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Severe congenital hypochromic anemia with ringed sideroblasts

Disease definition

STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.

ORPHA:300298

Classification level: Disorder
  • Synonym(s):
    • Severe congenital hypochromic sideroblastic anemia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D64.0
  • ICD-11: 3A72.00
  • OMIM: 615234
  • UMLS: C4511137
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

It has been reported in 3 siblings to date.

Etiology

STEAP3/TSAP6-related sideroblastic anemia is caused by a nonsense heterozygous mutation in the STEAP3/TSAP6 gene. Transmission is most likely recessive with a low expression allele.

Expert reviewer(s):  Pr Clara CAMASCHELLA - Last update: July 2013

  A summary on this disease is available in Español (2013) Nederlands (2013)

Additional information

Further information on this disease

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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.