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Microcytic anemia with liver iron overload

Disease definition

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:83642

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D50.8
  • ICD-11: 3A00.Y
  • OMIM: 206100
  • UMLS: C2673913
  • MeSH: C567144
  • GARD: -
  • MedDRA: -

Summary

Etiology

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.

- Last update: October 2006

  A summary on this disease is available in Español (2006) Français (2006) Nederlands (2006)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.