Presentation
Entire Body System
- Chronic Infection
infection 0031035 Dysplastic granulopoesis 0012136 Hepatomegaly Enlarged liver 0002240 Hypochromic anemia 0001931 Hyposegmentation of neutrophil nuclei 0011447 Splenomegaly Increased spleen size 0001744 Thrombocytopenia Low platelet count 0001873 1%- [rarediseases.info.nih.gov]
- Congestive Heart Failure
0005528 Congestive heart failure Cardiac failure Cardiac failures Heart failure [ more ] 0001635 Granulocytopenia 0001913 Increased megakaryocyte count 0005513 Leukocytosis Elevated white blood count High white blood count Increased blood leukocyte number [rarediseases.info.nih.gov]
- Fatigue
Unlike other forms of sideroblastic anemia, this form is not responsive to vitamin B6 (pyridoxine).[2] Last updated: 10/26/2011 The symptoms of sideroblastic anemia are the same as for any anemia and iron overload.[3] These may include fatigue, weakness [rarediseases.info.nih.gov]
Respiratoric
- Rales
[…] and iron overload.[3] These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain.[3][4] Physical findings may include pallor, tachycardia, hepatosplenomegaly, S3 gallop, jugular vein distension, and rales [rarediseases.info.nih.gov]
Liver, Gall & Pancreas
- Hepatosplenomegaly
[…] symptoms of sideroblastic anemia are the same as for any anemia and iron overload.[3] These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain.[3][4] Physical findings may include pallor, tachycardia, hepatosplenomegaly [rarediseases.info.nih.gov]
- Hepatomegaly
0000980 5%-29% of people have these symptoms Abnormal fingernail morphology Abnormal fingernails Abnormality of the fingernails [ more ] 0001231 Abnormal number of granulocyte precursors 0012137 Chronic infection 0031035 Dysplastic granulopoesis 0012136 Hepatomegaly [rarediseases.info.nih.gov]
Cardiovascular
- S3 Gallop
gallop, jugular vein distension, and rales.[3] Some people with sideroblastic anemia develop diabetes or abnormal glucose tolerance which may or may not be related to the degree of iron overload. [rarediseases.info.nih.gov]
- Heart Failure
0005528 Congestive heart failure Cardiac failure Cardiac failures Heart failure [ more ] 0001635 Granulocytopenia 0001913 Increased megakaryocyte count 0005513 Leukocytosis Elevated white blood count High white blood count Increased blood leukocyte number [rarediseases.info.nih.gov]
Neurologic
- Headache
[…] anemia, this form is not responsive to vitamin B6 (pyridoxine).[2] Last updated: 10/26/2011 The symptoms of sideroblastic anemia are the same as for any anemia and iron overload.[3] These may include fatigue, weakness, palpitations, shortness of breath, headaches [rarediseases.info.nih.gov]
Workup
Serum
- Normocytic Anemia
0001895 Normocytic anemia 0001897 Pallor 0000980 5%-29% of people have these symptoms Abnormal fingernail morphology Abnormal fingernails Abnormality of the fingernails [ more ] 0001231 Abnormal number of granulocyte precursors 0012137 Chronic infection [rarediseases.info.nih.gov]
Treatment
Treatments are aimed at preventing organ damage from iron overload, and controlling symptoms of anemia. People with severe anemia may require periodic transfusions. [rarediseases.info.nih.gov]
Prevention
Treatments are aimed at preventing organ damage from iron overload, and controlling symptoms of anemia. People with severe anemia may require periodic transfusions. [rarediseases.info.nih.gov]