Drepanocytosis: Symptoms, Causes, Risk Factors, Complications and Prevention

It is a hereditary form of anemia, a condition in which there are not enough healthy blood cells to carry adequate oxygen throughout the body.

Normally, your blood cells are flexible and round, moving easily through your blood vessels.

Also called  sickle cell anemia, in  sickle cell anemia the red blood cells become stiff and sticky and have the shape of sickles or growing moons.

These irregularly shaped cells can get trapped in small blood vessels, which can slow down or block blood flow and oxygen in some parts of the body.

There is no cure for most people with sickle cell anemia. But treatments can relieve pain and help prevent problems associated with the disease.

Sickle cell symptoms

The signs and symptoms of adrepanocytosis, which vary from person to person and change over time, include:

Anemia: Sickle cells separate easily and die, leaving you without enough red blood cells. Red blood cells usually live about 120 days before they need to be replaced. But sickle cells usually die in 10 to 20 days, leaving a shortage of red blood cells.

Without enough red blood cells, your body can not get the oxygen it needs to feel energized, which causes fatigue.

Episodes of pain: Periodic episodes of pain, called crises, are a major symptom of sickle cell anemia.

Pain develops when sickle-shaped red blood cells block blood flow through small blood vessels to the chest, abdomen, and joints. Pain can also occur in your bones. The pain varies in intensity and can last from a few hours to a few weeks.

Some people only have some episodes of pain. Others have a dozen or more crises a year. If a crisis is severe enough, you may need to be hospitalized.

Some teens and adults with sickle cell anemia also have chronic pain, which can be the result of damage to bones and joints, ulcers, and other causes.

Painful swelling of hands and feet : Swelling is caused by sickle-shaped red blood cells that block the flow of blood to the hands and feet.

Frequent Infections: Sickle cells can damage an organ that fights infections (spleen), leaving it more vulnerable to infections.

Doctors commonly give infants and children immunizations against sickle cell anemia and antibiotics to prevent life-threatening infections , such as pneumonia .

Delay in growth: Red blood cells provide your body with the oxygen and nutrients it needs to grow. A shortage of healthy blood cells causes slow growth in infants and children and delays puberty in adolescents.

Vision problems: The small blood vessels that irrigate your eyes can become clogged with sickle cells. This can damage the retina, the portion of the eye that processes the visual images and causes vision problems.

When to see a doctor?

Although sickle cell anemia is usually diagnosed in childhood, if you or your child have any of the following problems, consult your doctor immediately or seek emergency medical attention:

  • Unexplained episodes of severe pain, such as pain in the abdomen, chest, bones or joints.
  • Swelling in the extremities.
  • Abdominal swelling, especially if the area is sensitive to touch.
  • Fever: People with sickle cell anemia have an increased risk of infection and fever may be the first sign of infection.
  • Pale skin or nail beds.
  • Yellow dye on the skin or the whites of the eyes.
  • Signs or symptoms of stroke.
  • If you notice unilateral paralysis or weakness in the face, arms or legs.
  • Confusion.
  • Problems walking or talking
  • Sudden vision problems or unexplained numbness.
  • Headache.

Causes of sickle cell disease

Sickle cell disease is caused by a mutation in the gene that tells your body to make the red, iron-rich compound that gives blood its red color (hemoglobin).

Hemoglobin allows red blood cells to carry oxygen from your lungs to all parts of your body.

In sickle cell anemia, abnormal hemoglobin causes red blood cells to become stiff, sticky, and misshapen.

The gene for sickle cell anemia is transmitted from generation to generation in a pattern of inheritance called autosomal recessive inheritance. This means that both the mother and the father must transmit the defective form of the gene for a child to be affected.

If only one parent passes the sickle cell anemia gene to the child, that child will have the sickle cell trait. With a normal hemoglobin gene and a defective gene form, people with the sickle cell trait produce normal hemoglobin and sickle cell hemoglobin.

Your blood may contain some sickle cells, but they usually have no symptoms. But they are carriers of the disease, which means that they can transmit the gene to their children.

Risk factor’s

  • For a baby to be born with sickle cell anemia, both parents must have a sickle cell gene.
  • In the United States, it most often affects black people.

Complications with sickle cell disease

Sickle-cell disease can cause a number of complications, including:

A stroke can occur if the sickle cells block the flow of blood to an area of ​​your brain. Signs of stroke include seizures, weakness or numbness of the arms and legs, difficulty speaking suddenly, and loss of consciousness. A stroke can be deadly.

If your baby or child has any signs or symptoms, seek medical treatment immediately:

Acute chest syndrome: This life-threatening complication causes chest pain, fever, and shortness of breath. Acute chest syndrome can be caused by a lung infection or by sickle cells that block the blood vessels of the lungs.

May require emergency medical treatment with antibiotics and other treatments.

Pulmonary hypertension :  People with sickle cell anemia can develop high blood pressure in their lungs (pulmonary hypertension). This complication usually affects adults instead of children. Shortness of breath and fatigue are common symptoms of this condition, which can be fatal.

Organ damage: Sickle cells that block the flow of blood through the blood vessels immediately deprive the affected organ of blood and oxygen.

In sickle cell anemia, the blood is also chronically low in oxygen. Chronic deprivation of oxygen-rich blood can damage nerves and organs in your body, including the kidneys, liver and spleen. Damage to organs can be fatal.

Blindness: Sickle cells can block small blood vessels that supply your eyes. Over time, this can damage the portion of the eye that processes the visual images (retina) and lead to blindness.

Ulcers in the legs : Sickle-cell anemia can cause open sores, called ulcers, in the legs.

Gallstones:  The decomposition of red blood cells produces bilirubin. A high level of bilirubin in your body can lead to gallstones.

Priapism : Men with sickle cell anemia can have painful and long-lasting erections, a condition called priapism. As in other parts of the body, sickle cells can block the blood vessels in the penis. This can damage the penis and lead to impotence .

Prevention

If you have the sickle cell trait, consulting a genetic counselor before trying to conceive can help you understand your risk of having a child with sickle cell anemia. He or she can also explain possible treatments, preventive measures and reproductive options.