Overview
Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is a rare inherited condition that affects several body systems at once. It is caused by a problem in how the body absorbs and uses thiamine, also called vitamin B1. Without enough thiamine getting into cells properly, the body cannot make healthy red blood cells, and the heart and nervous system can also be affected. The three main features of TRMA are a type of anemia called megaloblastic anemia (where red blood cells are abnormally large and do not work well), diabetes that starts in childhood, and hearing loss that is present from early in life. Not every person with TRMA has all three features at the same time, and symptoms can vary in how severe they are. The good news is that high-dose thiamine (vitamin B1) supplements can improve or even reverse the anemia and may help control blood sugar levels. However, the hearing loss usually does not improve with thiamine treatment. Early diagnosis is very important because starting thiamine supplements early can prevent some of the more serious complications. People with TRMA need lifelong medical care and monitoring from a team of specialists.
Also known as:
Key symptoms:
Anemia causing tiredness, pale skin, and weaknessDiabetes starting in childhood or early adolescenceHearing loss, usually present from birth or early childhoodAbnormally large red blood cells seen on blood testsLow levels of certain blood cells (low white cells or platelets in some cases)Fatigue and low energyFrequent infections due to low white blood cell countsEasy bruising or bleeding due to low platelet countsPoor growth or failure to thrive in some childrenHeart rhythm problems (in some individuals)Vision problems such as optic nerve damage (in some individuals)
Clinical phenotype terms (20)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
1 availableEverolimus
Postmenopausal women with advanced hormone receptor-positive, HER2-negative breast cancer in combination with exemestane after failure of treatment with letrozole or anastrozole
Clinical Trials
View all trials with filters →No actively recruiting trials found for Thiamine-responsive megaloblastic anemia syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Thiamine-responsive megaloblastic anemia syndrome.
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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Caregiver Resources
NORD Caregiver Resources
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Family & Caregiver Grants
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What dose of thiamine should my child take, and how will we know if it is working?,Will the hearing loss improve with thiamine treatment, and what hearing support options are available?,How often do we need blood tests to monitor the anemia and blood sugar?,Does my child need insulin or other diabetes medications in addition to thiamine?,Are there any heart or eye complications we should watch for, and how often should those be checked?,Should other family members be tested to see if they are carriers of the SLC19A2 gene change?,Are there any clinical trials or research studies for TRMA that we should know about?
Common questions about Thiamine-responsive megaloblastic anemia syndrome
What is Thiamine-responsive megaloblastic anemia syndrome?
Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is a rare inherited condition that affects several body systems at once. It is caused by a problem in how the body absorbs and uses thiamine, also called vitamin B1. Without enough thiamine getting into cells properly, the body cannot make healthy red blood cells, and the heart and nervous system can also be affected. The three main features of TRMA are a type of anemia called megaloblastic anemia (where red blood cells are abnormally large and do not work well), diabetes that starts in childhood, and hea
How is Thiamine-responsive megaloblastic anemia syndrome inherited?
Thiamine-responsive megaloblastic anemia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Thiamine-responsive megaloblastic anemia syndrome typically begin?
Typical onset of Thiamine-responsive megaloblastic anemia syndrome is childhood. Age of onset can vary across affected individuals.