What is Sickle Cell Disease?

Inherited red blood cell disorder causing abnormal hemoglobin
Hemoglobin is a protein in the red blood cells that carries oxygen throughout the body
Inherited means the disease is passed by genes from parents to their children
SCD is not contagious (like a cold or infection)
People with SCD inherit 2 abnormal hemoglobin genes (one from each parent)- one of them being hemoglobin S

Red blood cells that contain normal hemoglobin are disc shaped (like a doughnut without a hole) which allows it to be flexible so they can move around through large and small blood vessels to deliver oxygen
Sickle hemoglobin is not like normal hemoglobin. It can form stiff rods within the red cell, changing it to a crescent, or sickle shape
Sickle cells are not flexible and can stick to vessel walls, causing blockage that slows or stops the flow of blood
When this happens, oxygen can’t reach nearby tissues- causing attacks of severe pain (pain crises), organ damage

Life long disease that affects multiple organs: Spleen, Brain, Eyes, Lungs, Liver, Heart, Kidneys, Penis, Joints, Bones, Skin
Sickle cells don’t live long (10-20 days instead of 100-120 days) so patients have severe anemia
In high income countries like US, life expectancy is 40-60 years
Bone marrow transplant is the only cure so far but only very successful in a matched sibling donor

When hemoglobin S gene is inherited from only one parent, and a normal hemoglobin gene is inherited from the other, a person has sickle cell trait
People with trait are normally healthy
If the child’s other parent also has sickle cell trait or another hemoglobin gene (like Thalassemia, hemoglobin C, hemoglobin D, Hemoglobin E), that child has a chance of having sickle cell disease (SCD)

Newborn screening catches every child with SCD or trait (but this is only children born in the US)
Painful swelling of hands and feet (called dactylitis)
Fatigue, fussiness from anemia
Yellowish color of skin, eyes from red cell breaking, liver disease, gallstones
Pain in back, legs, arms, abdomen, chest, joint complications
Shortness of breath, tired, dizzy
Infection
Acute chest syndrome
Stroke
Blindness
Heart, Lung, Kidney disease, priapism (painful erections)
Delayed growth, puberty due to anemia, depression, chronic pain, risky pregnancy