Overview
Lethal hemolytic anemia-genital anomalies syndrome is an extremely rare genetic condition that combines severe destruction of red blood cells (hemolytic anemia) with abnormalities of the genital organs. This syndrome was first described in a small number of affected individuals and is considered lethal, meaning it typically leads to death in early life. The hemolytic anemia component means that the body destroys its own red blood cells faster than it can make new ones, leading to severe anemia, jaundice (yellowing of the skin and eyes), and organ damage. The genital anomalies can include malformations of the reproductive organs. Because this condition is so rare, very little is known about its full range of symptoms, the exact genetic cause, or effective treatments. Management is primarily supportive, focusing on treating the anemia through blood transfusions and addressing any complications that arise. Due to the severity of the anemia and associated problems, the prognosis is very poor, with affected infants typically not surviving the newborn period or early infancy. Families affected by this condition should seek care from specialists in genetics, hematology, and neonatology for the best possible supportive care.
Also known as:
Key symptoms:
Severe anemia (very low red blood cell count)Jaundice (yellow skin and eyes)Destruction of red blood cells (hemolysis)Abnormalities of the genitalsPale skinDifficulty breathingSwelling of the body (hydrops)Enlarged spleenEnlarged liverPoor feedingFailure to thrive
Clinical phenotype terms (20)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Lethal hemolytic anemia-genital anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Lethal hemolytic anemia-genital anomalies 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
No travel grants are currently matched to Lethal hemolytic anemia-genital anomalies syndrome.
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
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.What is the expected course of this condition for my baby?,Are there any treatments that could help improve my baby's comfort or survival?,What genetic testing is available to confirm the diagnosis?,What is the chance that future children could be affected by this condition?,Can you refer us to palliative care and family support services?,Is prenatal testing available for future pregnancies?,Are there any research studies or registries we can participate in?
Common questions about Lethal hemolytic anemia-genital anomalies syndrome
What is Lethal hemolytic anemia-genital anomalies syndrome?
Lethal hemolytic anemia-genital anomalies syndrome is an extremely rare genetic condition that combines severe destruction of red blood cells (hemolytic anemia) with abnormalities of the genital organs. This syndrome was first described in a small number of affected individuals and is considered lethal, meaning it typically leads to death in early life. The hemolytic anemia component means that the body destroys its own red blood cells faster than it can make new ones, leading to severe anemia, jaundice (yellowing of the skin and eyes), and organ damage. The genital anomalies can include malfo
How is Lethal hemolytic anemia-genital anomalies syndrome inherited?
Lethal hemolytic anemia-genital anomalies syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lethal hemolytic anemia-genital anomalies syndrome typically begin?
Typical onset of Lethal hemolytic anemia-genital anomalies syndrome is neonatal. Age of onset can vary across affected individuals.