PMID- 23425204
OWN - NLM
STAT- MEDLINE
DCOM- 20130904
LR  - 20130308
IS  - 1532-432X (Electronic)
IS  - 0363-0269 (Linking)
VI  - 37
IP  - 2
DP  - 2013
TI  - Association in cis of the mutations +20 (C>T) in the 5' untranslated region and 
      IVS-II-745 (C>G) on the beta-globin gene.
PG  - 112-8
LID - 10.3109/03630269.2013.766620 [doi]
AB  - In the 5' untranslated region (5'UTR), which is transcribed but not translated 
      and is involved in posttranscriptional regulation of the gene promoting and 
      stabilizing the mRNA translation, several mutations associated with mild 
      beta-thalassemia (beta-thal) have been described. One of these, the +20 (C>T) mutation, 
      is described in the HbVar database as a mutation responsible for beta(+)-thal. In 
      heterozygote cases, it gives rise to a phenotype of beta-thal minor and beta-thal 
      intermediate (beta-TI) when the mutation is associated with beta(+) IVS-II-745 (C>G). 
      To clarify if this mutation is responsible for beta(+)-thal, we studied nine cases 
      where we found an association of the +20 and IVS-II-745 mutations. All patients 
      were carriers of four alpha genes. Three patients carried beta-thal major (beta-TM), two 
      were compound heterozygotes for IVS-II-745 and codon 8 (-AA) or codon 39 (C>T), 
      and the third was homozygous for IVS-II-745; all had the +20 mutation in the 
      5'UTR. The remaining patients showed the mutation IVS-II-745 associated with a 
      replacement of C>T at nucleotide (nt) +20 of the 5'UTR. Contrary to reports in 
      the HbVar database, the +20 mutation should be considered as an innocuous single 
      nt polymorphism associated with the IVS-II-745 mutation in cis.
FAU - Ropero, Paloma
AU  - Ropero P
AD  - Servicio de Hematologia, Hospital Clinico San Carlos de Madrid, Madrid, Spain. 
      propero.hcsc@salud.madrid.org
FAU - Gonzalez, Fernando A
AU  - Gonzalez FA
FAU - Cela, Elena
AU  - Cela E
FAU - Belendez, Cristina
AU  - Belendez C
FAU - Cervera, Aurea
AU  - Cervera A
FAU - Martinez-Nieto, Jorge
AU  - Martinez-Nieto J
FAU - de la Fuente-Gonzalo, Felix
AU  - de la Fuente-Gonzalo F
FAU - Vinuesa, Lara
AU  - Vinuesa L
FAU - Villegas, Ana
AU  - Villegas A
FAU - Diaz-Mediavilla, Joaquin
AU  - Diaz-Mediavilla J
LA  - eng
PT  - Journal Article
DEP - 20130221
PL  - England
TA  - Hemoglobin
JT  - Hemoglobin
JID - 7705865
RN  - 0 (5' Untranslated Regions)
RN  - 0 (beta-Globins)
SB  - IM
MH  - 5' Untranslated Regions/*genetics
MH  - Adult
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Family Health
MH  - Female
MH  - Humans
MH  - Introns/*genetics
MH  - Male
MH  - Middle Aged
MH  - Pedigree
MH  - *Point Mutation
MH  - Polymorphism, Single Nucleotide
MH  - Young Adult
MH  - beta-Globins/*genetics
MH  - beta-Thalassemia/diagnosis/*genetics
EDAT- 2013/02/22 06:00
MHDA- 2013/09/05 06:00
CRDT- 2013/02/22 06:00
PHST- 2013/02/22 06:00 [entrez]
PHST- 2013/02/22 06:00 [pubmed]
PHST- 2013/09/05 06:00 [medline]
AID - 10.3109/03630269.2013.766620 [doi]
PST - ppublish
SO  - Hemoglobin. 2013;37(2):112-8. doi: 10.3109/03630269.2013.766620. Epub 2013 Feb 
      21.