Adult‐onset beta‐thalassaemia intermedia caused by a 5‐Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β‐globin locus-Reference-Cited by-同舟云学术

Adult‐onset beta‐thalassaemia intermedia caused by a 5‐Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β‐globin locus

Published:2019-06-17 Issue:6 Volume:186 Page:
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Traeger‐Synodinos Joanne¹,Bosch Cathy A. J.²,Vrettou Christina¹,Maragoudaki Lena¹,Apostolidis Janos³,Kanavakis Emmanuel⁴,Kattamis Christos⁵,Arkesteijn Sandra G. J.²,Hoffer Mariëtte J. V.²,Ruivenkamp Claudia A. L.²,Harteveld Cornelis L.²^ORCID

Affiliation:

1. Department of Medical Genetics National & Kapodistrian University of Athens, St. Sophia’s Children’s Hospital Athens Greece

2. Department of Clinical Genetics/LDGA Leiden University Medical Centre Leiden the Netherlands

3. Department of Haematology and Bone Marrow Transplantation Evangelismos Hospital Athens Greece

4. Genesis Genoma Laboratory Athens Greece

5. National & Kapodistrian University of Athens, St. Sophia’s Children’s Hospital Athens Greece

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.16043

Reference8 articles.

1. A novel mechanism for thalassaemia intermedia

2. A haplotype-linked four base pair deletion upstream of the A? globin gene coincides with decreased gene expression

3. thalassemia major due to acquired uniparental disomy in a previously healthy adolescent

4. -thalassemia major evolution from -thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15

5. Somatic deletion of the normal β-globin gene leading to thalassaemia intermedia in heterozygous β-thalassaemic patients

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