The hemoglobinopathies, molecular disease mechanisms and diagnostics

CL Harteveld, A Achour, SJG Arkesteijn… - International Journal …, 2022 - Wiley Online Library
Hemoglobinopathies are the most common monogenic disorders in the world with an ever
increasing global disease burden each year. As most hemoglobinopathies show recessive …

[PDF][PDF] Molecular basis and genetic modifiers of thalassemia

N Tesio, DE Bauer - Hematology/oncology clinics of North America, 2023 - Elsevier
Thalassemia syndromes are among the commonest monogenic disorders and represent a
substantial health burden worldwide. Here the authors have described globin genes …

Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review

SA Suhaimi, IN Zulkipli, H Ghani… - Frontiers in …, 2022 - frontiersin.org
Thalassemias are a group of inherited blood disorders that affects 5–7% of the world
population. Comprehensive screening strategies are essential for the management and …

Advances in screening of thalassaemia

J Gao, W Liu - Clinica Chimica Acta, 2022 - Elsevier
Thalassaemia is a common hereditary haemolytic anaemia. Mild cases of this disease may
be asymptomatic, while patients with severe thalassaemias require high-dose blood …

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

S Luo, X Chen, D Zeng, N Tang, D Yuan, B Liu… - Frontiers in …, 2022 - frontiersin.org
Conventional methods for the diagnosis of thalassemia include gap polymerase chain
reaction (Gap-PCR), reverse membrane hybridization (RDB), multiplex ligation-dependent …

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

X Chen, M Luo, L Pan, Y Huang, Z Yan, K Shen… - Clinica Chimica …, 2022 - Elsevier
Background Thalassemia is a common inherited haemoglobin disorder worldwide, several
methods have been utilized in the step-wise screening. Even though hundreds of mutations …

Application of targeted next-generation sequencing for the investigation of thalassemia in a developing country: A single center experience

RH Zulkeflee, R Bahar, M Abdullah, MAR Mohd Radzi… - Diagnostics, 2023 - mdpi.com
Thalassemia is identified as a prevalent disease in Malaysia, known to be one of the
developing countries. Fourteen patients with confirmed cases of thalassemia were recruited …

[HTML][HTML] A novel 15.8 kb deletion α-thalassemia confirmed by long-read single-molecule real-time sequencing: hematological phenotypes and molecular …

Z Zhong, G Zhong, Z Guan, D Chen, Z Wu, K Yang… - Clinical …, 2022 - Elsevier
Background Thalassemia is the most frequent recessive Mendelian inherited monogenic
disease worldwide, and is characterized by the impaired synthesis of globin chains due to …

Identification of a novel 91.5 kb-deletion (αα)FJ in the α-globin gene cluster using single-molecule real-time (SMRT) sequencing

L Xu, M Chen, J Zheng, S Zhang, M Zhang… - The Journal of …, 2023 - Taylor & Francis
Objectives To present a novel 91.5-kb deletion of the α-globin gene cluster (αα) FJ identified
by genetic assay and prenatal diagnosis in a Chinese family. Subjects and Methods The …

Global Globin Network and adopting genomic variant database requirements for thalassemia

H Halim-Fikri, NN Zulkipli, H Alauddin, C Bento… - Database, 2024 - academic.oup.com
Thalassemia is one of the most prevalent monogenic disorders in low-and middle-income
countries (LMICs). There are an estimated 270 million carriers of hemoglobinopathies …