Fig. 1
From: Advances in the diagnosis and treatment of sickle cell disease
Genetic and molecular basis of sickle cell disease. SCD is caused by mutations in the β globin gene, located on the β globin locus found on the short arm of chromosome 11. The homozygous inheritance of Hb S or co-inheritance of Hb S with the β0 thalassemia mutation results in the most common forms of severe SCD. Co-inheritance of Hb S with other variants such as Hb C, Hb D-Los Angeles/Punjab, Hb O-Arab or β+ thalassemia also leads to clinically significant sickling syndromes (LCR, locus control region; HS, hypersensitivity site)