Overview
Rh deficiency syndrome is a rare blood disorder where a person's red blood cells are missing or have very low levels of Rh proteins on their surface. These proteins are normally found on almost everyone's red blood cells and play an important role in keeping the cells healthy and properly shaped. When these proteins are absent or severely reduced, red blood cells become fragile and break down too easily — a process called hemolytic anemia. This means the body does not have enough healthy red blood cells to carry oxygen efficiently. People with Rh deficiency syndrome often have red blood cells that look abnormal under a microscope, appearing spiky or misshapen (called stomatocytes or spherocytes). The condition is sometimes called Rhnull disease when all Rh proteins are completely absent, or Rhmod disease when they are greatly reduced. Rhnull blood is sometimes called 'golden blood' because it is extremely rare and can be donated to almost anyone with Rh-related blood types. Symptoms can range from mild to moderate and include ongoing fatigue, pale skin, and yellowing of the skin or eyes (jaundice) due to red blood cell breakdown. Some people also develop an enlarged spleen. Treatment focuses on managing anemia, and in more severe cases, regular blood transfusions may be needed. Finding compatible blood for transfusions can be very challenging because Rhnull blood is so rare.
Also known as:
Key symptoms:
Ongoing tiredness and low energy (anemia)Pale or yellowish skinYellowing of the whites of the eyes (jaundice)Enlarged spleen (splenomegaly)Abnormally shaped red blood cells seen on blood testsShortness of breath, especially during activityRapid or irregular heartbeatDark-colored urine from red blood cell breakdownOccasional episodes of more severe anemiaGallstones at a younger age than usual (from chronic red blood cell breakdown)
Clinical phenotype terms (20)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Rh deficiency syndrome.
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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 Rh deficiency syndrome.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my anemia, and do I need treatment right now or just monitoring?,Should I bank my own blood in case I ever need a transfusion, and how do I arrange that?,What should I do in a medical emergency if I need blood and compatible blood is not available?,Are my family members at risk, and should they be tested?,Are there any clinical trials or research studies I could join?,Should I take folic acid supplements, and are there other vitamins or lifestyle changes that could help?,Which hospitals or blood banks near me are best equipped to handle my rare blood type?
Common questions about Rh deficiency syndrome
What is Rh deficiency syndrome?
Rh deficiency syndrome is a rare blood disorder where a person's red blood cells are missing or have very low levels of Rh proteins on their surface. These proteins are normally found on almost everyone's red blood cells and play an important role in keeping the cells healthy and properly shaped. When these proteins are absent or severely reduced, red blood cells become fragile and break down too easily — a process called hemolytic anemia. This means the body does not have enough healthy red blood cells to carry oxygen efficiently. People with Rh deficiency syndrome often have red blood cells
How is Rh deficiency syndrome inherited?
Rh deficiency syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Rh deficiency syndrome?
1 specialists and care centers treating Rh deficiency syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.