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severe congenital hypochromic anemia with ringed sideroblasts

ORPHA: 300298

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with severe congenital hypochromic anemia with ringed sideroblasts, sourced from HPO and Orphanet clinical annotations.

ReticulocytopeniaAnemiaIncreased circulating ferritin concentrationDecreased transferrin saturationAzoospermiaHypogonadismAbnormality of the hypothalamus-pituitary axisPallorElevated circulating hepatic transaminase concentrationIncreased circulating iron concentrationAnisopoikilocytosisFatigueElevated hepatic iron concentrationDecreased mean corpuscular volumeHypothyroidismAdrenal insufficiencyCafe-au-lait spotHepatosplenomegalyGrowth delayDysplastic erythropoesis

Classification & Codes

Orphanet Code

ORPHA:300298
severe congenital hypochromic anemia with ringed sideroblasts
OrphanetORPHA:300298
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO