RT Book, Section
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.
SR Print(0)
ID 1181457081
T1 The Hemoglobinopathies
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181457081
RD 2024/10/03
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).