• ​Caused by mutations in the hemoglobin beta (HBB) gene

  • Inherited in an autosomal recessive manner​​​

    • People who receive the mutation from both parents will have sickle cell anemia (S/S)​

    • People who receive one mutation from one parent and a different mutation from the other parent may have the sickle beta-zero thalassemia or sickle cell hemoglobin C forms of SCD

    • People who receive only one copy of the mutation will have "sickle cell trait" and are carriers of SCD that can pass it onto their offspring

• There are many forms of SCD

  • Sickle cell anemia (S/S)

    • Most common severe form

  • Sickle beta-zero thalassemia

  • Sickle cell hemoglobin C

  • Sickle beta-plus thalassemia

• Frequency of affected individuals varies greatly by country/region​​

  • More common in people from African, Hispanic, Indian, Central American, and Arabian Peninsular descent, but can be found in people from any ethnicity ​​

    • Affects 0.6% of African Americans in the US (about 100,000 people)

    • Affects an estimated 40% of the population in certain regions of Africa​​

• All newborns in the US are screened for SCD at birth

• Signs and symptoms vary between patients and often appear within the first 3 years of life

  • Symptoms result from the abnormal hemoglobin in RBCs

    • Anemia​

    • Jaundice

    • Pain (chronic and/or acute)​​

      • Pain/sickle crisis​

    • Weakness and fatigue

    • Frequent infections

    • Vision problems

    • Many other complications:

      • Stroke​

      • Acute chest syndrome

      • Pulmonary hypertension

      • Organ damage

      • Splenic sequestration

      • Blindness

• No cure exists

  • Disease management aims to prevent pain crises, relieve symptoms, and prevent complications​

  • Possible treatments include blood transfusions and stem cell (bone marrow) transplants

​

Sources

Johns Hopkins​

NORD

Mayo Clinic

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