Germline mosaicism for an alanine to valine substitution at residue ? 140 in hemoglobin Puttelange, a new variant with high oxygen affinity

1995 ◽  
Vol 96 (6) ◽  
pp. 711-716 ◽  
Author(s):  
H. Wajcman ◽  
E. Girodon ◽  
D. Prom� ◽  
M.L. North ◽  
F. Plassa ◽  
...  
Keyword(s):  
Oxygen Affinity ◽  
High Oxygen ◽  
Germline Mosaicism ◽  
New Variant ◽  
High Oxygen Affinity

Hemoglobin British Columbia [α2β2101(G3)Glu→Lys] a New Variant with High Oxygen Affinity

Hemoglobin ◽  
1976 ◽  
Vol 1 (2) ◽  
pp. 171-182 ◽  
Author(s):  
Richard T. Jones ◽  
Bernadine Brimhall ◽  
George Gray
Keyword(s):  
British Columbia ◽  
Oxygen Affinity ◽  
High Oxygen ◽  
New Variant ◽  
High Oxygen Affinity

Hemoglobin fort gordon or α2β2145 Tyr → Asp, a new high-oxygen-affinity hemoglobin variant

1975 ◽  
Vol 400 (2) ◽  
pp. 343-347 ◽  
Author(s):  
H.B. Kleckner ◽  
J.B. Wilson ◽  
J.G. Lindeman ◽  
P.D. Stevens ◽  
G. Niazi ◽  
...  
Keyword(s):  
Oxygen Affinity ◽  
High Oxygen ◽  
Hemoglobin Variant ◽  
High Oxygen Affinity

Unusual finding of high oxygen affinity haemoglobinopathy treated with phlebotomy: a rare but predictable union

2021 ◽  
pp. 103290
Author(s):  
Epifania Rita Testa ◽  
Adriana Masotti ◽  
Patrizia Valeri ◽  
Luciana Geremia ◽  
Valeria Brunetta ◽  
...  
Keyword(s):  
Oxygen Affinity ◽  
High Oxygen ◽  
High Oxygen Affinity ◽  
Unusual Finding

scholarly journals Haemoglobin Olympia {β Codon 20 (B2) G→A, Val→Met}: A Silent Haemoglobin Variant

2021 ◽  
Author(s):  
Abhay A Bhave ◽  
Lakshmi Iyer ◽  
Nawal Kazi ◽  
Manju Gorivale ◽  
Anita Nadkarni
Keyword(s):  
High Performance ◽  
Extended Family ◽  
Globin Gene ◽  
Oxygen Affinity ◽  
High Oxygen ◽  
Cerebral Vessel ◽  
Haemoglobin Variant ◽  
First Case ◽  
History Of ◽  
High Oxygen Affinity

High oxygen affinity haemoglobin variants are rare and often underdiagnosed in persistent erythrocytosis with no apparent aetiology. Here the author present a 29-year-old Indian male patient with a long-standing history of erythrocytosis which was incidentally detected. The proband had a prothrombotic family history of cerebral vessel stroke in his paternal grandfather at a young age and unexplained erythrocytosis in his father and brother. A review of his haemograms showed persistent high haemoglobin values. Routine tests did not reveal any specific aetiology and haemoglobin electrophoresis by High-Performance Liquid Chromatography (HPLC) showed absence of any abnormal peak or unstable haemoglobin. DNA sequencing of the β globin gene revealed heterozygosity for codon 20 {GTG→ATG, Valine (Val)→ Methionine (Met)} mutation confirming the presence of an electrophoretically silent Hb variant - Haemoglobin Olympia in him and his extended family members. This case study emphasises importance of this rare entity of high oxygen affinity haemoglobin variant as a differential diagnosis while screening for erythrocytosis. This is the first case report of Haemoglobin Olympia from India reported in the literature.

scholarly journals A Newly Characterized Hemoglobin Variant with a High Oxygen Affinity, Hb Fuchu-II, Presenting with Acute Myocardial Infarction

2016 ◽  
Vol 55 (3) ◽  
pp. 285-287
Author(s):  
Raku Son ◽  
Takakazu Higuchi ◽  
Atsushi Mizuno ◽  
Ryosuke Koyamada ◽  
Sadamu Okada ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Oxygen Affinity ◽  
High Oxygen ◽  
Hemoglobin Variant ◽  
High Oxygen Affinity

Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G]

Hemoglobin ◽  
2020 ◽  
Vol 44 (1) ◽  
pp. 10-12
Author(s):  
Ibrahim Al Nabhani ◽  
John C. Aneke ◽  
Madeleine Verhovsek ◽  
Barry Eng ◽  
Kevin H.M. Kuo ◽  
...  
Keyword(s):  
Oxygen Affinity ◽  
High Oxygen ◽  
Hemoglobin Variant ◽  
High Oxygen Affinity

scholarly journals Hemoglobin Crete (beta 129 ala leads to pro): a new high-affinity variant interacting with beta o -and delta beta o -thalassemia

Blood ◽  
1979 ◽  
Vol 54 (1) ◽  
pp. 54-63 ◽  
Author(s):  
A Maniatis ◽  
T Bousios ◽  
RL Nagel ◽  
T Balazs ◽  
Y Ueda ◽  
...  
Keyword(s):  
Cell Morphology ◽  
Clinical Picture ◽  
Oxygen Affinity ◽  
High Oxygen ◽  
Red Cell ◽  
High Affinity ◽  
Contact Sites ◽  
Erythroid Hyperplasia ◽  
Proline Substitution ◽  
High Oxygen Affinity

Abstract Hemoglobin Crete, beta129 (h7)ala leads to pro, is a new mutant hemoglobin (Hb) with high oxygen affinity that was discovered in a Greek family in various combinations with beta- and deltabeta- thalassemia. The propositus, who presented an unusual clinical picture of an “overcompensated” hemolytic state, with erythrocytosis, splenomegaly, abnormal red cell morphology, and marked erythroid hyperplasia, appeared doubly heterozygous for Hb Crete and deltabeta- thalassemia. His red cells contained 67% Hb Crete and 30% Hb F, and the combination of these two hemoglobins resulted in a blood P50O2 of 11.2 mm Hg. A brother with Hb Crete trait (38% Hb Crete, 56% Hb A, blood P50O2 23.0 mm Hg) did not have significant erythrocytosis. Purified Hb Crete was heat-unstable and exhibited a high oxygen affinity, and a normal Bohr effect. We postulate that the beta 129 proline substitution disrupts the H helix, perturbing nearby residues involved in alpha 1 beta 1 contact sites of the Hb tetramer.

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