Thalassemia syndromes are among the most serious and common genetic conditions. They
are indigenous in a wide but specific geographical area. However, through migration they …

Sickle cell trait (SCT) is unique among the carrier states that are identified during newborn
screening. Unlike other heterozygous states for rare recessive diseases, SCT is exceedingly …

This document of the European Society of Human Genetics contains recommendations
regarding responsible implementation of expanded carrier screening. Carrier screening is …

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 …

This systematic literature review assessed the global prevalence and birth prevalence of
clinically significant forms of alpha‐and beta‐thalassemia. Embase, MEDLINE, and the …

Background: β-Thalassaemia is a common genetic blood disorder in the Middle Eastern
region. Mandatory premarital screening and genetic counselling (PMSGC) programmes are …

Screening for rare diseases first began more than 50 years ago with neonatal bloodspot
screening (NBS) for phenylketonuria, and carrier screening for Tay-Sachs disease, sickle …

Objective To reveal the familial prevalence and molecular variation of α-and β-globin gene
mutations in Guangdong Province. Methods A total of 40,808 blood samples from 14,332 …

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 …

Purpose We performed a systematic review of the ethical, social, and cultural issues
associated with delivery of genetic services in low-and middle-income countries (LMICs) …