TY - CHAP M1 - Book, Section TI - The Sickle Cell Diseases and Other Hemoglobinopathies A1 - Lichtman, Marshall A. A1 - Kaushansky, Kenneth A1 - Prchal, Josef T. A1 - Levi, Marcel M. A1 - Burns, Linda J. A1 - Linch, David C. Y1 - 2022 N1 - T2 - Williams Manual of Hematology, 10e AB - The molecular biology of hemoglobinopathies is well understood, but clinical progress in treatment has been limited. The vast majority of hemoglobinopathies are the result of single-nucleotide substitutions in the α, β, δ, or γ chains within the hemoglobin (Hb) tetramer.Hb variants are designated by letters of the alphabet, but after the letters of the alphabet were exhausted, newly identified variants were named according to the place in which they were first found (eg, Hb Zurich). If they had a particular feature previously described by a letter, the location was added as a subscript (eg, HbMSaskatoon).In a fully characterized Hb variant, the amino acid position and change are described in a superscript to the appropriate globin chain (eg, HbS, α2 β26Glu-Val). SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - hemonc.mhmedical.com/content.aspx?aid=1189333295 ER -