Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia

A novel 4.9 Kb deletion at beta-globin gene is identified by the third-generation sequencing: Case report from Baoan, China

(2022) Xu Chen et al.   CLINICA CHIMICA ACTA

A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)

(2021) Qiaowei Liang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation

(2021) Shiqiang Luo et al.   JOURNAL OF HUMAN GENETICS

Long molecule sequencing: a new approach for identification of clinically significant DNA variants in alpha and beta thalassemia carriers

(2020) Liangpu Xu et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A novel 223 kb deletion in the beta‐globin gene cluster was identified in a Chinese thalassemia major patient

(2019) Fei Zhu et al.   International Journal of Laboratory Hematology

Thalassaemia

(2018) Ali T Taher et al.   LANCET

Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families

(2016) Lingling Hu et al.   MOLECULAR GENETICS AND GENOMICS

The Prevalence and Molecular Spectrum of α- and β-Globin Gene Mutations in 14,332 Families of Guangdong Province, China

(2014) Aihua Yin et al.   PLoS One

The Molecular Basis of  -Thalassemia

(2013) S. L. Thein   Cold Spring Harbor Perspectives in Medicine

A novel 506kb deletion causing εγδβ thalassemia

(2012) Helen Rooks et al.   BLOOD CELLS MOLECULES AND DISEASES

Development and evaluation of a reverse dot blot assay for the simultaneous detection of common alpha and beta thalassemia in Chinese

(2011) Min Lin et al.   BLOOD CELLS MOLECULES AND DISEASES