About Sickle Cell Disease
Sickle Cell Trait is a relatively mild condition caused by the presence of a single gene for sickle cell anemia, producing a smaller amount of abnormal hemoglobin and conferring resistance to malaria.
Diagnosis
SCD is diagnosed with a simple blood test. They often find it at birth during routine newborn screening tests at the hospital. Besides, SCD can be diagnosed before birth.
Because children with SCD are at an increased risk of infection and other health problems, early diagnosis and treatment are essential.
You can call your local sickle cell organization to find out how to get tested.
Complications and Treatments
People with SCD start to have signs of the disease during the first year of life, usually around five months of age. Symptoms and complications of SCD are different for each person and can range from mild to severe.
There is no single best treatment for all people with SCD. Treatment options are different for each person, depending on the symptoms.
Cure
The only cure for SCD is bone marrow or stem cell transplant.
Bone marrow is soft, fatty tissue inside the center of the bones where blood cells are made. A bone marrow or stem cell transplant is a procedure that takes healthy cells that form blood from one person—the donor—and puts them into someone whose bone marrow is not working correctly.
There are four approved Sickle Cell Medications by FDA
Hydroxyurea (Droxia, Hydrea, Siklos). Daily hydroxyurea reduces the frequency of painful crises and might reduce the need for blood transfusions and hospitalizations.
L-glutamine oral powder (Endari)
Crizanlizumab (Adakveo)
Voxelotor (Oxbryta)
Bone marrow or stem cell transplants are dangerous and can have serious side effects, including death. For the transplant to work, the bone marrow must be a close match. Usually, the best donor is a brother or sister. They use bone marrow or stem cell transplants only in cases of severe SCD for children who have minimal organ damage from the disease.
Types of Sickle Cell Disease
There are several types of sickle cell disease. The most common are: Sickle Cell Anemia (SS), Sickle Hemoglobin-C Disease (SC), Sickle Beta-Plus Thalassemia and Sickle Beta-Zero Thalassemia.
• Sickle Cell Anemia (SS): When a child inherits one substitution beta-globin genes (the sickle cell gene) from each parent, the child has Sickle Cell Anemia (SS). Populations that have a high frequency of sickle cell anemia are those of African and Indian descent.
• Sickle Hemoglobin- C Disease (SC): Individuals with Sickle Hemoglobin-C Disease (SC) have a slightly different substitution in their beta-globin genes that produces both hemoglobin C and hemoglobin S. Sickle Hemoglobin-C disease may cause similar symptoms as sickle cell anemia but less anemia because of a higher blood count level. Populations that have a high frequency of Sickle Hemoglobin-C disease are those of West African, Mediterranean and Middle Eastern descents.
• Sickle Beta-Plus Thalassemia: Individuals with Sickle Beta Thalassemia (SB) condition also contain substitutions in both beta-globin genes. The severity of the disease varies according to the amount of normal beta-globin produced. When no beta globin is created, the symptoms are almost identical to sickle cell anemia, with severe cases needing chronic blood transfusions. Populations that have a high frequency of Sickle Beta Thalassemia are those of Mediterranean and Caribbean descents.
• Sickle Hemoglobin-D Disease: Through research, hemoglobin D, which is a different substitution of the beta globin gene, has been found to interact with the sickle hemoglobin gene. Individuals with Sickle Hemoglobin-D disease (SD) have moderately severe anemia and occasional pain episodes. Populations that have a high frequency of Sickle Hemoglobin-D disease are those of Asian and Latin American descents.
• Sickle Hemoglobin-O Disease: Hemoglobin O, another type of substitution in the beta globin gene, also interacts with sickle hemoglobin. Individuals with Sickle Hemoglobin- O disease (SO) can have symptoms of sickle cell anemia. Populations that have a high frequency of Sickle Hemoglobin-O disease are those of Arabian, North African and Eastern Mediterranean descents.
There were six types of crises seen in the sickle cell disease subjects, namely :
• Vaso-occlusive,
• Sequestration,
• Infarctive,
• Aplastic,
• Haemolytic and bone pain crises.
• Vaso-occlusive crisis was the most common and haemolytic crises is the least.
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 rarely have any of the symptoms of sickle cell disease (SCD) and live a healthy life.
How Does Someone Get Sickle Cell Trait?
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.
Who Is Affected by Sickle Cell Trait?
SCT affects 1 in 12 Blacks or African Americans in the United States.
SCT is most common among Blacks or African Americans but can be found among people whose ancestors come from sub-Saharan Africa, 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 Sickle Cell Trait 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 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.
National Center on Birth Defects and Developmental Disorders
What Health Complications Are Associated with Sickle Cell Trait?
Most people with SCT do not have any symptoms of SCD, although — in rare cases — people with SCT might experience complications of SCD, such as “pain crises” and, in extreme circumstances, sudden death. We need more research to find out why some people with SCT have complications and others do not.
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 is 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).
How Will a Person Know If He or She Has Sickle Cell Trait?
A simple blood test can be done to find out if someone has SCT.
Testing is available at most hospitals or medical centers, from SCD community-based organizations, or at local health departments.
A small sample of blood is taken from the finger (a “needle prick”) and tested in a laboratory.
If the results of the test reveal that someone has SCT, it is crucial 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 counselor. These professionals have experience with genetic blood disorders. The genetic counselor will look at the person’s family history and discuss with him or her what is known about SCD in the person’s family. It is best for a person with SCD to learn all he or she can talk about this disease before deciding to have children.