Overview
X-linked sideroblastic anemia (also called XLSA or X-linked pyridoxine-responsive sideroblastic anemia) is a rare inherited blood disorder that mainly affects males. It happens because the body cannot make red blood cells properly. Normally, red blood cells carry oxygen throughout the body using a protein called hemoglobin. In XLSA, a faulty gene causes a problem in the way the body builds heme, which is the iron-containing part of hemoglobin. As a result, iron gets stuck inside developing red blood cells in the bone marrow, forming abnormal cells called 'ring sideroblasts.' These damaged cells cannot do their job, leading to anemia — a shortage of healthy red blood cells. The most common symptoms include tiredness, weakness, pale skin, and shortness of breath. Over time, the body tries to absorb more iron to compensate, which can cause iron to build up in organs like the liver, heart, and pancreas — a condition called iron overload. This can cause serious organ damage if not treated. The good news is that many people with XLSA respond well to high doses of vitamin B6 (pyridoxine), which can significantly improve red blood cell production. For those who do not respond to vitamin B6, regular blood transfusions and iron-removing treatments (called chelation therapy) are used. With proper management, many patients can live relatively normal lives, though lifelong monitoring is needed.
Also known as:
Key symptoms:
Persistent tiredness and low energyPale or yellowish skinShortness of breath, especially with activityRapid or irregular heartbeatWeakness and reduced exercise toleranceEnlarged liver or spleenAbdominal discomfort or painJoint pain (from iron buildup)Diabetes or blood sugar problems (from iron in the pancreas)Heart problems (from iron buildup in the heart)Dizziness or lightheadednessHeadaches
Clinical phenotype terms (10)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for X-linked sideroblastic anemia.
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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
No travel grants are currently matched to X-linked sideroblastic anemia.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
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Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Is my child or I likely to respond to vitamin B6 treatment, and how will we know if it is working?,How often do I need blood tests and bone marrow checks to monitor my condition?,What are the signs that iron overload is becoming a problem, and when should I seek urgent care?,Should other family members — especially my mother, sisters, or daughters — be tested for the gene change?,Are there any clinical trials or new treatments for XLSA that I should know about?,What dietary changes should I make to help manage iron levels?,When would a bone marrow transplant be considered, and what would that process look like?
Common questions about X-linked sideroblastic anemia
What is X-linked sideroblastic anemia?
X-linked sideroblastic anemia (also called XLSA or X-linked pyridoxine-responsive sideroblastic anemia) is a rare inherited blood disorder that mainly affects males. It happens because the body cannot make red blood cells properly. Normally, red blood cells carry oxygen throughout the body using a protein called hemoglobin. In XLSA, a faulty gene causes a problem in the way the body builds heme, which is the iron-containing part of hemoglobin. As a result, iron gets stuck inside developing red blood cells in the bone marrow, forming abnormal cells called 'ring sideroblasts.' These damaged cell
How is X-linked sideroblastic anemia inherited?
X-linked sideroblastic anemia follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.