Overview
Severe congenital hypochromic anemia with ringed sideroblasts is a very rare inherited blood disorder that is present from birth. In this condition, the body cannot properly make hemoglobin, the protein in red blood cells that carries oxygen throughout the body. As a result, red blood cells are pale (hypochromic) and smaller than normal (microcytic), leading to severe anemia. A hallmark feature of this disease is the presence of "ringed sideroblasts" — these are abnormal red blood cell precursors in the bone marrow that have iron deposits forming a ring around the cell's nucleus. This happens because the body cannot properly use iron to build hemoglobin, even though iron levels in the body may actually be high. Babies with this condition typically show signs of severe anemia very early in life, including extreme paleness, fatigue, poor feeding, and failure to thrive. Because the anemia is severe, many patients require regular blood transfusions starting in infancy. Over time, repeated transfusions and the body's own iron absorption problems can lead to iron overload, which can damage the heart, liver, and other organs if not managed. Treatment focuses on managing anemia through transfusions, sometimes pyridoxine (vitamin B6) supplementation if the form is responsive, and iron chelation therapy to prevent iron overload. In some cases, bone marrow transplantation may be considered as a potentially curative option. This is a lifelong condition that requires close monitoring by a team of specialists.
Also known as:
Key symptoms:
Severe paleness from birthExtreme tiredness and low energyPoor feeding in infancyFailure to grow and gain weight normallyRapid heartbeatShortness of breathYellowing of the skin or eyes (jaundice)Enlarged spleenEnlarged liverIron overload symptoms (if untreated)Delayed development due to chronic anemiaDark-colored urineWeakness and irritability
Clinical phenotype terms (20)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Severe congenital hypochromic anemia with ringed sideroblasts.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific gene mutation is causing my child's condition, and does it affect treatment options?,Is my child's form of sideroblastic anemia likely to respond to pyridoxine (vitamin B6)?,How often will blood transfusions be needed, and what is the plan for iron chelation?,Is bone marrow transplantation an option for my child, and what are the risks and benefits?,How will we monitor for iron overload and its complications over time?,Are there any clinical trials or new therapies being studied for this condition?,What should I watch for at home that would require emergency medical attention?
Common questions about Severe congenital hypochromic anemia with ringed sideroblasts
What is Severe congenital hypochromic anemia with ringed sideroblasts?
Severe congenital hypochromic anemia with ringed sideroblasts is a very rare inherited blood disorder that is present from birth. In this condition, the body cannot properly make hemoglobin, the protein in red blood cells that carries oxygen throughout the body. As a result, red blood cells are pale (hypochromic) and smaller than normal (microcytic), leading to severe anemia. A hallmark feature of this disease is the presence of "ringed sideroblasts" — these are abnormal red blood cell precursors in the bone marrow that have iron deposits forming a ring around the cell's nucleus. This happens
At what age does Severe congenital hypochromic anemia with ringed sideroblasts typically begin?
Typical onset of Severe congenital hypochromic anemia with ringed sideroblasts is neonatal. Age of onset can vary across affected individuals.