familial erythrocytosis 6

info · Other

A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4.

Signs and symptoms

Increased circulating hemoglobin concentration
Increased hematocrit
Polycythemia

Also known as: ECYT6; beta-globin type erythrocytosis; beta-globin type polycythemia