A rare hemoglobinopathy characterized by variable degrees of hemolytic anemia depending on the nature of the hemoglobin variant. In symptomatic patients clinical manifestations are jaundice splenomegaly and in patients with severe anemia pallor. Additional features include reticulocytosis presence of Heinz bodies and pigmenturia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2026
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