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Autosomal dominant sideroblastic anemia(SIDBA4)

MedGen UID:: 902781
•Concept ID:: C4225428
•: Disease or Syndrome

Synonym:	Anemia, sideroblastic, 4

Gene (location): Gene(s) directly associated with this condition or phenotype.	HSPA9 (5q31.2)

Monarch Initiative:	MONDO:0008422
OMIM®:	182170

Definition

Sideroblastic anemia comprises a heterogeneous group of inherited and acquired disorders characterized by ineffective erythropoiesis. Anemia, if present, may be microcytic or macrocytic. Sometimes a dimorphic picture is observed in which 2 populations of erythrocytes can be detected in peripheral blood smears. The presence of ringed sideroblasts (erythroblasts containing pathologic mitochondrial iron deposits) in bone marrow is pathognomonic for sideroblastic anemia (van Waveren Hogervorst et al., 1987; Schmitz-Abe et al., 2015). For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (300751). [from OMIM]

Clinical features

From HPO

Refractory anemia with ringed sideroblasts

MedGen UID:: 220394
•Concept ID:: C1264195
•: Neoplastic Process

A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts.

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Sideroblastic anemia

MedGen UID:: 8067
•Concept ID:: C0002896
•: Disease or Syndrome

Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).

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Abnormal erythrocyte morphology

MedGen UID:: 488883
•Concept ID:: C0391870
•: Finding

Any structural abnormality of erythrocytes (red-blood cells).

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Abnormality of blood and blood-forming tissues
- Abnormal erythrocyte morphology
- Sideroblastic anemia
Neoplasm
- Refractory anemia with ringed sideroblasts

Recent clinical studies

Etiology

Beta-thalassemia.

Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708 Free PMC Article

See all (1)

Diagnosis

Hereditary myopathies associated with hematological abnormalities.

Beecher G, Fleming MD, Liewluck T
Muscle Nerve 2022 Apr;65(4):374-390. Epub 2022 Jan 5 doi: 10.1002/mus.27474. PMID: 34985130

Beta-thalassemia.

Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708 Free PMC Article

See all (2)

Prognosis

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.

To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H
Blood 2011 Aug 11;118(6):1443-51. Epub 2011 Jun 7 doi: 10.1182/blood-2011-03-342873. PMID: 21653323

Beta-thalassemia.

Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708 Free PMC Article

See all (2)

Clinical prediction guides

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.

See all (1)

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Autosomal dominant sideroblastic anemia(SIDBA4)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

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