Disease Insights: sickle-cell-anemia
Welcome to the ultimate guide on sickle cell anemia. Here, you'll find answers to the most common questions to help you or your loved ones understand and manage this condition better.
Description for sickle cell anemia
A genetic blood disorder where red blood cells are abnormally shaped, causing blockages in blood flow and pain.
Symptoms of sickle cell anemia
delayed growth, fatigue, frequent infections, pain episodes, swelling in hands and feet
Precautions for sickle cell anemia
Stay hydrated, Avoid extreme temperatures, Take prescribed medications, Avoid high altitudes
Questions Covered:
- what is sickle cell anemia?
- What are the usual symptoms of sickle cell anemia?
- What are the potential risk factors associated with sickle cell anemia?
- What are the possible complications that could arise from sickle cell anemia?
- How do doctors usually figure out if someone has sickle cell anemia, diagnosis?
Answers:
Question: what is sickle cell anemia?
What is sickle cell anemia?
Sickle cell anemia, or sickle cell disease (SCD), is a genetic disease of the red blood cells (RBCs). Normally, RBCs are shaped like discs, which gives 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.
Question: What are the usual symptoms of sickle cell anemia?
Symptoms 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
Question: What are the potential risk factors associated with sickle cell anemia?
Children are only at risk for sickle cell disease if both parents carry sickle cell trait. A blood test called a hemoglobin electrophoresis can also determine which type you might carry.
People from regions that have endemic malaria are more likely to be carriers. This includes people from:
Africa
India
the Mediterranean
Saudi Arabia
Question: What are the possible complications that could arise from sickle cell anemia?
SCD can cause severe complications, which appear when the sickle cells block vessels in different areas of the body. Painful or damaging blockages are called sickle cell crises. They can be caused by a variety of circumstances, including:
illness
changes in temperature
stress
poor hydration
altitude
The following are types of complications that can result from sickle cell anemia.
Severe anemia
Anemia is a shortage of RBCs. Sickle cells are easily broken. This breaking apart of RBCs is called chronic hemolysis. RBCs generally live for about 120 days. Sickle cells live for a maximum of 10 to 20 days.
Hand-foot syndrome
Hand-foot syndrome occurs when sickle-shaped RBCs block blood vessels in the hands or feet. This causes the hands and feet to swell. It can also cause leg ulcers. Swollen hands and feet are often the first sign of sickle cell anemia in babies.
Splenic sequestration
Splenic sequestration is a blockage of the splenic vessels by sickle cells. It causes a sudden, painful enlargement of the spleen. The spleen may have to be removed due to complications of sickle cell disease in an operation known as a splenectomy. Some sickle cell patients will sustain enough damage to their spleen that it becomes shrunken and ceases to function at all. This is called autosplenectomy. Patients without a spleen are at higher risk for infections from bacteria such as Streptococcus, Haemophilus, and Salmonella species.
Delayed growth
Delayed growth often occurs in people with SCD. Children are generally shorter but regain their height by adulthood. Sexual maturation may also be delayed. This happens because sickle cell RBCs can't supply enough oxygen and nutrients.
Neurological complications
Seizures, strokes, or even coma can result from sickle cell disease. They are caused by brain blockages. Immediate treatment should be sought.
Eye problems
Blindness is caused by blockages in the vessels supplying the eyes. This can damage the retina.
Skin ulcers
Skin ulcers in the legs can occur if small vessels there are blocked.
Heart disease and chest syndrome
Since SCD interferes with blood oxygen supply, it can also cause heart problems which can lead to heart attacks, heart failure, and abnormal heart rhythms.
Lung disease
Damage to the lungs over time related to decreased blood flow can result in high blood pressure in the lungs (pulmonary hypertension) and scarring of the lungs (pulmonary fibrosis). These problems can occur sooner in patients who have sickle chest syndrome. Lung damage makes it more difficult for the lungs to transfer oxygen into the blood, which can result in more frequent sickle cell crises.
Priapism
Priapism is a lingering, painful erection that can be seen in some men with sickle cell disease. This happens when the blood vessels in the penis are blocked. It can lead to impotence if left untreated.
Gallstones
Gallstones are one complication not caused by a vessel blockage. Instead, they are caused by the breakdown of RBCs. A byproduct of this breakdown is bilirubin. High levels of bilirubin can lead to gallstones. These are also called pigment stones.
Sickle chest syndrome
Sickle chest syndrome is a severe type of sickle cell crisis. It causes severe chest pain and is associated with symptoms such as cough, fever, sputum production, shortness of breath, and low blood oxygen levels. Abnormalities observed on chest X-rays can represent either pneumonia or death of lung tissue (pulmonary infarction). The long-term prognosis for patients who have had sickle chest syndrome is worse than for those who have not had it.
Question: How do doctors usually figure out if someone has sickle cell anemia, diagnosis?
All newborns in the United States are screened for sickle cell disease. Prebirth testing looks for the sickle cell gene in your amniotic fluid.
In children and adults, one or more of the following procedures may also be used to diagnose sickle cell disease.
Detailed patient history
This condition often first appears as acute pain in the hands and feet. Patients may also have:
severe pain in the bones
anemia
painful enlargement of the spleen
growth problems
respiratory infections
ulcers of the legs
heart problems
Your doctor may want to test you for sickle cell anemia if you have any of the symptoms mentioned above.
Blood tests
Several blood tests can be used to look for SCD:
Blood counts can reveal an abnormal Hb level in the range of 6 to 8 grams per deciliter.
Blood films may show RBCs that appear as irregularly contracted cells.
Sickle solubility tests look for the presence of Hb S.
Hb electrophoresis
Hb electrophoresis is always needed to confirm the diagnosis of sickle cell disease. It measures the different types of hemoglobin in the blood.
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Additional Information and Resources:
Conclusion & Takeaways
Learning about sickle cell anemia is the first step toward taking control of your health. By understanding its causes, symptoms, and treatments, you empower yourself to make informed decisions. Remember to consult healthcare professionals for personalized advice and support.