Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China

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

Detection of four rare thalassemia variants using Single-molecule realtime sequencing

(2022) Shiqiang Luo et al.   Frontiers in Genetics

A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies

(2022) Anna Minaidou et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read Sequencing

(2021) Aruna Rangan et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Molecular characterization of hemoglobinopathies and thalassemias in Northern Guangdong Province, China

(2021) Zhanzhong Ma et al.   MEDICINE

Shared molecular basis, diagnosis, and co-inheritance of alpha and beta thalassemia

(2021) Govinda Khatri et al.   Blood Research

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

Prenatal and preimplantation diagnosis of hemoglobinopathies

(2018) C. Vrettou et al.   International Journal of Laboratory Hematology

Thalassaemia

(2018) Ali T Taher et al.   LANCET

Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

(2018) Simon Ardui et al.   NUCLEIC ACIDS RESEARCH

Thalassemia in the laboratory: pearls, pitfalls, and promises

(2018) Gunay Aliyeva et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Occurrence of the – –SEA, – –THAIand – –FILα-Thalassemia-1 Carriers from a 7-Year Study at Ramathibodi Hospital, Bangkok, Thailand

(2016) Kobkorn Pongjantharasatien et al.   HEMOGLOBIN

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

(2015) Joanne Traeger-Synodinos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The spectrum of α- and β-thalassemia mutations of the Li people in Hainan Province of China

(2014) Hongxia Yao et al.   BLOOD CELLS MOLECULES AND DISEASES

High prevalence of thalassemia in migrant populations in Guangdong Province, China

(2014) Bing Li et al.   BMC PUBLIC HEALTH

The α-Thalassemias

(2014) Frédéric B. Piel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prenatal diagnosis of β-thalassemia in Guangxi Zhuang Autonomous Region, China

(2013) Sheng He et al.   ARCHIVES OF GYNECOLOGY AND OBSTETRICS

Molecular Spectrum of α- and β-Globin Gene Mutations Detected in the Population of Guangxi Zhuang Autonomous Region, People's Republic of China

(2011) Chen-Guang Zheng et al.   HEMOGLOBIN

α-thalassaemia

(2010) Cornelis L Harteveld et al.   Orphanet Journal of Rare Diseases