Alpha-and β-thalassemias and abnormal hemoglobin (Hb) are common in tropical countries.
These abnormal globin genes in different combinations lead to many thalassemic diseases …

Thalassemia is one of the most heterogeneous diseases, with more than a thousand
mutation types recorded worldwide. Molecular diagnosis of thalassemia by conventional …

Importance Newborn screening via biochemical tests is in use worldwide. The availability of
genetic sequencing has allowed rapid screening for a substantial number of monogenic …

The aim of the study was to assess the clinical utility of a third-generation sequencing (TGS)
approach termed comprehensive analysis of thalassemia alleles (CATSA) for identifying …

To compare single-molecule real-time technology (SMRT) and conventional genetic
diagnostic technology of rare types of thalassemia mutations, and to analyze the molecular …

Background The aim is to evaluate the clinical utility of a long-read sequencing-based
approach termed comprehensive analysis of thalassemia alleles (CATSA) in prenatal …

Thalassemia is a group of common hereditary anemias that cause significant morbidity and
mortality worldwide. However, precisely diagnosing thalassemia, especially rare …

Hemoglobinopathies are the most common single-gene disorders in the world. Their
prevalence is predicted to increase in the future, and low-income hemoglobinopathy …

Hemoglobin (Hb) abnormalities, such as thalassemia and structural Hb variants, are among
the most prevalent inherited diseases and are associated with significant mortality and …

Purpose Improved resolution of molecular diagnostic technologies enabled detection of
smaller sized exonic level copy-number variants (CNVs). The contribution of CNVs to …