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Severe congenital hypochromic anemia with ringed sideroblasts

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Name:
Severe congenital hypochromic anemia with ringed sideroblasts
Description:
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.
ORPHAcode:
300298
Synonyms:
Severe congenital hypochromic sideroblastic anemia
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
STEAP3
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Hemochromatosis (17 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALAS2 100.00 1 NM_000032
    CDAN1 100.00 1 NM_138477
    CP 100.00 1 NM_000096
    FTH1 100.00 1 NM_002032
    FTL 100.00 1 NM_000146
    HAMP 100.00 1 Core gene / NM_021175
    HFE1 100.00 1 NM_000410
    HJV 100.00 1 Core gene / NM_213653
    HMOX1 100.00 1 NM_002133
    SEC23B 100.00 1 NM_006363
    SLC11A2 100.00 1 Core gene / NM_000617
    SLC25A38 100.00 1 NM_017875
    SLC40A1 100.00 1 NM_014585
    STEAP3 100.00 1 NM_001008410
    TF 100.00 1 NM_001063
    TFR2 100.00 1 Core gene / NM_003227
    TMPRSS6 100.00 1 NM_153609