familial erythrocytosis 7

info · Other

A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3.

Signs and symptoms

Increased circulating hemoglobin concentration
Increased hematocrit
Polycythemia

Also known as: ECYT7; alpha-globin type erythrocytosis; alpha-globin type polycythemia