Literature DB >> 27469621

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

Barnaby Clark1,2, Claire Shooter2, Frances Smith1, David Brawand1, Laura Steedman1, Matthew Oakley1, Peter Rushton1, Helen Rooks2, Xunde Wang3, Anthi Drousiotou4, Andriani Kyrri4, Michael Hadjigavriel4, Andrew Will5, Chris Fisher6, Douglas R Higgs6, Marion Phylipsen7, Cornelis Harteveld7, Marina Kleanthous8, Swee Lay Thein2,3.   

Abstract

Entities:  

Keywords:  alpha globin (HBA) gene duplications; next generation sequencing; non-transfusion dependent thalassaemia

Mesh：

Substances：

Year:  2016        PMID： 27469621     DOI： 10.1111/bjh.14294

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  7 in total

Review 1.  Molecular basis of β thalassemia and potential therapeutic targets.

Authors:  Swee Lay Thein
Journal:  Blood Cells Mol Dis       Date:  2017-06-20       Impact factor: 3.039

2.  Alpha Globin Gene Copy Number Is Associated with Prevalent Chronic Kidney Disease and Incident End-Stage Kidney Disease among Black Americans.

Authors:  A Parker Ruhl; Neal Jeffries; Yu Yang; Rakhi P Naik; Amit Patki; Lydia H Pecker; Bryan T Mott; Neil A Zakai; Cheryl A Winkler; Jeffrey B Kopp; Leslie A Lange; Marguerite R Irvin; Orlando M Gutierrez; Mary Cushman; Hans C Ackerman
Journal:  J Am Soc Nephrol       Date:  2021-10-27       Impact factor: 10.121

3.  Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia.

Authors:  Orna Steinberg-Shemer; Jacob C Ulirsch; Sharon Noy-Lotan; Tanya Krasnov; Dina Attias; Orly Dgany; Ruth Laor; Vijay G Sankaran; Hannah Tamary
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-11-21

4.  Evaluation of intervention strategy of thalassemia for couples of childbearing ages in Centre of Southern China.

Authors:  Fan Jiang; Liandong Zuo; Jian Li; Guilan Chen; Xuewei Tang; Jianying Zhou; Yanxia Qu; Dongzhi Li; Can Liao
Journal:  J Clin Lab Anal       Date:  2021-09-07       Impact factor: 2.352

5.  Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.

Authors:  Petros Kountouris; Coralea Stephanou; Carsten W Lederer; Joanne Traeger-Synodinos; Celeste Bento; Cornelis L Harteveld; Eirini Fylaktou; Tamara T Koopmann; Hashim Halim-Fikri; Kyriaki Michailidou; Landry E Nfonsam; John S Waye; Bin A Zilfalil; Marina Kleanthous
Journal:  Hum Mutat       Date:  2021-09-24       Impact factor: 4.700

Review 6.  The hemoglobinopathies, molecular disease mechanisms and diagnostics.

Authors:  Cornelis L Harteveld; Ahlem Achour; Sandra J G Arkesteijn; Jeanet Ter Huurne; Maaike Verschuren; Sharda Bhagwandien-Bisoen; Rianne Schaap; Linda Vijfhuizen; Hakima El Idrissi; Tamara T Koopmann
Journal:  Int J Lab Hematol       Date:  2022-09       Impact factor: 3.450

7.  Three Mexican Families with β thalassemia intermedia with different molecular basis.

Authors:  Lourdes Del Carmen Rizo de la Torre; Francisco Javier Perea Díaz; Bertha Ibarra Cortés; Víctor Manuel Rentería López; Josefina Yoaly Sánchez López; Francisco Javier Sánchez Anzaldo; María Teresa Magaña Torres; Katia Gonnet; Catherine Badens; Nathalie Bonello-Palot
Journal:  Genet Mol Biol       Date:  2020-02-03       Impact factor: 1.771
  7 in total

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