References for Specific Topics
Bauer DE, Orkin SH. Update on fetal hemoglobin gene regulation in hemoglobinopathies. Curr Opin Pediatr. 2011;23:1–8.
Ingram VM. Specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin. Nature. 1956;178:792–794.
Ingram VM. Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin. Nature. 1957;180:326–328.
Kervestin S, Jacobson A. NMD, a multifaceted response to premature translational termination. Nat Rev Mol Cell Biol. 2012;13:700–712.
Pauling L, Itano HA, Singer SJ, et al. Sickle cell anemia, a molecular disease. Science. 1949;110:543–548.
Sankaran VG, Lettre G, Orkin SH, et al. Modifier genes in Mendelian disorders: the example of hemoglobin disorders. Ann N Y Acad Sci. 2010;1214:47–56.
Steinberg MH, Sebastiani P. Genetic modifiers of sickle cell disease. Am J Hematol. 2012;87:795–803.
Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood. 2010;115:4331–4336.