Compound heterozygosity for two beta chain variants: Hb S [beta 6(A3)Glu-->Val] and the high affinity variant Hb San Diego [beta 109(G11)Val-->Met].
Williamson
D
D
Department of Haematology, University of Cambridge, England.
Perry
D J
DJ
Brown
K
K
Langdown
J V
JV
de Silva
C
C
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA; D005260:Female; D006580:Genetic Carrier Screening; D006451:Hemoglobin, Sickle / Q000032:analysis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation
D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; C028906:hemoglobin San Diego; D004247:DNA