hemolytic anemia due to diphosphoglycerate mutase deficiency

ORPHA: 7141 Treatment Available

Overview

rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly

Available Treatments (1)

DrugFormStatusCountriesLead Time
folic acid
oral tablet 0.4mg, 0.8mg, 1mg, 5mg; injectable solution 5mg/mLFDA Approved112d

Classification & Codes

Orphanet Code

ORPHA:714
hemolytic anemia due to diphosphoglycerate mutase deficiency
OrphanetORPHA:714
Treatments1 drug(s)
Statuspublished

Treatment Summary

Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
hemolytic anemia due to diphosphoglycerate mutase deficiency | OrphanDrug