A New Unstable and Low Oxygen Affinity Hemoglobin Variant: HB Stanmore [B111 (G13)VAL→ALA]

Hemoglobin ◽  
1991 ◽  
Vol 15 (1-2) ◽  
pp. 53-65 ◽  
Author(s):  
P. F. Como ◽  
B. R. Wylie ◽  
R. J. Trent ◽  
D. Bruce ◽  
F. Volpato ◽  
...  
Blood ◽  
1986 ◽  
Vol 67 (4) ◽  
pp. 957-961
Author(s):  
F Baklouti ◽  
E Dorleac ◽  
L Morle ◽  
P Laselve ◽  
D Peyramond ◽  
...  

Abstract Hb Knossos (beta 27 (B9) Ala----Ser) is a recently discovered hemoglobin variant endowed with beta-thalassemic properties (1,2) We present the first homozygous cases. The propositus, a 19-year-old man is originally from northeast Algeria, but is unrelated to other Algerians who have hemoglobin Knossos. He has a beta+-thalassemia intermedia syndrome, including microcytic, hypochromic anemia, enlargement of the spleen, and an increase in the number of reticulocytes. The reduction of beta-chain synthesis is pronounced (alpha/non alpha:2.76). Whole cells containing Hb Knossos have a dramatically low oxygen affinity (P50:38 mm Hg). The propositus also has homozygous delta degrees-thalassemia. The chromosome carrying these mutations is characterized by the DNA haplotype I.


FEBS Letters ◽  
1985 ◽  
Vol 184 (1) ◽  
pp. 10-13 ◽  
Author(s):  
G. Merault ◽  
L. Keclard ◽  
C. Saint-Martin ◽  
K. Jasmin ◽  
A. Campier ◽  
...  

1981 ◽  
Vol 11 (2) ◽  
pp. 137-145 ◽  
Author(s):  
W. F. Moo-Penn ◽  
P. McPhedran ◽  
S. Bobrow ◽  
M. H. Johnson ◽  
D. L. Jue ◽  
...  

Blood ◽  
1986 ◽  
Vol 67 (4) ◽  
pp. 957-961 ◽  
Author(s):  
F Baklouti ◽  
E Dorleac ◽  
L Morle ◽  
P Laselve ◽  
D Peyramond ◽  
...  

Hb Knossos (beta 27 (B9) Ala----Ser) is a recently discovered hemoglobin variant endowed with beta-thalassemic properties (1,2) We present the first homozygous cases. The propositus, a 19-year-old man is originally from northeast Algeria, but is unrelated to other Algerians who have hemoglobin Knossos. He has a beta+-thalassemia intermedia syndrome, including microcytic, hypochromic anemia, enlargement of the spleen, and an increase in the number of reticulocytes. The reduction of beta-chain synthesis is pronounced (alpha/non alpha:2.76). Whole cells containing Hb Knossos have a dramatically low oxygen affinity (P50:38 mm Hg). The propositus also has homozygous delta degrees-thalassemia. The chromosome carrying these mutations is characterized by the DNA haplotype I.


Hemoglobin ◽  
1987 ◽  
Vol 11 (3) ◽  
pp. 221-230 ◽  
Author(s):  
D. Williamson ◽  
R. M.G. Wells ◽  
R. Anderson ◽  
J. Matthews

FEBS Letters ◽  
1978 ◽  
Vol 92 (1) ◽  
pp. 53-56 ◽  
Author(s):  
Winston F. Moo-Penn ◽  
James A. Wolff ◽  
Gilbert Simon ◽  
Marie Vaček ◽  
Danny L. Jue ◽  
...  

2020 ◽  
Vol 509 ◽  
pp. 177-179
Author(s):  
Joanna Jung ◽  
Emily Garnett ◽  
Beverley Vispo ◽  
Xinpu Chen ◽  
Jing Cao ◽  
...  

Hemoglobin ◽  
2002 ◽  
Vol 26 (2) ◽  
pp. 169-174 ◽  
Author(s):  
Claude Préhu ◽  
Lütje J. Behnken ◽  
Rüdiger Neumann ◽  
Jean Riou ◽  
Jean Kister ◽  
...  

Hemoglobin ◽  
1994 ◽  
Vol 18 (4-5) ◽  
pp. 285-295 ◽  
Author(s):  
K. Krishnan ◽  
F. Martinez ◽  
R. T. Wille ◽  
R. T. Jones ◽  
D. T. Shin ◽  
...  

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