Sickle cell anemiaSickle cell anemia, or sickle cell disease (SCD), is a genetic disease of the red blood cells (RBCs). Normally, RBCs are shaped like discs, which give them the flexibility to travel through even the smallest blood vessels. However, with this disease, the RBCs have an abnormal crescent shape resembling a sickle. This makes them sticky and rigid and prone to getting trapped in small vessels, which blocks blood from reaching different parts of the body. This can cause pain and tissue damage.
SCD is an autosomal recessive condition. You need two copies of the gene to have the disease. If you have only one copy of the gene, you are said to have sickle cell trait.
If both parents have the gene, there’s a chance of 1 in 4 of each child they have being born with sickle cell disease.
Symptoms of sickle cell anemiaSymptoms of sickle cell anemia usually show up at a young age. They may appear in babies as early as 4 months old, but generally occur around the 6-month mark.
While there are multiple types of SCD, they all have similar symptoms, which vary in severity. These include:
• excessive fatigue or irritability, from anemia
• fussiness, in babies
• bedwetting, from associated kidney problems
• jaundice, which is yellowing of the eyes and skin
• swelling and pain in hands and feet
• frequent infections
• pain in the chest, back, arms, or legs
Diagnosis of sickle cell anemiaA blood test can check for hemoglobin S — the defective form of hemoglobin that underlies sickle cell anemia. If the screening test is negative, there is no sickle cell gene present. If the screening test is positive, further tests will be done to determine whether one or two sickle cell genes are present.
Source: healthline
