Sickle Cell Anemia:

What is it?

It is the most common Sickle Cell Disease (SCD). This is a disorder in which the human body creates red blood cells which are "sickle-shaped", meaning that the red blood cells are shaped the same way as a crescent. This is different to regular red blood cells that are shaped just like a disc, with a hole in the middle. Usually these blood cells flow through your body with a protein called hemoglobin, which carry oxygen from one's lungs over to the rest of your body. The difference with sickle cells, is that these cells carry an abnormal protein that is called Hemoglobin S, which makes the cell have its crescent shape. Sickle cells block the blood flow in the vessels of the limb and in vital organs. This can cause horrendous pain, serious infections and organ damage.Below one can find a picture that demonstrates the difference between a normal red blood cell and a sickle one.


Sickle Cell Anemia is also one of the most common type of anemia, a condition in which your blood has a lower amount of red blood cells. This can also occur if your cells don't have a correct amount of hemoglobin. While in Sickle Cell Anemia, the number of red blood cells is always low, because these sickle cells don't live for a long time, meaning that they only live for an amount of 10-20 days.

How Does One Get It?

Sickle Cell Anemia is a lifelong, inherited disease. What this means is that the people who have contracted this disease, have been born with it. People who have this disease inherit two sickle hemoglobin genes, one from each parent. If a person inherits the gene from one parent but not from the other, they don't have the disease, but they have the trait, meaning that they are carriers and they can transfer this gene onto their future children. Moreover, if one has the disease they can also pass it on to their children through their gene. Below one will be able to find a picture that guides you into what has been aforementioned.


The mutation that happens for this disease to occur, is in the human chromosome 11. (HBB: The Gene Associated with Sickle Cell Anemia).It is a HBB gene that one finds in there, and the HBB gene is the one responsible for the creation of the Sickle Cell Anemia. The HBB gene codes for one of the two-polypeptide chains found in hemoglobin. Normal hemoglobin consists of two alpha chains and two beta chains, while the HBB gene only codes for the Beta chain making it mutant, and often referred to as Beta globin. The mutant Beta globin is responsible for the sickling of red blood cells seen in Sickle Cell Anemia. Below one will be able to appreciate Chromosome 11 and what the mutation, while on the other picture one will be able to see the difference between normal hemoglobin and mutant hemoglobin.

Chrom11.gif HBBmutseq_2.gif


Just like any other disease, Sickle Cell Anemia also carries some symptoms that affect some people in a more drastically way than others. Even though the disease it present at the time of birth, some babies may not develop the sign until four months after they are born. The most common symptoms are:

  • Fatigue

  • Shortness of breath

  • Dizziness

  • Jaundice

  • Headaches

  • Coldness in hands and feet

Another very common symptom is the constant pains within the body. It is named Sickle Cell Crises, which affects the joints, bones, abdomens and lungs. It happens when the sickled red blood cells block the blood flow towards the limb and organs. This can cause lots of pain and even severe organ damage. Two types of pain can be cause: acute and chronic. Acute pain is more common because it is sudden and doesn’t last so much. While chronic pain can even last months, and includes severe bone pain that can limit your daily activities.

Who Is At Risk?

This disease is most common in people who are descendants form families in Africa, South or Central America (most commonly in Panama), Caribbean islands, Mediterranean countries (Turkey, Greece and Italy), India and Saudi Arabia. People who are at the most risk are African Americans, since Sickle Cell Anemia appears in 1 out of every 12 African Americans (What Is Sickle Cell Anemia?).


There is one specific benefit that is really important towards this disease, and it is how one detects it. The diagnosis is really simple, since one only needs to have a blood test taken at any point of their lifespan and it will appear if they have the disease or not. Following the diagnosis path, another very important and interesting benefit is that doctors can now identify the disease before birth. This can be done by using a sample of a tissue or a amniotic fluid taken from the placenta. And this test can be done just 10 weeks into pregnancy, so it is really quickly that one can identify the disease in a human.

Even though there is no actual cure for the disease, doctors and specialist are coming up with new medicines and new treatments every day to try and relieve the patient’s pains and other complications that the disease might implicate.

Another benefit is that if your child is at risk of contracting Sickle Cell Anemia, there are centers one can go to and talk with a genetic counselor, so that he/she can explain the implications that all of this brings and may guide you through your child’s life and help you throughout.

The mutation for this disease was discovered by scientists in 1979, so this means that doctors have been experimenting and treating it for more than 30 years know. Having more than 30 years working with the disease means that a lot has been discovered, rather than if it were a newly discovered disease.


In my opinion, the most important limitations that the Sickle Cell disease implicates is that there is no cure for it. So this means that a person who has it, will never be completely cured, although there are treatments one may go to in order the relieve some pain. Other limitations that Sickle Cell Anemia brings with itself, like the complications that can occur (What Is Sickle Cell Anemia?).:

  • Hand-foot syndrome: When the sickle cells block the blood vessels in hand and feet in children. It leads to pain, swelling and fever. Swelling usually begins at the back of hands and feet and slowly moves up to the fingers and toes.

  • Splenic crisis: The spleen is an organ that lies within the abdomen. Usually it filters red blood cells to help fight infections, but sometimes it traps too many of them. This makes the spleen grow large and creates anemia. If the spleen traps too many of the red blood cells, one may need a blood transfusion in order for your body to recover and create more cells.

  • Acute Chest Syndrome: Unfortunately, this is a life-threatening condition that is linked towards Sickle Cell Anemia. It is caused when an infection or a sickle cell is trapped inside a lung. This usually causes chest pain, shortness of breath and fever.

  • Pulmonary Hypertension: It is caused when the blood pressure within the lungs rises. This happens because damage is created into the blood vessels inside the lungs, which makes it hard for the heart to pump blood all throughout the lungs.

  • Delayed Growth and Puberty: Children who have SDA will take a while to grow and will grow later than their friends. It is the same with puberty; they will reach it at and older age than the rest. Adults, who have the disease, are shorter in size than most of the other people.

  • Strokes: People who have this disease may have two different types of strokes. One happens when a blood vessel in the brain is damaged or blocked, and it is more common in children than in adults. The other happens when a blood vessel inside the brain bursts. Any of these two can cause learning problems, paralysis or death.

Finally, you can get ulcers on your legs, and your vital organs may fail, having death as a consequence.


Economic Interaction

The economic impact the Sickle Cell Anemia has on its patients is tremendous. Patients may require hospitalization many times due to all of the consequences that the disease might brings, especially when they’re dealing with a life-threatening situation. Visiting the hospital so many times can be a huge expense to the patients or his/her family. Hospital visits aren’t the only expenditure. Patients receive many treatments in order to feel better and they need to take lots of medicines and antibiotics; medicines and treatments are rarely cheap, so this is another huge expenditure for the patient’s family. Unfortunately, since this disease doesn’t have a cure, patients will have to resort onto treatments and medicine for a whole lifetime, rather than just a period of type (months, years).

Fortunately, this disease doesn’t affect a patient’s intelligence or ability to create and think. This makes it possible for the patient to get a job, that way the patient can make money and hopefully cover for everything that has been used in order to treat them.

Social Interaction

People who suffer from this disease will always be socially active, be it in a positive or negative manner. When talking about negatively, I am talking about bullying. There are people that have no feelings and make people feel bad due to their deficiencies and diseases. For example, a kid who suffers from the Sickle Cell Anemia, may be excluded from many friend groups in school, because they don’t want to hangout with someone who has deformities in their hands or feet. It might be hard to believe, but that is something that happens now days in this generation.

They might be positively active, because at hospital or genetic counselor meetings, patients may meet with other patients and they can get along and talk about how this disease is affecting on their life and how they can try and defeat it. Normally people who have both the same disease talk a lot, because they are living through the same experiences.

People who suffer form the disease can also be excluded completely from social life, but not necessarily because society excludes them. Sometimes SDA attacks so severely, that a patient might be restricted to stay at home or at a hospital at all times and never hang out, so they can only see their family, which is always nice.

Works Cited
“HBB: The Gene Associated with Sickle Cell Anemia.” Human Genome Project Information Genomic Science Program. N.p., n.d. Web. 11 Mar. 2012. <‌sci/‌techresources/‌Human_Genome/‌posters/‌chromosome/‌hbb.shtml>.

“The History of Sickle Cell Disease and Distribution.” Sickle Cell Anemia Foundation of America. N.p., n.d. Web. 11 Mar. 2012. <‌aboutsicklecell/‌index.asp>.

“Sickle Cell Anemia.” Encyclopaedia Britannica Online School Edition. N.p., 2012. Web. 5 Mar. 2012. <‌eb/‌article-9067625?query=Sickle%20Cell%20Anemia&ct=>.

“Sickle Cell Anemia.” TeensHealth. Nemours, n.d. Web. 11 Mar. 2012. <‌teen/‌diseases_conditions/‌blood/‌sickle_cell_anemia.html>.

“What Is Sickle Cell Anemia?” National Lung Heart and Blood Institute. U.S. Department of Health & Human Services , 1 Feb. 2011. Web. 11 Mar. 2012. <‌health/‌health-topics/‌topics/‌sca/>.