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