PMID- 29182041
OWN - NLM
STAT- MEDLINE
DCOM- 20180801
LR  - 20180801
IS  - 1532-432X (Electronic)
IS  - 0363-0269 (Linking)
VI  - 41
IP  - 4-6
DP  - 2017 Jul-Nov
TI  - Characterization of Two Novel Deletions Involving the 5' Region of the beta-Globin 
      Gene.
PG  - 239-242
LID - 10.1080/03630269.2017.1397015 [doi]
AB  - We report two novel beta-thalassemia (beta-thal) deletions involving the 5' region of 
      the beta-globin gene (HBB). The first deletion spans 538 bp and removes the beta-globin 
      promoter, 5' untranslated region (5'UTR) and most of exon 1. This deletion was 
      identified in a 3-year-old Vietnamese boy with non transfusion dependent Hb E 
      (HBB: c.79G>A)/beta(0)-thal. The second deletion spans 1517 bp and removes the 
      beta-globin gene promoter, 5'UTR, and exons 1 and 2. This deletion was identified in 
      two unrelated adults of European descent who had beta-thal trait with unusually high 
      Hb A(2) levels. Deletions such as these are generally associated with higher 
      levels of Hb A(2) and Hb F than typical beta-thal alleles, which may ameliorate the 
      severity of the disease.
FAU - Waye, John S
AU  - Waye JS
AD  - a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , 
      Hamilton , ON , Canada.
AD  - b Department of Pathology and Molecular Medicine , McMaster University , Hamilton 
      , ON , Canada.
FAU - Hanna, Meredith
AU  - Hanna M
AD  - a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , 
      Hamilton , ON , Canada.
FAU - Hohenadel, Betty-Ann
AU  - Hohenadel BA
AD  - a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , 
      Hamilton , ON , Canada.
FAU - Nakamura, Lisa
AU  - Nakamura L
AD  - a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , 
      Hamilton , ON , Canada.
FAU - Walker, Lynda
AU  - Walker L
AD  - a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , 
      Hamilton , ON , Canada.
FAU - Eng, Barry
AU  - Eng B
AD  - a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , 
      Hamilton , ON , Canada.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20171128
PL  - England
TA  - Hemoglobin
JT  - Hemoglobin
JID - 7705865
RN  - 0 (3' Untranslated Regions)
RN  - 0 (beta-Globins)
SB  - IM
MH  - *3' Untranslated Regions
MH  - *Base Sequence
MH  - Child, Preschool
MH  - Female
MH  - Humans
MH  - Male
MH  - *Promoter Regions, Genetic
MH  - *Sequence Deletion
MH  - beta-Globins/*genetics
MH  - beta-Thalassemia/*genetics
OTO - NOTNLM
OT  - deletion
OT  - promoter
OT  - beta-Globin gene
EDAT- 2017/11/29 06:00
MHDA- 2018/08/02 06:00
CRDT- 2017/11/29 06:00
PHST- 2017/11/29 06:00 [pubmed]
PHST- 2018/08/02 06:00 [medline]
PHST- 2017/11/29 06:00 [entrez]
AID - 10.1080/03630269.2017.1397015 [doi]
PST - ppublish
SO  - Hemoglobin. 2017 Jul-Nov;41(4-6):239-242. doi: 10.1080/03630269.2017.1397015. 
      Epub 2017 Nov 28.