Sickle Cell Disease

Includes: Sickle cell trait (SCT); Sickle cell anemia; Sickle cell disease (SCD)

Gene: HBB

Protein: hemoglobin subunit beta

Clinical Characteristics May Include:

Sickle cell trait:                 

• Typically, does not have symptoms related to sickle cell disease.
• Rarely, extreme conditions such as dehydration and high-intensity physical activity can lead to serious health issues in individuals with sickle cell trait.
• Having a parent or a child with sickle cell disease

Sickle cell disease:

• Anemia
• Fatigue or weakness
• Shortness of breath
• Severe pain, called a sickle cell crisis
• Risk of stroke
• Damage to vital organs (lungs, liver, kidney, bones

Inheritance pattern: Autosomal recessive

• Sickle cell trait (SCT) is an inherited condition in which a person has one abnormal hemoglobin beta gene, Hb S. 
• Sickle cell disease (SCD) occurs when the affected person has two abnormal hemoglobin beta genes, Hb SS. 
• Different forms of sickle cell disease include: Hb SS, Hb SC, Hb S beta-thalassemia. 
  • Hb SS is the most common and severe type. 
  • HB SC occurs because patients inherit Hb S from one parent and Hb C from the other. 
  • Hb S beta-thalassemia, patients inherit Hb S from one parent and another change in their HBB gene from the other.