TY - CHAP M1 - Book, Section TI - The Hemoglobinopathies A1 - Weatherall, Sir David J. A1 - Clegg, J. B. A1 - Higgs, D. R. A1 - Wood, W. G. A2 - Valle, David L. A2 - Antonarakis, Stylianos A2 - Ballabio, Andrea A2 - Beaudet, Arthur L. A2 - Mitchell, Grant A. PY - 2019 T2 - The Online Metabolic and Molecular Bases of Inherited Disease AB - McKusick (OMIM) numbers have been assigned to the various globin genes. The entries also document the allelic series that cause the corresponding hemoglobinopathies; the alleles are given numbers after the decimal point. The OMIM numbers are: alpha (α) locus-1 (141800); α locus-2 (141850); beta (B) locus (141900); gamma locus (142200); delta locus (142000); epsilon locus (142100) zeta locus (142310). Three hemoglobin variants that reach polymorphic frequencies in some populations are: HbC (141900.0038); HbE (141900.0071); HbS (141900.0243). HbM variants are numbered by locus and allele (e.g., HbMBOSTON (141800.0092), HbMHYDE PARK (141900.0164). The unstable Hb variants are also an allelic series, e.g., HbZURICH 141900.0310. HbF (Hereditary Persistence of Fetal Hb) (HPFH) is a separate entry (141790); as is HbH-related mental retardation, deletion type (141750). SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/03 UR - ommbid.mhmedical.com/content.aspx?aid=1181457081 ER -