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

Context.—Identification of rare thalassemia variants requires a combination of multiple
diagnostic technologies. Objective.—To investigate a new approach of comprehensive …

Gap-polymerase chain reaction (PCR), reverse dot-blot assay (RDB), real-time PCR based
multicolor melting curve analysis (MMCA assay), multiplex ligation-dependent probe …

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

Context.—Recently, new technologies, such as next-generation sequencing and third-
generation sequencing, have been used in carrier screening of thalassemia. However, there …

Objective Thalassemia is a monogenic disorder with a high carrier rate in the southern
region of China. Most laboratories currently follow the protocol of testing hematologic …

Genetic hemoglobin disorders are caused by mutations and/or deletions in the α-globin or β-
globin genes. Thalassemia is caused by quantitative defects and hemoglobinopathies by …

Multiple molecular tests are currently needed for accurate carrier testing for thalassemia.
Therefore, long-molecule sequencing (LMS) was evaluated as an alternate on the PacBio …

Objectives Thalassemia is a highly prevalent monogenic inherited disease in southern
China. It is important to collect epidemiological data comprehensively for proper prevention …

During the last few years, next-generation sequencing (NGS) has undergone a rapid
transition from a research setting to a clinical application, becoming the method of choice in …