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Autosomal-Recessive Pyridoxine-Refractory Sideroblastic Anemia
Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anaemia

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]

Skin

  • Urticaria

    […] hemoglobinuria Refractory cytopenia with multilineage dysplasia AMLMPMD CFU-MegCFU-E Mast cell leukemia Mast cell sarcoma Systemic mastocytosis Diffuse cutaneous mastocytosis Erythrodermic mastocytosis Adult type of generalized eruption of cutaneous mastocytosis Urticaria [scientiait.com]

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]

  • 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

  • Ferritin Increased

    […] serum ferritin Elevated serum ferritin High ferritin level Increased ferritin Increased serum ferritin level [ more ] 0003281 Infantile onset Onset in first year of life Onset in infancy [ more ] 0003593 Showing of 29 | Last updated: 3/1/2020 Sideroblastic [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]

Treatment Occasionally, the anemia is so severe that support with transfusion is required. [scientiait.com]

Emerg Med Clin North Am 25:1041–60 CrossRef PubMed Google Scholar Ogier de Baulny H (2002) Management and emergency treatments of neonates with a suspicion of inborn errors of metabolism. [link.springer.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]

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]

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