Blood Disorders Autosomal Recessive Treatment Available

Sickle Cell Disease

A blood disorder causing abnormal hemoglobin that distorts red blood cells into a sickle shape, causing pain crises and organ damage.

Genetic Information

Associated Gene

HBB

Inheritance Pattern

Autosomal Recessive

Carrier Frequency

1 in 12 (African American ancestry)

Signs and Symptoms
  • Pain crises
  • Anemia and fatigue
  • Frequent infections
  • Delayed growth
  • Vision problems
Treatment and Management
Treatment is available for this condition.

Hydroxyurea, blood transfusions, bone marrow transplant, gene therapy

How Is It Inherited?

This condition follows an autosomal recessive inheritance pattern. This means:

  • Carriers (1 copy) are typically healthy with no symptoms
  • Affected individuals (2 copies) have the condition
  • If both parents are carriers: 25% chance with each pregnancy that the child will be affected
Carrier testing is recommended for individuals with a family history or from populations with higher carrier rates.
Medical Reference

For detailed clinical information, visit the GeneReviews article:

GeneReviews: Sickle Cell Disease
Quick Facts
Category Blood Disorders
Inheritance Autosomal Recessive
Gene(s) HBB
Treatable Yes
Have Questions?

Speak with a board-certified genetic counselor to learn more about this condition and what it means for you.

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Resources
GeneReviews Article OMIM Database ClinVar Variants MedlinePlus Genetics
Disclaimer: This information is for educational purposes only and should not replace professional genetic counseling. If you have questions about genetic test results, please consult with a certified genetic counselor.