Presentation
The autosomal recessive form is typically severe in presentation. Genetic syndromes: Rarely, sideroblastic anemia may be part of a congenital syndrome and present with associated findings, such as ataxia, myopathy, and pancreatic insufficiency. [scientiait.com]
Entire Body System
- Refractory Anemia
Three forms exist and include refractory anemia with ringed sideroblasts (RARS), refractory anemia with ringed sideroblasts and thrombocytosis (RARS-T), and refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS). [scientiait.com]
- Anemia
[…] reversible sideroblastic anemia. [scientiait.com]
Musculoskeletal
- Myopathy
Genetic syndromes: Rarely, sideroblastic anemia may be part of a congenital syndrome and present with associated findings, such as ataxia, myopathy, and pancreatic insufficiency. [scientiait.com]
Neurologic
- Ataxia
Genetic syndromes: Rarely, sideroblastic anemia may be part of a congenital syndrome and present with associated findings, such as ataxia, myopathy, and pancreatic insufficiency. [scientiait.com]
Workup
Serum
- Thrombocytosis
Three forms exist and include refractory anemia with ringed sideroblasts (RARS), refractory anemia with ringed sideroblasts and thrombocytosis (RARS-T), and refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS). [scientiait.com]
- Microcytic Anemia
Congenital forms often present with normocytic or microcytic anemia while acquired forms of sideroblastic anemia are often normocytic or macrocytic. [scientiait.com]
Treatment
Treatment Occasionally, the anemia is so severe that support with transfusion is required. [scientiait.com]
Prognosis
Therapeutic phlebotomy can be used to manage iron overload.[16] Prognosis Sideroblastic anemias are often described as responsive or non-responsive in terms of increased hemoglobin levels to pharmacological doses of vitamin B6. 1- Congenital: 80% are [scientiait.com]