Thalassemia refers to a group of inherited blood disorders in which the rate of hemoglobin production is diminished due to mutations in genes coding for the globin (protein) portion of the molecule. Since we inherit globin genes from both of our parents, an affected individual can either inherit the mutated gene from just one parent (known as heterozygous) or from both parents (homozygous). The defect can be due to a deletion or an inactivation of a globin chain gene.
Thalassemias are named according to the affected gene or globin chain which is showing reduced or absent synthesis. Globin chain gene loci are found on the following chromosome locations:
- Chromosome 11 (Beta, Delta, Epsilon, and Gamma)
- Chromosome 16 (Alpha, and Zeta)
