Human Phenotype Ontology

Last uploaded: July 1, 2024
Preferred Name

Elevated bone marrow ring sideroblast count

Synonyms

Refractory sideroblastic anaemia

Definitions

Count of ring sideroblasts in the bone marrow above the upper limit of normal. Ring sideroblasts are nucleated erythroblasts with a pathologic accumulation of iron granules in the mitochondrial matrix. They can be detected by Prussian blue staining as blue perinuclear aggregates in bone marrow aspirate erythroblasts. Sideroblastic anemia includes a group of inherited and acquired anemias of ineffective erythropoiesis characterized by an accumulation of ring sideroblasts in the bone marrow and decreased production of mature red blood cells. Additionally, refractory anemia with ring sideroblasts is a type of myelodysplastic syndrome that is characterized by anemia and the presence of at least 15 percent ring sideroblasts in the marrow.

ID

http://purl.obolibrary.org/obo/HP_0004864

comment

Sideroblastic anemia includes a group of inherited and acquired anemias of ineffective erythropoiesis characterized by an accumulation of ring sideroblasts in the bone marrow and decreased production of mature red blood cells. Additionally, refractory anemia with ring sideroblasts is a type of myelodysplastic syndrome that is characterized by anemia and the presence of at least 15 percent ring sideroblasts in the marrow.

database_cross_reference

UMLS:C0002896

SNOMEDCT_US:41841004

definition

Count of ring sideroblasts in the bone marrow above the upper limit of normal. Ring sideroblasts are nucleated erythroblasts with a pathologic accumulation of iron granules in the mitochondrial matrix. They can be detected by Prussian blue staining as blue perinuclear aggregates in bone marrow aspirate erythroblasts.

has_exact_synonym

Refractory sideroblastic anaemia

has_obo_namespace

human_phenotype

id

HP:0004864

label

Elevated bone marrow ring sideroblast count

notation

HP:0004864

prefLabel

Elevated bone marrow ring sideroblast count

treeView

http://purl.obolibrary.org/obo/HP_0012130

subClassOf

http://purl.obolibrary.org/obo/HP_0012130

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0004864 UPHENO SAME_URI