Hb Brie Comte Robert [β36(C2)Pro→Ala]: A New Hemoglobin Variant with High Oxygen Affinity and Marked Hydrophobic Properties

Abstract

Hb Brie Comte Robert, named for the place were the carrier resides, was found in a French Caucasian male, 36-year-old, presenting with polycythemia. The hematological data of the proband were as follows: RBC 5.74 × 10¹²/L (normal range 5.0 ± 0.5 × 10¹²/L), Hb (hemoglobin) 18.6 g/dL (normal range 15.0 ± 0.5 g/dL), PCV 0.543 L/L, MCV 94.6 fL, MCH 32.4 pg. The red cell mass was increased by approximately 20%. In contrast, the leukocyte and platelet counts were normal at 6.3 × 10⁹/L and 220 × 10⁹/L, respectively. Study of other members of the proband's family was not possible.