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Anemia, hypochromic microcytic with iron overload

MedGen UID:: 388759
•Concept ID:: C2673913
•: Disease or Syndrome

Synonym:	Anemia, Hypochromic Microcytic, With Iron Overload
SNOMED CT:	Hypochromic microcytic anemia with iron overload (711161006); Microcytic anemia with liver iron overload (711161006); Microcytic anemia and hepatic iron overload (711161006)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	STEAP3, SLC11A2

Monarch Initiative:	MONDO:0000104
OMIM®:	600523
OMIM® Phenotypic series:	PS206100

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. [from ORPHANET]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMicrocytic anemia
- CROGVHemolytic disease of fetus OR newborn due to isoimmunization
- CROGVHypochromic microcytic anemia
  - CROGVAnemia, hypochromic microcytic with iron overload
    - CROGVMicrocytic anemia with liver iron overload
    - CROGVSevere congenital hypochromic anemia with ringed sideroblasts
  - CROGVIron deficiency anemia
- CROGVIron-refractory iron deficiency anemia

Abnormality of blood and blood-forming tissues
- Abnormal erythrocyte morphology
  - Anemia
    - Anemia of inadequate production
      - Microcytic anemia
        Hypochromic microcytic anemia
        Anemia, hypochromic microcytic with iron overload
        Microcytic anemia with liver iron overload
        Severe congenital hypochromic anemia with ringed sideroblasts

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