Sickle Cell Disease
What is sickle cell disease?
Sickle cell disease (SCD) is an inherited group of disorders characterized by the presence of hemoglobin S (Hb S), either from homozygosity for the sickle mutation (Hb SS) or compound heterozygosity with another beta globin variant (eg, sickle-beta thalassemia, Hb SC disease). The hallmarks of SCD are vaso-occlusive phenomena and hemolytic anemia. Sickle cell trait is a benign carrier condition.
What causes sickle cell anemia?
Sickle cell disease is a lifelong condition that a person is born with.
It is caused by an change in 1 of the genes that makes a part of hemoglobin called "beta globin":
- If a person gets the sickle cell gene from both of their parents, they will have a form of sickle cell disease called "sickle cell anemia."
- If a person gets the sickle cell gene from 1 parent, and a different abnormal beta globin gene from the other parent, they will have another form of sickle cell disease. Examples of these different abnormal genes include "hemoglobin C" and "beta thalassemia."
- If a person gets the abnormal gene from only 1 parent, they will have "sickle cell trait." People with sickle cell trait generally do not have any of the symptoms of sickle cell disease. But they can pass the gene along to their children, and they do have a few small health risks. Sickle cell trait is common because it helps protect people from getting sick from malaria.
WHAT ARE THE SYMPTOMS?
- Infection – People with sickle cell disease are more likely than others to get certain infections.
- Dehydration – This is when the body loses too much water.
- Weather or air conditions
- Travel to high-altitude places – These are places where there is less oxygen in the air, such as mountains. Flying in an airplane might also cause symptoms for people with sickle cell disease. Talk to your doctor about what you can do to prevent problems.
Sickle cell disease can also cause other symptoms and problems, including:
- Severe anemia – "Anemia" is the medical term for having not enough hemoglobin in the blood. It makes people tired or weak. Most people with sickle cell disease have anemia. But in some cases, it can be severe and need treatment.
- Very severe infections, which can be life-threatening
- Lung problems – Symptoms can include trouble breathing, chest pain, asthma, or sleep apnea. (Sleep apnea is when a person stops breathing for short periods during sleep.) Chest pain, trouble breathing, and fever can be a sign of something called "acute chest syndrome." People with acute chest syndrome need to be in the hospital for pain medicine and antibiotics.
- Strokes – A stroke is when a part of the brain is damaged because of a problem with blood flow. This can happen when a blood vessel gets blocked or bleeds. It can be life-threatening and can cause permanent brain damage.
- Open sores on the skin (usually on the legs)
- A problem with the bone in the shoulder or hip – This happens when the bone doesn't get enough blood, leading to pain. In some cases, this can cause permanent damage. Doctors call this problem "osteonecrosis" or "avascular necrosis."
- In males, an erection that lasts too long and is very painful – The medical term for this is "priapism."
What are the tests and treatment for sickle cell anemia ?
Consult your Hematologist to know the tests needed to diagnose or confirm SICKLE CELL ANEMIA .
When should you call the doctor ?
Your HEMATOLOGIST will tell you what to look for and when to call for help.
In general, call right away if the person with sickle cell disease has any of the following problems.
Call for help if the person:
- Has trouble breathing
- Has symptoms of a stroke, such as:
- Severe headache
- Seizure
- Not being able to wake up
- Trouble speaking
- Drooping of the face on 1 side
- Weakness in an arm or leg
- Gets a fever or has other signs of infection (for example, feeling very tired, loss of appetite, stiff neck, headache, trouble breathing, or cough)
- Has pain that doesn't get better after it is treated at home
- Has an erection that lasts longer than 2 to 4 hours
What else people with sickle cell do to stay healthy ?
People with sickle cell disease should:
- See their Hematologist for regular check-ups, treatments, and tests
- Get the vaccines that doctor recommends. Vaccines can prevent certain serious or deadly infections.
- Take good care of themselves, including staying well hydrated, exercising, eating healthy foods, avoiding smoking and air pollution, and getting enough sleep
- Seek support when you need it.