Abstract
AbstractHemoglobin Crete, β129 (H7) ala —► pro, is a new mutant bemoglobin (Hb) with high oxygen affinity that was discovered in a Greek family in various combinations with β° and δβ°-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 δβ°-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, moderately decreased cooperativity, and a normal Bohr effect. We postulate that the 0129 proline substitution disrupts the H helix, perturbing nearby residues involved in α1β1, contact sites of the Hb tetramer.
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