(Hemoglobin Galliera Genova, Hemoglobin Hyogo)

Only a few cases described. Unstable hemoglobin characterized by the substitution of proline for leucine 28 on the β chain following a sporadic mutation (or autosomal dominant transmission) of the HBB gene (11p15.4). This mutation alters the helical structure of hemoglobin, making it more fragile and increasing its affinity for O2.

A diagnosis of hereditary spherocytosis (see this term) or iron-deficiency anemia is often made in error, as the diffusion of this hemoglobin in electrophoresis is normal. When associated with heterozygosity for beta thalassemia, the clinical presentation is that of severe beta-thalassemia.

Diagnosis:

-        chronic hemolytic anemia with reticulocytosis, Heinz bodies (precipitation of mutated chains that bind with difficulty) in mature red blood cells,

-        moderate hyperbilirubinemia,

-        cholelithiasis

Treatment: transfusion in case of severe anemia, splenectomy.

Anesthetic implications:

check hemoglobin level.

References :

-        Hopmeier P, Binder C, Gadner H, Fisher M.
A case of the unstable Hb Genova (â28 Leu → Pro) in an Arab child associated with severe haemolytic anaemia and growth retardation.
Acta Haematol 1990; 83: 39–41

Updated: December 2024