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.

Click here to know more about Mendelian.

Incidence and onset information

— Not enough data available about incidence and published cases.

Accelerate your rare disease diagnosis with us

Learn more

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.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE PSEUDOHYPOPARATHYROIDISM TYPE 1A BOUCHER-NEUHAUSER SYNDROME; BNHS BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5 SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS