Sickle Cell Anemia

by Nate Howrey

What is Sickle Cell Anemia?

Sickle cell anemia is a condition where there aren't enough healthy red blood cells to carry enough oxygen throughout the body. This happens because normally, red blood cells are round and flexible, but they turn sickle shaped and rigid in sickle cell anemia, causing them to get stuck in the smaller blood vessels and therefore constricting blood flow. It is one of the most common types of sickle cell disease (no, they aren't the same thing).
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Statistics

Sickle cell anemia is most common in West and Central Africa, where as many as 25% of the inhabitants there have the trait. In the United States, about 1,000 babies are born with sickle cell anemia each year. About 70,000-100,000 citizens have it and about 3 million are carriers of the trait. Nigeria, on the other hand, has about 3 times less people than the United States, but 45,000-90,000 babies are born with sickle cell anemia each year.


Other Statistics:


  • Sickle cell anemia occurs in about 1 in every 365 African-American babies
  • It occurs in about 1 in every 16,300 Hispanic-American births.
  • About 1 in 13 African-American babies are born with the sickle cell trait

Type of Mutation and Inheritance

Sickle cell anemia is caused by a point mutation. It is a change in one nucleotide in the gene for hemoglobin. Sickle cell anemia is an inherited recessive trait.
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Symptoms and Biology of Sickle Cell Anemia

Symptoms of sickle cell anemia typically don't appear until a baby is at least 4 months old. They include:


  • Episodes of pain: periods of pain are a major symptom for sickle cell anemia. It happens when sickle-shaped blood cells block blood flow through small blood vessels that go to your chest, abdomen and joints. It can also hurt in your bones. The pain can last for as little as a few hours or as much as a few weeks.
  • Hand-foot syndrome: these are typically the first signs of sickle cell anemia, and are swollen hands and feet. It happens due to sickle-shaped blood cells blocking the blood flow towards your hands and feet.
  • Frequent infections: sickle cells can damage your spleen, which fights infections. Doctors give babies with sickle cell anemia lots of vaccinations and medicine to prevent infections.
  • Delayed growth: Since red blood cells give your body oxygen and other nutrients, it makes sense that a shortage of healthy ones can slow the growth of babies and children, and delay puberty in teenagers.
  • Vision problems: sickle cells can clog the tiny blood vessels in your eyes. This could potentially damage the retina.

Diagnosis

A blood test can check for sickle cell anemia. In the United States, it's a routine of newborn screening done in the hospital. if the test is positive, then they test to see if either one or two sickle cell genes are present. if you only have one sickle cell gene, then you have sickle cell trait which is where you only have a little bit of hemoglobin S. (the defective form of hemoglobin that causes sickle cells) in your body. If you have two sickle cell genes, then you have sickle cell anemia where most of their blood cells are sickled.


Doctors can also test for sickle cell anemia before birth. They sample some of the amniotic fluid surrounding the fetus to look for the gene.

Treatment

The only potential cure for sickle cell anemia is a bone marrow transplant, but finding a donor is difficult and it has lots of risks associated with, including death. Most of the treatment for sickle cell anemia is aimed at pain. treatments (besides a bone marrow transplant) include supplemental oxygen, blood transfusions, and medication.


Different medications include:


  • Antibiotics: most kids take penicillin from 2 months old until they're at least 5 years old. It prevents infections which sickle cell anemia makes people a lot more susceptible to.
  • Pain-relievers: during a sickle crisis (thats what they call periods of pain), people take over-the-counter pain killers and apply heat to the infected area. If the pain is too much then doctors often prescribe extra strong pain medication.
  • Hydroxyurea: this is a drug that reduces the frequency of painful crises and reduces the need for blood transfusions. The downside of this drug is that it makes you more susceptible to infections and long-term use of it can cause tumors or leukemia. Hydroxyurea is mostly used in adults with severe sickle cell anemia.


Blood Transfusions:


In red blood cell cell transfusions, red blood cells are removed from donated blood and given to a person with sickle cell anemia. Blood transfusions can be harmful to you because, if done regularly, it can cause excess iron to build up and damage your heart and liver.


Supplemental Oxygen:


This is basically just carrying around a tank of oxygen to help get more oxygen in your blood and make you breathe easier.

Experimental Treatments

Gene Therapy: Since sickle cell anemia is caused by a defective gene, researchers are seeing whether or not inserting a normal gene into the bone marrow of infected patients with result in the production of normal hemoglobin.


Nitric Oxide: People with sickle cell anemia have low levels of nitric oxide in their blood. Nitric oxide is the gas that keeps blood cells open. Adding nitric oxide to the blood might prevent sickle cells from clumping up and prevent crises.


Statins: Statins are medications that are normally used to lower cholesterol, but may also help reduce inflammation and could help blood flow better through blood vessels.

Celebs with Sickle Cell Anemia