Functional properties of Hb-J Calabria, beta 64 (E8) Gly-Asp.
A young male from Apulia region (Southern Italy), heterozygous carrier of Hb-J Calabria (beta 64(E8) Gly-Asp), was described here. He showed mild polycythemia, and his whole blood dissociation curve for oxygen was clearly left-shifted, with a decreased p50. But these characteristics were not only due to the hyperaffinity of the abnormal pigment, accounting for about one third of the total Hb; in fact, also Hb-A, the main pigment present, had relative hyperaffinity. Nevertheless, this subject was completely symptomless, suggesting that the abnormal Hb was almost completely excluded from respiratory exchange and traveled always oxygenated also in the venous-capillary bed. However, the level reached by Hb-A furnished a satisfactory functional compensation against tissue hypoxia.
Rabino Massa
E
E
Dip. Biologia Animale, Univ. Torino.
Bonetti
G
G
Izzo
P
P
Bertello
P D
PD
Ricco
G
G
D000328:Adult; D005260:Female; D005998:Glycine; D006448:Hemoglobin J / Q000737:chemistry / Q000502:physiology*; D006453:Hemoglobinopathies / Q000378:metabolism; D006455:Hemoglobins, Abnormal / Q000378:metabolism; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008297:Male; D010100:Oxygen / Q000097:blood; D010108:Oxyhemoglobins / Q000378:metabolism; D011086:Polycythemia / Q000097:blood / Q000235:genetics*; D011487:Protein Conformation
D006455:Hemoglobins, Abnormal; D010108:Oxyhemoglobins; C060132:hemoglobin J Calabria; D006448:Hemoglobin J; D010100:Oxygen; D005998:Glycine