U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autosomal dominant sideroblastic anemia(SIDBA4)

MedGen UID:
902781
Concept ID:
C4225428
Disease or Syndrome
Synonym: Anemia, sideroblastic, 4
 
Gene (location): 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.
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).
Abnormal erythrocyte morphology
MedGen UID:
488883
Concept ID:
C0391870
Finding
Any structural abnormality of erythrocytes (red-blood cells).

Recent clinical studies

Etiology

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

Diagnosis

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

Prognosis

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

Clinical prediction guides

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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...