Sickle Cell Disease and Trait
What is Sickle Cell Disease?
Sickle Cell Disease is a genetic condition present at birth. Anyone with SCD has sticky blood cells that look like the C-shaped farm tools called ¨sickles¨. These cells die early, which leads to a constant shortage of red blood cells in the body. When the affected cells travel through small blood vessels, they tend to get stuck and cause clogs. These clogs cause an immense amount of pain that the sickle cell disease carriers experience.
Hemoglobin is a special protein in red blood cells that carries oxygen from the lungs to the rest of the body. If you have SC Disease or Trait, these blood cells become sickled. Hemoglobinopathy is a term used to describe disorders caused by the presence of abnormal hemoglobin production in the blood.
How is it inherited?
Sickle Cell Disease is inherited when a child receives two sickle beta-globin genes, one from their parents. If both parents have the trait, there is a 50% chance of their child inheriting sickle cell anemia, one of the many types of SCD. There are five types of sickle cell disease:
If both parents have (HbAS) sickle cell trail, there is a 1/4 (25%) chance that the children would be born with sickle cell anemia. There is a 50% chance that any of their children will get the trait. If one parent has the trait and the other the disease, there is a 50% chance that any given child will get the trait and a one in two chance of getting sickle cell anemia.
There are three main variations of this disease:
Symptoms:
How does an individual know if they have Sickle Cell?
To determine if you carry the trait or have the disease, you can take a blood test. In most cases, babies go through a newborn screening test, which determines if they have diseases like sickle cell. If you did not get this test as an infant, blood tests are given to adults at hospitals or SCD departments.
Are there health complications with SC Trait?
In most cases, there are no medical complications. In some circumstances, carriers can experience blood in their urine, but it is rare. When exposed to extreme, conditions carriers might experience some minor complications. Examples of extreme conditions are high altitude, extreme dehydration, and intense physical activity.
What are the risks when having children?
If both parents have SC Trait, there is a:
75% (3 in 4) chance that your baby won't have Sickle Cell Disease.
50% (1 in 2) chance baby will have SC Trait.
25% (1 in 4) chance that your baby WILL have Sickle Cell Disease.
25% (1 in 4) chance that your baby won't have Sickle Cell Disease or Trait.
Sickle Cell Disease is a genetic condition present at birth. Anyone with SCD has sticky blood cells that look like the C-shaped farm tools called ¨sickles¨. These cells die early, which leads to a constant shortage of red blood cells in the body. When the affected cells travel through small blood vessels, they tend to get stuck and cause clogs. These clogs cause an immense amount of pain that the sickle cell disease carriers experience.
Hemoglobin is a special protein in red blood cells that carries oxygen from the lungs to the rest of the body. If you have SC Disease or Trait, these blood cells become sickled. Hemoglobinopathy is a term used to describe disorders caused by the presence of abnormal hemoglobin production in the blood.
How is it inherited?
Sickle Cell Disease is inherited when a child receives two sickle beta-globin genes, one from their parents. If both parents have the trait, there is a 50% chance of their child inheriting sickle cell anemia, one of the many types of SCD. There are five types of sickle cell disease:
- The most common hemoglobin SS
- Hemoglobin SC
- Sickle beta zero thalassemias
- Sickle beta plus thalassemia
If both parents have (HbAS) sickle cell trail, there is a 1/4 (25%) chance that the children would be born with sickle cell anemia. There is a 50% chance that any of their children will get the trait. If one parent has the trait and the other the disease, there is a 50% chance that any given child will get the trait and a one in two chance of getting sickle cell anemia.
There are three main variations of this disease:
- Sickle Cell Anemia (Also known as Hb SS or Homozygous Sickle Cell Disease)
- Sickle Hemoglobin C Disease (Also known as Hemoglobin Hb SC Disease)
- Sickle Beta Thalassemia Disease (Sickle Beta Plus Thalassemia and Sickle Beta Zero Thalassemia Disease)
Symptoms:
- Pain in many parts of the body.
- Cold, stress, illness, or not drinking water can cause pain.
- Pain can last for days, hours, or even longer.
- Paleness
- Tiredness
- Dizziness
- Sometimes pain can be helped at home, but if it gets severe, then hospital care is needed.
How does an individual know if they have Sickle Cell?
To determine if you carry the trait or have the disease, you can take a blood test. In most cases, babies go through a newborn screening test, which determines if they have diseases like sickle cell. If you did not get this test as an infant, blood tests are given to adults at hospitals or SCD departments.
Are there health complications with SC Trait?
In most cases, there are no medical complications. In some circumstances, carriers can experience blood in their urine, but it is rare. When exposed to extreme, conditions carriers might experience some minor complications. Examples of extreme conditions are high altitude, extreme dehydration, and intense physical activity.
What are the risks when having children?
If both parents have SC Trait, there is a:
75% (3 in 4) chance that your baby won't have Sickle Cell Disease.
50% (1 in 2) chance baby will have SC Trait.
25% (1 in 4) chance that your baby WILL have Sickle Cell Disease.
25% (1 in 4) chance that your baby won't have Sickle Cell Disease or Trait.
Pregnancy:
Planning on having a baby?
If a woman with SCD is planning on having a baby, her partner should also get tested for Sickle Cell Disease or Trait. If the woman only has the trait, there is a more negligible risk of complications during pregnancy. However, if the father also carries the trait, the baby may be affected. From an early point, prenatal care is critical and will help with the pregnancy.
During pregnancy, some women may have a blood transfusion to replace sickle cells with healthy blood cells. This process can be done multiple times throughout the pregnancy and will help carry oxygen to lower the number of sickled cells in the body.
Complications of SCD in pregnancy?
- Infections
- Heart failure from anemia
- Miscarriage
- Death
- Gallbladder problems
Complications in a developing baby?
- Severe cases of anemia
- Poor fetal growth
- Preterm birth
- Light birth weight
- Newborn death and stillbirth
During pregnancy, with proper prenatal care, most women with SCD have healthy pregnancies. The percentage of having health complications goes up with SCD, including pain episodes, infections, and other adverse effects. Having children with SCD is worth researching because of the risks of complications and impact on the mother's and baby's health.