Moderate–severe beta‐thalassemia intermedia phenotype caused by sextuplicated alpha‐globin gene allele in two beta‐thalassemia carriers-Reference-Cited by-同舟云学术

Moderate–severe beta‐thalassemia intermedia phenotype caused by sextuplicated alpha‐globin gene allele in two beta‐thalassemia carriers

Published:2024-05-30 Issue:8 Volume:99 Page:1655-1658
ISSN:0361-8609
Container-title:American Journal of Hematology
language:en
Short-container-title:American J Hematol

Author:

Achour Ahlem¹²³^ORCID,Knijnenburg Jeroen¹,Koopmann Tamara¹,Raz Amir⁴,Tischkowitz Marc⁵,Coates Thomas D.⁶^ORCID,Baas F.¹,Harteveld C. L.¹

Affiliation:

1. Department of clinical genetics/LDGA Leiden University Medical Centre Leiden The Netherlands

2. Department of Congenital and Hereditary Diseases Charles Nicolle Hospital Tunis Tunisia

3. Laboratory of Human Genetics, Faculty of Medicine of Tunis University of Tunis El Manar Tunis Tunisia

4. Institute for Interdisciplinary Brain and Behavioral Sciences, Chapman University Irvine California USA

5. Department of Medical Genetics National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge Cambridge UK

6. Hematology Section, Cancer and Blood Disease Institute, Childrens Hospital Los Angeles, University of Southern California Los Angeles California USA

Funder

NIHR Cambridge Biomedical Research Centre

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajh.27386

Reference6 articles.

1. Ineffective Erythropoiesis inβ-Thalassemia

2. The hemoglobinopathies, molecular disease mechanisms and diagnostics

3. Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis

4. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

5. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome