Abstract β-Thalassemia is caused by reduced (β+) or absent (β 0) synthesis of the β-globin
chains of hemoglobin. Three clinical and hematological conditions of increasing severity are …

Abstract α-Thalassemia is an inherited, autosomal recessive, disorder characterized by a
microcytic hypochromic anemia. It is one of the most common monogenic gene disorders in …

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological
variants and causative genes for more than half such disorders remain to be discovered …

Anemia in astronauts has been noted since the first space missions, but the mechanisms
contributing to anemia in space flight have remained unclear. Here, we show that space …

The α-Thalassemias | New England Journal of Medicine Skip to main content The New
England Journal of Medicine homepage Advanced Search SEARCH SPECIALTIES Cardiology …

Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening
infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic …

Inherited haemoglobinopathies are the most common monogenic diseases, with millions of
carriers and patients worldwide. At present, we know several hundred disease-causing …

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 …

Abstract HbVar (http://globin. bx. psu. edu/hbvar) is a widely-used locus-specific database
(LSDB) launched 20 years ago by a multi-center academic effort to provide timely …

Until recently our approach to analyzing human genetic diseases has been to accurately
phenotype patients and sequence the genes known to be associated with those …