About Sickle Cell Disease and trait
Sickle Cell Disease
Haemoglobin (Hb) is the protein that makes blood red. The primary function of haemoglobin is to carry oxygen molecules from the lungs to the tissues and cells around the body. When haemoglobin is affected by an altered gene, it changes red blood cells from a flattened disc to a sickle or crescent shape. People with sickle cell disorder are born with the condition; it is not contagious. It can only be inherited from both parents; each having passed on the gene for sickle cell. The main symptoms of sickle cell disorder are anaemia and episodes of severe pain. In contrast, healthy red blood cells are smooth and move quickly through blood vessels. Sickle blood cells are rigid, inflexible, and tend to clump together, causing them to get stuck in blood vessels as blood clots, thereby blocking blood flow. This can cause pain, blood vessel damage, and a low red blood cell count (anaemia) due to the more fragile nature of sickle blood cells.
These painful episodes are referred to as Sickle Cell Crises. They are treated with strong painkillers such as morphine to control the pain. People with sickle cell are at risk of stroke complications, acute chest syndrome, blindness, bone damage, and priapism (a persistent, painful erection of the penis). Over time people with sickle cell can experience damage to organs such as the liver, kidney, lungs, heart, and spleen. Death can also result from complications of the disorder. Treatment of sickle cell mainly focuses on preventing and treating complications. There are effective treatments that can reduce symptoms and prolong life. Early diagnosis and regular medical care to prevent complications also improve well-being. Sickle cell disease is a life-long illness. The severity of the disease varies widely from person to person.
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Types of Sickle Cell Disease include the following:
• Hemoglobin SS
• Hemoglobin SC
• Hemoglobin SD
• Hemoglobin SE
• Hemoglobin Sβ0 thalassemia
• Hemoglobin Sβ+ thalassemia
In all types of sickle cell disease, at least one of the two abnormal genes causes a person’s body to make haemoglobin S. When a person has two haemoglobin S genes (haemoglobin SS), the disease is called sickle cell anaemia. This is the most common and often most severe type of sickle cell disease. Haemoglobin SC disease and haemoglobin Sβ thalassemia are two other common types of sickle cell disease. Haemoglobin SD and haemoglobin SE are much less common.
Sickle Cell Trait (SCT)
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 SCT usually do not have any of the symptoms of sickle cell disease (SCD) and live healthy lives. If you have the trait, most red cells in the blood are healthy round-shaped cells though some sickle-shaped cells may be present under certain conditions.
People who have inherited one sickle cell gene and one normal gene have SCT. This means the person won’t have the disease but will be a trait “carrier” and can pass it on to his or her children.
Sickle cell trait is found in 1 in 4 West Africans and 1 in 10 Afro-Caribbeans and is also found among people whose ancestors come from the Western Hemisphere (South America, the Caribbean, and Central America); Saudi Arabia; India; and Mediterranean countries such as Turkey, Greece, and Italy. Approximately 3 million people living in the United States have SCT, and many are unaware of their status. It is less common in white Europeans, although with the ever-growing diversity of the population through migration and intermarriage, this will change.
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 SCT on to their children. If both parents have SCT, there is a 25% (or 1 in 4) chance.
• That the child will have SCD. There is the same 25% (or 1 in 4) chance that the child.
• Will not have SCD or SCT. If one parent has SCT, there is a 50% (or 1 in 2) chance.
• That the child will have SCT and an equal 50% chance that the child will not have SCT.
Most people with SCT do not have any symptoms of SCD, although – in rare cases. In their extreme form and in rare cases, the following conditions could be harmful to people with SCT:
• Increased pressure in the atmosphere (e.g., while scuba diving).
• Low oxygen levels in the air (e.g., when mountain climbing, exercising extremely hard in military boot camp, or training for an athletic competition).
• Dehydration (e.g., too little water in the body).
• High altitudes (e.g., flying, mountain climbing, or visiting a city at a high altitude).
The trait is not an illness, but if you are planning to have children, then certain factors must be considered.
What to do next?
• A simple blood test can be done to find out if someone has SCT.
• Testing is expected to be available at most hospitals or local health departments or during our free testing in Africa.
• A small sample of blood is taken from the finger (a “needle prick”) and evaluated in a laboratory.
• If the results of the test reveal 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 SCD runs in his or her family.
The best way to find out if and how SCD runs in a person’s family is for the person to see a genetic counsellor. These professionals have experience with genetic blood disorders. The genetic counsellor will look at the person’s family history and discuss with him or her what is known about SCD in the person’s family. A person with SCD should learn all he or she can about this disease before deciding to have children.