In sideroblastic anemia pyridoxine-refractory
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Refractory anemia with ringed sideroblasts||0004828|
|30%-79% of people have these symptoms|
|Megaloblastic erythroid hyperplasia||0200143|
|5%-29% of people have these symptoms|
|Abnormal fingernail morphology||
Abnormality of the fingernails[ more ]
|Abnormal number of granulocyte precursors||0012137|
|Hyposegmentation of neutrophil nuclei||0011447|
Increased spleen size
Low platelet count
|1%-4% of people have these symptoms|
|Acute myeloid leukemia||0004808|
|Bone marrow hypocellularity||
Bone marrow failure
|Congestive heart failure||
Heart failure[ more ]
|Increased megakaryocyte count||0005513|
Elevated white blood count
High white blood count
Increased blood leukocyte number[ more ]
Low blood neutrophil count
Low neutrophil count[ more ]
Low blood cell count
Increased number of platelets in blood
|Percent of people who have these symptoms is not available through HPO|
|Autosomal recessive inheritance||0000007|
|Decreased mean corpuscular volume||0025066|
|Increased serum ferritin||
Elevated serum ferritin
High ferritin level
Increased serum ferritin level[ more ]
Onset in first year of life
Onset in infancy[ more ]
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
RARS can be separated from other categories of MDS by the presence in the bone marrow of more than 15% of ringed sideroblasts in the erythroid cells, an absence of dysplasia in the other cell lineages and a low percentage of myeloid blasts (<5%).
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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