Anemia, Hypochromic Microcytic, With Iron Overload 2; Ahmio2

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.

Genes related to Anemia, Hypochromic Microcytic, With Iron Overload 2; Ahmio2

STEAP3-AS1
STEAP3

Clinical Features

Top most frequent phenotypes and symptoms related to Anemia, Hypochromic Microcytic, With Iron Overload 2; Ahmio2

Growth delay
Anemia
Hepatomegaly
Splenomegaly
Fatigue
Hypogonadism
Elevated hepatic transaminase
Hypothyroidism
Hepatosplenomegaly
Pallor

And another 17 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Anemia, Hypochromic Microcytic, With Iron Overload 2; Ahmio2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hyperferritinemia Panel. By Molecular Genetics Laboratory London Health Sciences Centre in Canada. HFE, ALAS2, SLC25A38, CDAN1, SEC23B, FTL, CP, SLC40A1, TFR2, HAMP, HJV, B2M, FTH1, STEAP3, TF Specificity 7 % Genes 50 %
Anemia, hypochromic microcytic, with iron overload 2 (sequence analysis of STEAP3 gene). By CGC Genetics in Portugal. STEAP3 Specificity 100 % Genes 50 %
NGS Panel for Congenital and Acquired Sideroblastic Anemia. By BLOODGENETICS BLOODGENETICS in Spain. YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5, MT-ATP6, SLC19A2, LARS2, SF3B1, TRNT1, STEAP3, NDUFB11, HSPA9 Specificity 8 % Genes 50 %
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 50 %
STEAP3. By Fulgent Genetics Fulgent Genetics in United States. STEAP3 Specificity 100 % Genes 50 %

Alternate names

Anemia, Hypochromic Microcytic, With Iron Overload 2; Ahmio2 Is also known as ;severe congenital hypochromic sideroblastic anemia.

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