A new unstable and low oxygen affinity hemoglobin variant: Hb Stanmore [beta 111(G13)Val----Ala].
Hb Stanmore is a new hemoglobin variant with the amino acid substitution beta 111(G13)Val----Ala. It is unstable and has a low oxygen affinity. The propositus (of Italian nationality) is a double-heterozygote for Hb Stanmore and beta(0)-thalassemia.
Como
P F
PF
Haematology Department, Royal Prince Alfred Hospital, Camperdown, N.S.W., Australia.
Wylie
B R
BR
Trent
R J
RJ
Bruce
D
D
Volpato
F
F
Wilkinson
T
T
Kronenberg
H
H
Holland
R A
RA
Tibben
E A
EA
D000328:Adult; D000595:Amino Acid Sequence; D000740:Anemia / Q000150:complications / Q000235:genetics*; D005260:Female; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000302:isolation & purification / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D010100:Oxygen / Q000378:metabolism; D010375:Pedigree; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000209:etiology; D013789:Thalassemia / Q000150:complications / Q000235:genetics; D013921:Thrombocytopenia / Q000150:complications / Q000235:genetics
D006455:Hemoglobins, Abnormal; C071128:hemoglobin Stanmore; D005914:Globins; D010100:Oxygen