Life after a coma · Sickle Cell Disease · Survivors

Sickle Cell Anemia 101

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.

What are the 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

What are the types of Sickle Cell Anemia? Hemoglobin is the protein in red blood cells that carries oxygen. It normally has two alpha chains and two beta chains. The four main types of sickle cell anemia are caused by different mutations in these genes.

Hemoglobin SS disease

Hemoglobin SS disease is the most common type of sickle cell disease. It occurs when you inherit copies of the hemoglobin S gene from both parents. This forms hemoglobin known as Hb SS. As the most severe form of SCD, individuals with this form also experience the worst symptoms at a higher rate.

Hemoglobin SC disease

Hemoglobin SC disease is the second most common type of sickle cell disease. It occurs when you inherit the Hb C gene from one parent and the Hb S gene from the other. Individuals with Hb SC have similar symptoms to individuals with Hb SS. However, the anemia is less severe.

Hemoglobin SB+ (beta) thalassemia

Hemoglobin SB+ (beta) thalassemia affects beta globin gene production. The size of the red blood cell is reduced because less beta protein is made. If inherited with the Hb S gene, you will have hemoglobin S beta thalassemia. Symptoms are not as severe.

Hemoglobin SB 0 (Beta-zero) thalassemia

Sickle beta-zero thalassemia is the fourth type of sickle cell disease. It also involves the beta globin gene. It has similar symptoms to Hb SS anemia. However, sometimes the symptoms of beta zero thalassemia are more severe. It is associated with a poorer prognosis.

Hemoglobin SD, hemoglobin SE, and hemoglobin SO

These types of sickle cell disease are more rare and usually don’t have severe symptoms.

Sickle cell trait

People who only inherit a mutated gene (hemoglobin S) from one parent are said to have sickle cell trait. They may have no symptoms or reduced symptoms.

Who is at risk for 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

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.

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.

There is so much more, but I hope this gives some insight on what life is like leaving with a disease that can cause so many problems. I have Hemoglobin SC Disease, the second worse type. Every person is different and is affected differently.

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