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X-Linked Pyridoxine-Refractory Sideroblastic Anemia Type 1
X-Linked Pyridoxine-Refractory Sideroblastic Anaemia Type 1

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]

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