A remarkable case of HbH disease illustrates the relative contributions of the α-globin enhancers to gene expression

Mohsin Badat; James O J Davies; Christopher A Fisher; Damien J Downes; Anna Rose; Andreas B Glenthøj; Eduard J van Beers; Cornelis L Harteveld; Douglas R Higgs

doi:10.1182/blood.2020006680

A remarkable case of HbH disease illustrates the relative contributions of the α-globin enhancers to gene expression

Mohsin Badat
, James O J Davies
, Christopher A Fisher
, Damien J Downes
, Anna Rose
, Andreas B Glenthøj
, Eduard J van Beers
, Cornelis L Harteveld
, Douglas R Higgs

10 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	Blood
Vol/bind	137
Udgave nummer	4
Sider (fra-til)	572-575
Antal sider	4
ISSN	0006-4971
DOI	https://doi.org/10.1182/blood.2020006680
Status	Udgivet - 28 jan. 2021

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10.1182/blood.2020006680

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Citationsformater

@article{e8b9df6b7b7a4937af43f061b2193444,

title = "A remarkable case of HbH disease illustrates the relative contributions of the α-globin enhancers to gene expression",

keywords = "Adult, Alleles, Chromatin/genetics, Chromosomes, Human, Pair 16/genetics, Enhancer Elements, Genetic, Erythroblasts/pathology, Erythropoiesis, Female, Gene Deletion, Gene Expression Regulation, Genotype, Hemoglobin E/genetics, Hemoglobin H/analysis, Humans, Male, Pedigree, RNA, Messenger/biosynthesis, Sequence Deletion, Suriname/ethnology, alpha-Globins/biosynthesis, alpha-Thalassemia/blood, beta-Globins/genetics",

author = "Mohsin Badat and Davies, \{James O J\} and Fisher, \{Christopher A\} and Downes, \{Damien J\} and Anna Rose and Glenth{\o}j, \{Andreas B\} and \{van Beers\}, \{Eduard J\} and Harteveld, \{Cornelis L\} and Higgs, \{Douglas R\}",

year = "2021",

month = jan,

day = "28",

doi = "10.1182/blood.2020006680",

language = "English",

volume = "137",

pages = "572--575",

journal = "Blood",

issn = "0006-4971",

publisher = "Dove Medical Press Ltd",

number = "4",

}

TY - JOUR

T1 - A remarkable case of HbH disease illustrates the relative contributions of the α-globin enhancers to gene expression

AU - Badat, Mohsin

AU - Davies, James O J

AU - Fisher, Christopher A

AU - Downes, Damien J

AU - Rose, Anna

AU - Glenthøj, Andreas B

AU - van Beers, Eduard J

AU - Harteveld, Cornelis L

AU - Higgs, Douglas R

PY - 2021/1/28

Y1 - 2021/1/28

KW - Adult

KW - Alleles

KW - Chromatin/genetics

KW - Chromosomes, Human, Pair 16/genetics

KW - Enhancer Elements, Genetic

KW - Erythroblasts/pathology

KW - Erythropoiesis

KW - Female

KW - Gene Deletion

KW - Gene Expression Regulation

KW - Genotype

KW - Hemoglobin E/genetics

KW - Hemoglobin H/analysis

KW - Humans

KW - Male

KW - Pedigree

KW - RNA, Messenger/biosynthesis

KW - Sequence Deletion

KW - Suriname/ethnology

KW - alpha-Globins/biosynthesis

KW - alpha-Thalassemia/blood

KW - beta-Globins/genetics

UR - https://www.scopus.com/pages/publications/85099917293

U2 - 10.1182/blood.2020006680

DO - 10.1182/blood.2020006680

M3 - Letter

C2 - 33113553

SN - 0006-4971

VL - 137

SP - 572

EP - 575

JO - Blood

JF - Blood

IS - 4

ER -