Anemia, Hypochromic Microcytic, With Iron Overload 1; Ahmio1
Description
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.
Genes related to Anemia, Hypochromic Microcytic, With Iron Overload 1; Ahmio1
- SLC11A2
Clinical Features
Phenotypes and symptoms related to Anemia, Hypochromic Microcytic, With Iron Overload 1; Ahmio1
- Anemia
- Abnormality of metabolism/homeostasis
- Abnormality of the liver
- Microcytic anemia
- Hypochromic microcytic anemia
- Decreased mean corpuscular volume
- Erythroid hyperplasia
Incidence and onset information
— Not enough data available about incidence and published cases.
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Anemia, Hypochromic Microcytic, With Iron Overload 1; Ahmio1 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
|
Microcytic anemia with liver iron overload (sequence analysis of SLC11A2 gene).
By CGC Genetics in Portugal.
SLC11A2
Specificity
100 %
Genes
100 % |
|
Microcytic hypochromic anemia with hepatic iron overload.
By BLOODGENETICS BLOODGENETICS in Spain.
SLC11A2
Specificity
100 %
Genes
100 % |
|
NGS Panel for Iron related Anemias (including Aceruloplasminemia, Atransferrinemia, IRIDA, DMT1-deficiency =AHMIO1, Hypochromic microcytic anemia with iron overload 2=AHMIO2).
By BLOODGENETICS BLOODGENETICS in Spain.
ATP7B, ACVR1, CP, STEAP3, TF, TMPRSS6, SLC11A2, ATP4A
Specificity
13 %
Genes
100 % |
|
SLC11A2.
By Fulgent Genetics Fulgent Genetics in United States.
SLC11A2
Specificity
100 %
Genes
100 % |
|
Hypochromic Microcytic Anemia with Iron Overload , Sequencing SLC11A2 Gene.
By Reference Laboratory Genetics in Spain.
SLC11A2
Specificity
100 %
Genes
100 % |
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