How is sickle cell disease diagnosed?

    Last Updated: October 25, 2023

    Both sickle cell disease (SCD) and sickle cell trait (SCT) can be diagnosed before birth, after birth, or during adulthood.[1]

    Prenatal tests, such as chorionic villus sampling (CVS) and amniocentesis, can confirm whether the baby will have SCD or SCT, and are typically offered to women with a higher risk of having a baby affected by a genetic condition.[2]

    Diagnosis of SCD or SCT in newborns or adults can be done through a simple blood test. In the US, all states conduct newborn screening for SCD to enable early intervention if deemed necessary. Additionally, parents who are planning on having a baby can undergo a blood test to check if they carry the sickle cell gene and to understand the likelihood of their children having SCT or SCD.[1]

    References

    1. ^Sickle Cell Disease: MedlinePlus
    2. ^Jain D, Atmapoojya P, Colah R, Lodha PSickle Cell Disease and Pregnancy.Mediterr J Hematol Infect Dis.(2019)