Sickle Cell Disease

By Stian Osteng Reisaeter

What is it?

Sickle cell disease (SCD) or Sickle cell anaemia (SCA) is a group of genetically passed down blood disorders. This disorder turns healty red blood cells into abnormal sickle shaped red cells. Due to the shape of the sickle blood cells, occlusion in blood vessels occour, tissue infarctions, joints and abnormal pain among other problem

Cause

SCD is an inherited disease, meaning you can only get from your parents and it is not possible to get like catching a cold. People who have SCD inherit two abnormal hemoglobin genes, one from each parent. There are several forms of SCD, where at least one of two abnormal genes causes a person's body to make hemoglobin S. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. When a person has two hemoglobin S genes (Hemoglobin SS) the disease is called Sickle Cell Anemia, which is the most common and often most severe kind of SCD. It is an autosomal recessive gene, where you need to be homozygous for recessive to both be a carrier and affected by the disease. The disease is not harmful for people who are heterozygous for the trait, but are still carriers. It is not a sex linked gene and is not non disjunctional. The only way to get SCD is if your parents have it or are carriers.

Facts

The area where SCD is most common and with the highest frequency is found in tropical regions, particulary sub-Saharan Africa, tribal regions in India and Middle-East. Due to migration from countries with a hig frequency, in the Middle-East/Africa, to low frequency in Europe, has dramatically increased the SCD in Euorpean countries over the past years. It is more common to get the disease for people whose ancestors lived in tropical and sub-tropical regions. Only in Africa, the carrier frequency of newly born children range beteen 10% - 40%. There is no gender specific, and the chance for getting it is only if both parents are carriers.

Symptoms

Most symptoms do not appear until an infant is at least 4 months old and most symptoms are:
Anemia: Sickle cells are fragile, meaning they break easily and die, leaving the person with not enough red blood cells. Sickle cells die after 20 days, instead of 120 days, leading to low oxygen in your body and often leads to fatigue.

Episodes of pain: Periodic episodes of pain occur when the sickle cells gets stuck and slows down the blood flow in the body. It can jam up tiny blood vessels in your chest, abdomen, joints and bones. The pain may vary from a few hours to a few weeks at a time. Some only has it a few times a year, while others have it regulary throughout a year with several painful episodes.

Hand-foot syndrome: Swollen hands and feet are often the first sign of sickle cell anemia in babies. It is caused by sickle cells blocking blood flow in their hands and feet.

Frequent infections: Sickle cells can damage your spleen, an organ that fights infection. This leads them more vulnerable to infections. Antibiotics and vaccinations to prevent sickle cells to attack the spleen.

Delayed growth: Red blood cells provide the body with oxygen and important nutrients that the body requires to grow. Often people with SCD have slowed down growth rate espially in infants children and delay puberty in teenagers.

Treatment

There are only one cure (2016) available for Sickle cell disease, but there exist severeal ways of treatment for the disease. HSCT (Hematopoietic stem cell transplantation) is the only way. Unfortunately, most people with SCD are either too old for the transplant or do not have a relative who is good enough genetic match for them to act as a donor. It is needed a well-matched donor in order to get the best chance for successful transplant.

The disease is life-lasting and life-ending. Today, people affected by SCD are expected to live to about 40-60 years, while back in 1973, the average lifespan was only about 14 years. Early diagnosos and regular medical care prevent complications later on in life and improve well-being.


A blood test is the only way for born infants or grown ups. There are also a posibility by taking a sample of the fluid surrounding the baby in the mother's womb to look for sickle cell gene.

Celebrities

SCD is an inherited disease, meaning you cannot catch it like a cold. You cannot help it if you are born with, and millions are affected by it daily. Celebrities such as Larenz Tate, Tionne "T-BOZ" Watkins, Prodigy, Paul Williams, Miles Davis, Tiki Barber, Ryan Clark, and Santonio Holmes are affected by it.

Interesting facts

- One in every ten African-American has sickle cell trait, and one in five-hundred has sickle cell disease.

- Approximately, 100'000 people have sickle cell disease, and 2 million people have sickle cell trait in The United States

- SCD is tought to have developed in areas of the world where malaria is present, because sickle cell trait provides some protection from malaria.

- SCD affects people of many ethnecities, including those of Africn, Middle Eastern, Latino, Asian, Indian, and Medittaranean decent. However, the majority affected is African-Americans.
There is still no universal cure for sickle cell disease.