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An Aγ-globin G->A gene polymorphism associated with β(0)39 thalassemia globin gene and high fetal hemoglobin production.

Abstract Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea).
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Authors

Mayor MeshTerms

Polymorphism, Genetic

Keywords

Aγ-globin gene polymorphism

Fetal hemoglobin

LYAR

β-thalassemia

Journal Title bmc medical genetics
Publication Year Start




PMID- 28851297
OWN - NLM
STAT- MEDLINE
DA  - 20170830
DCOM- 20170912
LR  - 20170912
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 18
IP  - 1
DP  - 2017 Aug 29
TI  - An Agamma-globin G->A gene polymorphism associated with beta039 thalassemia
      globin gene and high fetal hemoglobin production.
PG  - 93
LID - 10.1186/s12881-017-0450-3 [doi]
AB  - BACKGROUND: Increase of the expression of gamma-globin gene and high production
      of fetal hemoglobin (HbF) in beta-thalassemia patients is widely accepted as
      associated with a milder or even asymptomatic disease. The search for
      HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has
      recently gained great attention, in order to stratify beta-thalassemia patients
      with respect to expectancy of the first transfusion, need for annual intake of
      blood, response to HbF inducers (the most studied of which is hydroxyurea).
      METHODS: Agamma-globin gene sequencing was performed on genomic DNA isolated from
      a total of 75 beta-thalassemia patients, including 31 beta039/beta039, 33
      beta039/beta+IVSI-110, 9 beta+IVSI-110/beta+IVSI-110, one beta0IVSI-1/beta+IVSI-6
      and one beta039/beta+IVSI-6. RESULTS: The results show that the rs368698783
      polymorphism is present in beta-thalassemia patients in the 5'UTR sequence (+25) 
      of the Agamma-globin gene, known to affect the LYAR (human homologue of mouse
      Ly-1 antibody reactive clone) binding site 5'-GGTTAT-3'. This Agamma(+25 G->A)
      polymorphism is associated with the Ggamma-globin-XmnI polymorphism and both are 
      linked with the beta039-globin gene, but not with the beta+IVSI-110-globin gene. 
      In agreement with the expectation that this mutation alters the LYAR binding
      activity, we found that the Agamma(+25 G->A) and Ggamma-globin-XmnI polymorphisms
      are associated with high HbF in erythroid precursor cells isolated from
      beta039/beta039 thalassemia patients. CONCLUSIONS: As a potential explanation of 
      our findings, we hypothesize that in beta-thalassemia the
      Ggamma-globin-XmnI/Agamma-globin-(G->A) genotype is frequently under genetic
      linkage with beta0-thalassemia mutations, but not with the beta+-thalassemia
      mutation here studied (i.e. beta+IVSI-110) and that this genetic combination has 
      been selected within the population of beta0-thalassemia patients, due to
      functional association with high HbF. Here we describe the characterization of
      the rs368698783 (+25 G->A) polymorphism of the Agamma-globin gene associated in
      beta039 thalassemia patients with high HbF in erythroid precursor cells.
FAU - Breveglieri, Giulia
AU  - Breveglieri G
AD  - Department of Life Sciences and Biotechnology, Ferrara University, Via Fossato di
      Mortara 74, 44121, Ferrara, Italy.
AD  - Biotechnology Center, Ferrara University, Ferrara, Italy.
FAU - Bianchi, Nicoletta
AU  - Bianchi N
AD  - Department of Life Sciences and Biotechnology, Ferrara University, Via Fossato di
      Mortara 74, 44121, Ferrara, Italy.
FAU - Cosenza, Lucia Carmela
AU  - Cosenza LC
AD  - Department of Life Sciences and Biotechnology, Ferrara University, Via Fossato di
      Mortara 74, 44121, Ferrara, Italy.
AD  - Biotechnology Center, Ferrara University, Ferrara, Italy.
FAU - Gamberini, Maria Rita
AU  - Gamberini MR
AD  - Department of Medical Sciences - Pediatry, Ferrara University, Ferrara, Italy.
FAU - Chiavilli, Francesco
AU  - Chiavilli F
AD  - Department of Transfusional Medicine - ULSS 18, Rovigo, Italy.
FAU - Zuccato, Cristina
AU  - Zuccato C
AD  - Department of Life Sciences and Biotechnology, Ferrara University, Via Fossato di
      Mortara 74, 44121, Ferrara, Italy.
FAU - Montagner, Giulia
AU  - Montagner G
AD  - Department of Life Sciences and Biotechnology, Ferrara University, Via Fossato di
      Mortara 74, 44121, Ferrara, Italy.
FAU - Borgatti, Monica
AU  - Borgatti M
AD  - Department of Life Sciences and Biotechnology, Ferrara University, Via Fossato di
      Mortara 74, 44121, Ferrara, Italy.
FAU - Lampronti, Ilaria
AU  - Lampronti I
AD  - Department of Life Sciences and Biotechnology, Ferrara University, Via Fossato di
      Mortara 74, 44121, Ferrara, Italy.
FAU - Finotti, Alessia
AU  - Finotti A
AD  - Department of Life Sciences and Biotechnology, Ferrara University, Via Fossato di
      Mortara 74, 44121, Ferrara, Italy.
FAU - Gambari, Roberto
AU  - Gambari R
AUID- ORCID: http://orcid.org/0000-0001-9205-6033
AD  - Department of Life Sciences and Biotechnology, Ferrara University, Via Fossato di
      Mortara 74, 44121, Ferrara, Italy. [email protected]
AD  - Biotechnology Center, Ferrara University, Ferrara, Italy. [email protected]
LA  - eng
PT  - Journal Article
DEP - 20170829
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (LYAR protein, human)
RN  - 0 (Nuclear Proteins)
RN  - 0 (gamma-Globins)
RN  - 9034-63-3 (Fetal Hemoglobin)
SB  - IM
MH  - Binding Sites/genetics
MH  - DNA-Binding Proteins/metabolism
MH  - Female
MH  - Fetal Hemoglobin/*biosynthesis
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Male
MH  - Nuclear Proteins/metabolism
MH  - Point Mutation
MH  - *Polymorphism, Genetic
MH  - Sequence Analysis, DNA
MH  - beta-Thalassemia/*genetics
MH  - gamma-Globins/*genetics/metabolism
PMC - PMC5575872
OTO - NOTNLM
OT  - Agamma-globin gene polymorphism
OT  - Fetal hemoglobin
OT  - LYAR
OT  - beta-thalassemia
EDAT- 2017/08/31 06:00
MHDA- 2017/09/13 06:00
CRDT- 2017/08/31 06:00
PHST- 2015/12/16 [received]
PHST- 2017/08/14 [accepted]
AID - 10.1186/s12881-017-0450-3 [doi]
AID - 10.1186/s12881-017-0450-3 [pii]
PST - epublish
SO  - BMC Med Genet. 2017 Aug 29;18(1):93. doi: 10.1186/s12881-017-0450-3.