA-GLOBINS; FEMALE; FETAL HEMOGLOBIN; GENE DELETION; GENE EXPRESSION; GENOTYPE; HUMANS; MALE; MIDDLE AGED; NUCLEAR PROTEINS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN BINDING; YOUNG ADULT;

EID: 84873997640     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2012.061994     Document Type: Article

References (13)

1. Menzel S, Garner C, Gut I, Matsuda F, Yamaguchi M, Heath S, Foglio M, et al. A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet. 2007; 39:1197-9.
2. Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of b-thalassemia. Proc Natl Acad Sci USA. 2008; 105:1620-5.
3. Lettre G, Sankaran VG, Bezerra MA, Araújo AS, Uda M, Sanna S, et al. DNA polymorphisms at the BCL11A, HBS1L-MYB, and ddglobin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci USA. 2008;105:11869-74.
4. Galarneau G, Palmer CD, Sankaran VG, Orkin SH, Hirschhorn JN, Lettre G. Finemapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat Genet. 2010;42:1049-51.
5. Sankaran VG, Menne TF, Xu J, Akie TE, Lettre G, Van Handel B, et al. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science. 2008;322:1839-42.
6. Sankaran VG, Xu J, Byron R, Greisman HA, Fisher C, Weatherall DJ, et al. A functional element necessary for fetal hemoglobin silencing. N Engl J Med. 2011;365:807-14.
7. Feingold EA, Forget BG. The breakpoint of a large deletion causing hereditary persistence of fetal hemoglobin occurs within an erythroid DNA domain remote from the b-globin gene cluster. Blood. 1989;74:2178-86.
8. Wilson JB, Huisman THJ. Detection and quantitation of normal and abnormal hemoglobins in adults and newborn by HPLC. In: Huisman THJ, ed. The Hemoglobinopathies. Methods in Hematology, Vol. 15. Edinburgh: Churchill Livingstone. 1986:32-46.
9. Casilli F., Di Rocco ZC., Gad S., Tournier I., Stoppa-Lyonnet D. Frebourg T et al, rapid detection of novel BRCA1rearrangements in high-risk breast-ovarian cancer families using short fluorescent fragments. Human Mutation. 2002;20:218-26
10. Kulozik AE, Bellan-Koch A, Kohne E, Kleihauer E. A deletion/inversion rearrangement of the b-globin gene cluster in a Turkish family with db0-thalassemia intermedia. Blood. 1992;79:2455-9.
11. Joly P, Lacan P, Garcia C, Couprie N, Francina A. Identification and molecular characterization of four new large deletions in the b-globin gene cluster. Blood Cells Mol Dis 2009;43:53-7.
12. Badens C, Joly P, Agouti I, Thuret I, Gonnet K, Fattoum S, et al. Variants in genetic modifiers of b-thalassemia can help to predict the major or intermedia type of the disease. Haematologica. 2011;96:1712-4.
13. Wilber A, Nienhuis AW, Persons DA. Transcriptional regulation of fetal to adult hemoglobin switching: new therapeutic opportunities. Blood. 2011;117:3945-53.