Non–transfusion-dependent β-Thalassemia Because of a Single β-Thalassemia Mutation and Coinherited α-Globin Gene Triplication: Need for Increased Awareness to Prevent Incorrect and Delayed Diagnosis

Author:

Gurunathan Arun,Tarango Cristina,McGann Patrick T.,Niss Omar,Quinn Charles T.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Oncology,Hematology,Pediatrics, Perinatology, and Child Health

Reference12 articles.

1. Molecular characterization of thalassemia intermedia, due to co-inheritance of homozygous alpha triplication and IVSI-5 beta-thalassemia;Fallah;Blood Cells Mol Dis,2009

2. Whole-exome sequencing identifies an alpha-globin cluster triplication resulting in increased clinical severity of beta-thalassemia;Steinberg-Shemer;Cold Spring Harbor Mol Case Stud,2017

3. Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis;Clark;Br J Haematol,2018

4. Effect of alpha-gene numbers on phenotype of HbE/beta thalassemia patients;Sharma;Ann Hematol,2009

5. A family with segregating triplicated alpha globin loci and beta thalassemia;Galanello;Blood,1983

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