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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

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

Professional guidelines

PubMed

Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.

Cazzola M, Malcovati L
Hematology Am Soc Hematol Educ Program 2015;2015:19-25. doi: 10.1182/asheducation-2015.1.19. PMID: 26637696

Identification and treatment of anaemia in older patients.

Murphy PT, Hutchinson RM
Drugs Aging 1994 Feb;4(2):113-27. doi: 10.2165/00002512-199404020-00004. PMID: 8186539

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