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Hereditary sickle cell disorder

Certain hereditary blood diseases mainly affect people of African, Caribbean, Mediterranean, Middle Eastern, or Asian descent, including sickle cell anemia.

Hereditary sickle cell disorder

These conditions are called hemoglobin disorders, the most well-known of which are sickle cell disorder (SCD) and beta-thalassemia major. 

Sickle cell disorder originated thousands of years ago in areas where malaria was common, and is one of the most common genetic diseases.

Sickle cell disorder is a group of conditions. The most dangerous (and common) is sickle cell anemia. Most people with sickle cell anemia are of African or Caribbean descent.

What is Sickle cell anemia?

Sickle cell anemia affects red blood cells. Healthy red blood cells are disc-shaped, flexible, and move easily through the blood vessels. 

It contains a protein called hemoglobin, which helps carry oxygen around the body.

In people with sickle cell anemia, hemoglobin does not work as well as it should and red blood cells turn into crescent (sickle) shapes. 

Thus, it may get stuck in the blood vessels and impede blood flow.

How does sickle cell anemia occur?

People are born with sickle cell anemia, which they inherit genetically from their parents.

If both parents have the sickle cell hemoglobin gene, then:

The chance of a child having sickle cell anemia is 1 in 4.

The probability that a child will carry the sickle cell trait without showing symptoms, and here it is known as a carrier or owner of the sickle cell trait, is 2 out of 4.

The chance of a child not carrying the gene is 1 in 4.

If only one of the parents has the sickle hemoglobin gene, the chance of the child carrying the sickle cell gene is 1 in 2. No child will have sickle cell anemia.

Sickle cell anemia test

A simple blood test shows whether or not a person carries the sickle cell gene.

In England, all pregnant women are required to check for sickle cell anemia (either with a blood test or a questionnaire) to see if they carry the gene.

If the pregnant woman is a carrier of the gene, the father of the child is asked to investigate through a blood test. 

There is also a check to see if the unborn child has a sickle cell disorder.

All newborns are tested for sickle cell disorder as part of routine newborn blood tests.

Men and women must know if they are carriers of the disease gene before starting a family, so they have time to obtain information and know the options that can be taken. For more information and advice, you can talk to your doctor.

What are the symptoms?

Symptoms of sickle cell anemia vary from person to person. Common symptoms include:

Attacks of pain (known as a seizure) caused by blood cells sticking in the blood vessels 

— the pain may be in the bones, joints, stomach, and chest

Swollen hands and feet - usually the first symptom of sickle cell anemia in children

Chronic anemia 

– low levels of iron in the blood, which makes one feel tired and short of breath. People with sickle cell anemia should not take in more iron, because their bodies cannot tolerate it.

Jaundice - yellowing of the skin and eyes because the liver is unable to get rid of the dead sickle cells.

Damage over time to the heart, lungs, and liver

People with sickle cell anemia may be more likely to develop infections, such as pneumonia. So they may be prescribed a daily dose of penicillin to protect them.

Where can I go for help and information?

  • the doctor
  • Sickle cell disease clinic
  • Hematology Society

treatment

Extensive medical attention is needed to treat episodes of sickle cell disorder in children (in a doctor's office or in a hospital) because of the risk of infection.

Mild sickle cell disease in adults can be treated at home by staying warm and taking pain relievers, such as paracetamol. If you don't benefit from over-the-counter pain relievers, your doctor may prescribe a stronger medication.

If a person does not succeed in treating the pain at home or develops a fever, they may need treatment in the hospital. Which may include:

  • Strong pain relievers
  • intravenous fluids
  • Antibiotics
  • Oxygen
  • blood transfusion
  • seizure prevention

The following health tips may help prevent an attack in people with sickle cell anemia, and anyone can apply them:

Eat a healthy balanced diet

Exercising regularly - talk to a doctor first, as tiredness or extreme shortness of breath should be avoided

Not smoking - get help to stop smoking

Avoid drinking alcohol

In addition, people with sickle cell anemia should avoid:

Extreme heat or cold, because very high or low temperatures may trigger an attack

Dehydration (not drinking enough water)

doing physical activities in a low-oxygen environment, such as scuba diving, mountain climbing, or sedation

Stress

People with sickle cell anemia or those who carry the sickle cell trait should beware of surgery under anesthesia. 

And to inform the anesthesiologist (or dentist, in the case of dental surgery) that they are sick or that they carry the gene. 

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