Living with Severe congenital hypochromic anemia with ringed sideroblasts
A very rare form of anemia from infancy that needs transfusions and causes iron to build up in the body.
Understanding Severe congenital hypochromic anemia with ringed sideroblasts
It is a type of sideroblastic anemia (a blood condition where red blood cells do not use iron well). The red cells are pale and made slowly, and the person needs transfusions. Iron overload occurs. It begins in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia (low red blood cells or hemoglobin)
- Pale skin
- Tiredness (fatigue)
- Iron overload
- Low hormone activity from the gonads (hypogonadism)
- Absent sperm in semen
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Consider genetic testing
Changes in STEAP3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is linked to changes in the STEAP3 gene. It is autosomal dominant, so one changed copy of the gene can be enough.
Also known as: anemia, hypochromic microcytic, with iron overload type 2; hypochromic microcytic anemia with iron overload 2; severe congenital hypochromic sideroblastic anaemia; severe congenital hypochromic sideroblastic anemia
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
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Perspectives from people navigating life with Severe congenital hypochromic anemia with ringed sideroblasts.
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