The remarkable phenotypic diversity of β thalassemia that range from severe anemia and
transfusion-dependency, to a clinically asymptomatic state exemplifies how a spectrum of …

Abstract β-thalassemia is a hereditary hematological disease caused by over 350 mutations
in the β-globin gene (HBB). Identifying the genetic variants affecting fetal hemoglobin (HbF) …

Hemoglobinopathies are among the most common autosomal-recessive disorders
worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate …

We report genome-wide association study results for the levels of A1, A2 and fetal
hemoglobins, analyzed for the first time concurrently. Integrating high-density array …

Abstract β-thalassemia and sickle cell disease (SCD) are prototypical Mendelian single
gene disorders, both caused by mutations affecting the adult β-globin gene. Despite the …

Beta-thalassemia (β-thalassemia) is characterized by reduced synthesis of the hemoglobin
subunit beta (hemoglobin beta chain) that results in microcytic hypochromic anemia, an …

Mutation is a permanent alteration in the sequence of genomic DNA which its integrity and
stability is crucial for all living organism. Recognition of these mutations gives the …

Fetal hemoglobin (HbF) is a strong modifier of sickle cell disease (SCD) severity and is
associated with 3 common genetic loci. Quantifying the genetic effects of the 3 loci would …

Sickle cell disease (SCD) and β-thalassemia are among the most common inherited
diseases, affecting millions of persons globally. It is estimated that 5–7% of the world's …

Sickle cell disease and β thalassemia are common severe diseases with little effective
pathophysiologically-based treatment. Their phenotypic heterogeneity prompted genomic …