What is Sickle Cell Disease?
Sickle cell disease (SCD) is a blood disorder where an individual has abnormal hemoglobin, a protein that transports oxygen from the lungs to all the tissues, in his or hers red blood cells. SCD is not contagious and is typically passed through genes from the parent. Those with SCD have inherited one abnormal hemoglobin gene from each parent.
Normal red blood cells are shaped like a disc, which enables them to move through the blood vessels easily to transport oxygen. Sickle hemoglobin form rods within the red blood cell, which causes it to turn into a crescent shape. This shape causes the red blood cells to stick to vessel walls and cause blockages, preventing oxygen from transporting to the tissues.
Symptoms of Sickle Cell Disease and Diagnosis
Symptoms of Sickle Cell Disease (SCD) are present at birth. The United States requires all newborns to be screened for SCD and because problems associated with SCD don’t usually arise until the child is 5 or 6 months old, parents are aware of the disease before symptoms are present.
Early symptoms of SCD include:
- Dactylitis (painful swelling of hands and feet)
- Fatigue or fussiness
- Jundice (yellowish skin color) and icteris (yellowish eyes)
Complications of Sickle Cell Disease
- Acute Pain: People often feel sharp pain when sickle cells block blood flow and decrease oxygen delivery. Pain often occurs in the lower back, legs, arms, chest, and abdomen.
- Chronic Pain: The cause of this kind of pain is not completely known, but it is severe and makes daily tasks difficult for those suffering with chronic pain.
- Severe Anemia: This may lead to shortness of breath, extreme fatigue, dizziness, and pale skin. Children with severe anemia may be sluggish and feed poorly.
- Infections: Sickle cells can damage or destroy the spleen, which inhibits the body’s ability to protect against germs. This leaves people with SCD at rights for several bacterial infections including Pneumococcus, Hemophilus influenza type B, Meningococcus, and Salmonella.
- Acute Chest Syndrome: This happens when the lungs are deprived of oxygen, causing damage in areas of the lung tissue. Symptoms include chest pain, cough, fever, shortness of breath, rapid breathing.
- Brain Complications: SCD can cause client strokes, silent strokes and difficulty thinking, learning, and making decisions.
- Eye Problems: This is caused by injury to the blood vessels in the eye, most commonly in the retina.
- Heart Disease: Blood vessels in the heart that are affected by SCD can cause the heart can become enlarged. People suffering with SCD can also develop pulmonary hypertension. Those receiving blood transfusions may also be at risk for heart damage from too much iron.
- Kidney Problems: Kidneys have difficulty producing urine the way it should be when someone has SCD. This may cause uncontrollable urination and the need to urinate often.
- Gallstones: Symptoms of gallstones include nausea, vomiting and pain in the upper right side of the abdomen.
- Liver Complications: Blockages in the red vessels of the liver can cause sever damage to the organ.
- Leg Ulcers: These ulcers are sores that usually start small and then get larger and larger.
- Joint Complications: Decreased oxygen flow in the bones of the hip shoulders, knees, and ankles can cause severe damage in the joints.
- Delayed Growth and Puberty: Anemia in children with SCD can cause them to develop more slowly than other children.
- Pregnancy: Pregnant women with SCD may experience medical complications. These complications include infectons, blood clots, pain, high blood pressure, premature births, miscarriages, and underweight babies.
- Mental Health: SCD may cause feelings of sadness and frustration, as well as depression in people with the disease.
Jaime Venditti, State Coordinator, New York Health Works