Sickle Cell Anemia – Symptoms and Causes

What Is Sickle Cell Disease

Sickle cell disease is a group of inherited blood disorders. The most common type is sickle cell anemia. This condition changes how red blood cells function in the body.

Normal red blood cells are round and can move easily through blood vessels. In people with sickle cell disease, some blood cells become crescent-shaped or “sickled.”

These misshapen cells are stiff and sticky. They can block blood flow and cause serious problems.

Treatment focuses on managing pain and preventing complications. New treatments have shown promise in potentially curing the disease.

How Blood Cells Change

In sickle cell disease, red blood cells take on an unusual shape. Instead of being round and flexible, they form a crescent or sickle shape.

This change happens because of a problem with hemoglobin, the protein that carries oxygen in red blood cells. The abnormal hemoglobin causes cells to:

  • Become rigid and sticky
  • Get stuck in small blood vessels
  • Block blood flow to organs and tissues
  • Break down faster than normal cells

These changes lead to the symptoms and complications of the disease.

Signs and Symptoms

Sickle cell anemia symptoms typically begin to appear when a baby is around 6 months old. The signs vary among different people and may change over time.

Common Symptoms

  • Tiredness (Anemia): Sickle cells only live about 10-20 days instead of the normal 120 days. This short lifespan causes a shortage of red blood cells, leading to fatigue.

  • Pain Episodes: People experience periodic severe pain when sickle-shaped cells block small blood vessels. These pain crises can affect the chest, abdomen and joints.

The pain intensity varies and might last hours or days. Some people have few episodes yearly, while others may have many.

  • Long-term Pain: Some individuals develop ongoing pain from bone and joint damage.

  • Swollen Hands and Feet: When sickle cells block blood flow to the extremities, swelling can occur.

  • Higher Risk of Infections: Damaged spleens from sickle cells make infections more likely. Children often receive special vaccines and antibiotics to prevent serious infections like pneumonia.

Growth and Development Issues

Healthy growth requires adequate oxygen and nutrients, which are carried by red blood cells. With sickle cell anemia:

Age Group Potential Issue
Babies/Children Slowed growth
Teenagers Delayed puberty

Eye Problems

Sickle cells can block tiny blood vessels in the eyes, potentially damaging the retina (the part that processes visual images). This can lead to vision problems over time.

It’s important to note that symptoms can vary greatly from person to person. Some people have mild symptoms, while others experience more severe complications.

When to Get Medical Help

Contact your doctor right away if you or your child shows signs of sickle cell anemia, especially fever or stroke symptoms.

Infections in people with sickle cell anemia can become dangerous quickly. For children with this condition, get medical attention immediately if fever reaches above 101.5°F (38.5°C).

Emergency stroke symptoms that require immediate care:

  • Weakness or paralysis on one side of the face, arms, or legs
  • Confusion or trouble thinking clearly
  • Problems walking or talking
  • Sudden changes in vision
  • Unexplained numbness
  • Severe headache

These warning signs should never be ignored, as fast treatment can prevent serious complications.

What Causes Sickle Cell Anemia

Sickle cell anemia develops due to a genetic mutation affecting hemoglobin production. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body.

When this mutation occurs, it creates abnormal hemoglobin that causes red blood cells to become rigid, sticky, and shaped like crescents or sickles.

The disease follows an inheritance pattern that requires both parents to pass on the sickle cell gene. This pattern works as follows:

  • When both parents pass a sickle cell gene to their child, the child develops sickle cell anemia
  • When only one parent passes the gene, the child has a sickle cell trait
  • People with sickle cell trait are carriers who typically don’t show symptoms

People with sickle cell trait have both normal and abnormal hemoglobin. Their blood may contain some sickle-shaped cells, but they generally don’t experience the symptoms of the disease. However, these carriers can pass the gene to their children.

The mutation specifically affects the instructions for making beta-globin, a component of hemoglobin. This small change has far-reaching effects on how red blood cells function and survive in the body.

Risk Factors

Sickle cell anemia appears when a child inherits the sickle cell gene from both parents. This condition affects certain groups more than others in the United States:

  • People with African ancestry
  • Those from Mediterranean regions
  • Individuals with Middle Eastern heritage

These populations have higher rates of the sickle cell gene in their communities.

Health Problems Related to Sickle Cell Anemia

Sickle cell anemia can cause many health problems throughout the body. These problems happen when sickle-shaped cells block blood flow or break down too quickly.

Brain Issues

When sickle cells block blood flow to the brain, a stroke can occur. Warning signs include sudden weakness in arms or legs, trouble speaking, seizures, or passing out. Strokes require immediate medical help and can be deadly.

Lung Complications

  • Acute chest syndrome – A serious condition with chest pain, fever, and breathing problems
  • Pulmonary hypertension – High blood pressure in the lungs that causes shortness of breath and tiredness

Bone and Joint Problems

Sickle cells can block blood vessels that feed bones. This cuts off the blood supply and can kill bone tissue, especially in the hip. Doctors call this “avascular necrosis.”

Damage to Major Organs

When organs don’t get enough oxygen-rich blood, they can become damaged. The kidneys, liver, and spleen are often affected. The spleen can suddenly trap sickle cells and grow dangerously large, causing pain on the left side of the belly.

Eye and Skin Issues

Problem Description
Vision loss Tiny blood vessels in the eyes can become blocked, leading to blindness over time
Leg ulcers Painful open sores can develop on the legs

Other Complications

  • Gallstones: Form when red blood cells break down too quickly.
  • Priapism: Painful, long-lasting erections that can lead to impotence.
  • Blood clots: Higher risk of clots in deep veins or the lungs.
  • Pregnancy risks: Problems like high blood pressure, blood clots, miscarriage, early birth, or low birth weight babies.

Prevention

Getting genetic counseling before pregnancy is important if you carry the sickle cell trait. A genetic counselor can explain your chances of having a child with sickle cell anemia.

They can also discuss available treatments, prevention strategies, and reproductive options. This information helps you make informed decisions about family planning.


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