Gene

Biology

Basis (linear algebra)

Hemoglobin

Biochemistry

Computer science

Computational biology

Intracellular

Globin

Genetics

Mathematics

Genotype

Internal medicine

Geometry

Medicine

Genetic disorder

Thalassemia

Disease

Phenotype

Hematology/Oncology Clinics of North America

Thalassemia is a disorder of hemoglobin characterized by reduced or absent production of one of the globin chains in human red blood cells with relative excess of the other. Impaired synthesis of β-globin results in β-thalassemia, whereas defective synthesis of α-globin leads to α-thalassemia. Despite being a monogenic disorder, thalassemia exhibits remarkable clinical heterogeneity that is directly related to the intracellular imbalance between α- and β-like globin chains. Novel insights into the genetic modifiers have contributed to the understanding of the correlation between genotype and phenotype and are being explored as therapeutic pathways to cure this life-limiting disease.

Molecular Basis and Genetic Modifiers of Thalassemia