Latest update April 20th, 2024 12:59 AM
Jun 12, 2019 News
By Robert E. Fraser R.N. B.S.
Sickle Cell Disease is caused by a gene mutation that affects a patient’s red blood cells, giving them a crescent shape, making them fragile and causing them to lodge in blood vessels. Sickle Cell Disease is inherited when a child receives two sickle cell genes – one from each parent.
A person with sickle cell disease (SCD) can pass the disease or SCT on to his or her children. Sickle shaped cells are not flexible and can stick to vessel walls, causing a blockage that slows or stops the flow of blood.
When this happens, oxygen can’t reach nearby tissues. The lack of tissue oxygen can cause attacks of sudden, severe pain, called Pain Crises. These pain attacks can occur without warning and a person often needs to go to the hospital for effective treatment.
The red cell sickling and poor oxygen delivery can also cause organ damage. Over a lifetime, SCD can harm a person’s spleen, brain, eyes, lungs, liver, heart, kidneys, penis, joints, bones and skin.
This inherited disease is estimated to occur in 1 in 500 African Americans and 1 in 1,400 Hispanic Americans and millions of people worldwide. There is no cure, but the disease can be managed.
Signs and Symptoms
If a person has Sickle Cell Disease (SCD), it is present at birth. But most infants do not have any problems from the disease until they are about five or six months of age. Every state in the United States, The District of Columbia and the U.S territories, requires that all newborn babies receive screening for SCD.
When a child has SCD, the parents are notified before the child develops the symptoms. Some children with SCD will start to have problems early, and some later. Early symptoms of SCD may include painful swelling of the hands and feet known as Dactylitis, fatigue or fussiness from anemia.
The signs and symptoms of SCD will vary from person to person and can change overtime. Most of the signs and symptoms of SCD are related to complications of the disease.
What is Sickle Cell Trait?
Sickle Cell Trait (SCT) is not a disease, but having it means that a person has inherited the sickle cell gene from one of his or her parents. People with Sickle Cell Trait usually do not have any of the symptoms of Sickle Cell Disease (SCD) and live a normal life with a life expectancy similar to that of the general population.
An individual with Sickle Cell Trait is a person of interest in Sickle Cell research. This person is a ‘trait’ carrier and can pass it on to his or her children. People who have inherited one sickle gene and one normal gene have Sickle Cell Trait (SCT). Sickle Cell Trait NEVER lead to Sickle Cell Disease and does not normally need treatment.
Who is affected by Sickle Cell Trait?
Sickle Cell Trait affects one in twelve blacks or African Americans in the U.S.A.
• SCT is most common among blacks or African Americans, but can be found among people whose ancestors come from sub-Saharan African; the Western Hemisphere (South America, the Caribbean and Central America); Saudi Arabia; India and the Mediterranean countries such as Turkey, Greece and Italy.
• Approximately three million people living in the United States have SCT and many are unaware of their status.
What are the chances that a baby will have Sickle Cell Trait?
• If both parents have SCT, there is a 50% (or 1 in 2) chance that the child also will have SCT if the child inherits the Sickle Cell gene from one of the parents. Such children will not have symptoms of SCD, but they can pass the SCT on to their children.
• If both parents have SCT, there is a 25% (or 1 in 4) chance that the child will have Sickle Cell Disease (SCD).
• There is the 25% (or 1 in 4) chance that the child will not have SCT or SCD.
• If one parent has SCT, there is a 50% (or 1 in 2) chance that the child will NOT have SCT.
• This is also important to note, that if one parent has the disease (SCD/SS) and the other parent is free from Sickle Cell (AA), the Child will definitely get the Sickle Cell Trait (SCT).
I invite readers to pay attention to the ‘Likelihood of the offspring’s Genotype.’ Since a child inherits one gene from each parent, you have to multiple the probabilities:
How will a person know if he or she has SCT?
A simple blood test can be done to find out if someone has SCT
• Testing can be done at the hospitals if the equipment is available.
• A small amount of blood is taken from finger (A ‘needle prick’) and evaluated in the Laboratory.
• If the results revealed that someone has SCT, it is important that he or she knows what SCT is, How it can affect him or her and if and how it runs in a person’s family.
The best way to find out if and how SCD runs in the family, is for the person to see a genetic counselor. These professionals have experience with genetic blood disorders.
The genetic counselor will look at the person’s family and discuss with him or her, what is known about SCD in the person’s family. It is strongly advised that a person with SCD learn all he or she can about this disease before deciding to have children.
The Author of this presentation is a Graduate from the New Amsterdam School of Nursing and has practised Nursing in the New York area in clinical and administrative areas in reputable teaching institutions.
He is also involved in an ongoing research in Sickle Cell Anemia in the Family. The aim of this is to ‘Promote Knowledge and Dispel Ignorance.’
The ultimate goal is to prevent Sickle Cell Ailment (SCD) in generations yet unborn (this can be achieved through education). He also conducts in-service education for nurses and teachers in Regions Five and Six, annually.
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