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Microcytic anemia with liver iron overload
A congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.
ORPHA:83642Classification level: Disorder
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: D50.8
- OMIM: 206100
- UMLS: C2673913
- MeSH: -
- GARD: -
- MedDRA: -
This syndrome is due to mutations in DMT1 which codes for a transporter mediating the uptake of iron from the intestinal lumen in cytosol of duodenal enterocytes.
Management and treatment
Anemia poorly responds to oral iron treatment.