scholarly journals Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new variety of beta+-thalassemia intermedia associated with delta degree- thalassemia

Blood ◽  
1986 ◽  
Vol 67 (4) ◽  
pp. 957-961 ◽  
Author(s):  
F Baklouti ◽  
E Dorleac ◽  
L Morle ◽  
P Laselve ◽  
D Peyramond ◽  
...  
Keyword(s):  
Oxygen Affinity ◽  
Hypochromic Anemia ◽  
Beta Thalassemia ◽  
Thalassemia Intermedia ◽  
Low Oxygen ◽  
Hemoglobin Variant ◽  
New Variety ◽  
Whole Cells ◽  
Chain Synthesis ◽  
Low Oxygen Affinity

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.

scholarly journals Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new variety of beta+-thalassemia intermedia associated with delta degree- thalassemia

Blood ◽  
1986 ◽  
Vol 67 (4) ◽  
pp. 957-961
Author(s):  
F Baklouti ◽  
E Dorleac ◽  
L Morle ◽  
P Laselve ◽  
D Peyramond ◽  
...  
Keyword(s):  
Oxygen Affinity ◽  
Hypochromic Anemia ◽  
Beta Thalassemia ◽  
Thalassemia Intermedia ◽  
Low Oxygen ◽  
Hemoglobin Variant ◽  
New Variety ◽  
Whole Cells ◽  
Chain Synthesis ◽  
Low Oxygen Affinity

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.

scholarly journals Hemoglobin Roseau-Pointe a Pitre α2β290 (F6) Glu → Gly: a new hemoglobin variant with slight instability and low oxygen affinity

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

Hemoglobin connecticut (β21(b3) Asp→Gly): A hemoglobin variant with low oxygen affinity

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

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 ◽  
...  
Keyword(s):  
Oxygen Affinity ◽  
Low Oxygen ◽  
Hemoglobin Variant ◽  
Low Oxygen Affinity

A New Unstable and Low Oxygen Affinity Hemoglobin Variant: Hb J-Auckland [β25(B7)Gly → Asp]

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

scholarly journals Hemoglobin presbyterian: β108 (G10) asparagine→lysine. A hemoglobin variant with low oxygen affinity

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 ◽  
...  
Keyword(s):  
Oxygen Affinity ◽  
Low Oxygen ◽  
Hemoglobin Variant ◽  
Low Oxygen Affinity

Misidentification of unstable, low oxygen affinity hemoglobin variant

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

A NEW UNSTABLE HEMOGLOBIN VARIANT WITH LOW OXYGEN AFFINITY: Hb ILMENAU [β41(C7)Phe→Cys]

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

scholarly journals beta-thalassemia intermedia in a Brazilian patient with - 101(C > T) and codon 39 (C > T) mutations

2003 ◽  
Vol 121 (1) ◽  
pp. 28-30
Author(s):  
Sylvia Morais de Sousa ◽  
Letícia Khater ◽  
Luís Antônio Peroni ◽  
Karine Miranda ◽  
Marcelo Jun Murai ◽  
...  
Keyword(s):  
Clinical Course ◽  
Globin Gene ◽  
Fetal Hemoglobin ◽  
Hypochromic Anemia ◽  
Beta Thalassemia ◽  
Beta Globin ◽  
Thalassemia Intermedia ◽  
Mean Cell Volume ◽  
Molecular Alterations ◽  
Brazilian Patient

CONTEXT: We verified molecular alterations in a 72-year-old Brazilian male patient with a clinical course of homozygous beta-thalassemia intermedia, who had undergone splenectomy and was surviving without regular blood transfusions. The blood cell count revealed microcytic and hypochromic anemia (hemoglobin = 6.5 g/dl, mean cell volume = 74 fl, mean cell hemoglobin = 24 pg) and hemoglobin electrophoresis showed fetal hemoglobin = 1.3%, hemoglobin A2 = 6.78% and hemoglobin A = 79.4%. OBJECTIVE: To identify mutations in a patient with the symptoms of beta-thalassemia intermedia. DESIGN: Molecular inquiry into the mutations possibly responsible for the clinical picture described. SETTING: The structural molecular biology and genetic engineering center of the Universidade Estadual de Campinas, Campinas, Brazil. PROCEDURES: DNA extraction was performed on the patient's blood samples. The polymerase chain reaction (PCR) was done using five specific primers that amplified exons and the promoter region of the beta globin gene. The samples were sequenced and then analyzed via computer programs. RESULTS: Two mutations that cause the disease were found: -101 (C > T) and codon 39 (C > T). CONCLUSIONS: This case represents the first description of 101 (C > T) mutation in a Brazilian population and it is associated with a benign clinical course.

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