Sickle cell-beta-thalassemia disease syndrome

Other Names: 

HbS-beta-thalassemia syndrome

Summary

Sickle cell-beta-thalassemia disease syndrome is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body. It is a type of sickle cell disease. Affected people have a different change in each copy of their HBB gene: one that causes red blood cells to form a ""sickle"" or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia genetic change, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature red blood cells leads to the many signs and symptoms of sickle cell-beta-thalassemia disease syndrome. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle cell-beta-thalassemia disease syndrome is inherited in an autosomal recessive manner.

About Sickle cell-beta-thalassemia disease syndrome

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

• Population Estimate:This section is currently indevelopment.
• Symptoms:May start to appear at any time in life.
• Cause:This disease is caused by a change in the genetic material (DNA).
• Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
• Newborn Screening:This disease may be detected through newborn screening tests performed soon afterbirth.
• Categories:Genetic Diseases Blood Diseases

Genetic Mutations

Sickle cell-beta-thalassemia disease syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these. Learn more about genetic diseases from the National Library of Medicine (NLM).

If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team. This tool from the Surgeon General can help you collect your family health history.

Autosomal Recessive

Autosomal means the gene involved is located on one of the numbered chromosomes. Recessive means that a child must inherit two copies of the mutated gene, one from each biological parent, to be affected by the disease. A carrier is a person who only has one copy of the genetic mutation. A carrier usually doesn't show any symptoms of the disease.

If both biological parents are carriers, there is a 25% their child inherits both copies of the mutated gene and is affected by the disease. Additionally, there is a 50% chance their child inherits only one copy of the mutated gene and is a carrier.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

When Do Symptoms of Sickle cell-beta-thalassemia disease syndrome Begin?

Symptoms of this disease may start to appear at any time in life.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.