Sickle cell anemia

Overview

Sickle cell anemia is a form of inherited blood disorder, sickle cell disease. Sickle cell disease makes red blood cells become a crescent shape. It results from an abnormality in the hemoglobin gene mutation, affecting oxygen, nutrients, and hormone distribution capacity.

Normal red blood cells are round, smooth, and flexible enough to move through a small blood vessel to carry oxygen to the body. Patients with sickle cell disease have red blood cells that are crescent-shaped, stiff, inflexible red blood cells that can get stuck and block blood flow. In addition, crescent-shaped red blood cells have a shorter life expectancy.

There is no cure for most people with sickle cell disease. Treatment of sickle cell disease mainly focuses on preventing and treating the complications.

Symptoms

Sickle cell anemia may have varying symptoms from person to person, and it usually appears between the ages of 5 and 6 months. Most people with sickle cell anemia are more likely to develop new medical issues as they age. Although symptoms may evolve over time, it commonly includes the following:

• Anemia: Sickle cell anemia can be mild, moderate, or severe. Red blood cells typically last for around 120 days before needing to be replaced. In sickle cell anemia, cells self-destruct after 10 to 20 days. If the body cannot produce adequate red blood cells to replenish those that die sooner, it leaves the body low on red blood cells. It may result in exhaustion as the body does not have sufficient oxygen supply. Anemia can cause paler skin and breathing difficulties.
• Episodes of pain: Vaso-inclusive crisis (VOC), also known as an acute pain crisis, is one of the most challenging aspects of sickle cell anemia. The degree of the pain varies and might persist from a few hours to several days. Some may experience it a few times, several dozen or more every year.

The pain occurs when crescent-shaped red blood cells obstruct blood circulation to the chest, abdomen, and joints through tiny blood arteries. Chronic pain can arise from bone and joint degeneration, ulceration, and other causes in some teenagers and adults with sickle cell anemia.

Some patients may require hospitalization if a severe pain crisis occurs. With VOC, the person may experience sudden intense pain with sharp or stabbing feeling in the abdomen, lower back, arms, and legs.

• Swollen hands and feet: Because of an obstruction in blood flow to the extremities, patients with sickle cell disease may develop inflammation in their hands and feet.
• Infections: Vaccinations and antibiotics are regularly given to infants and children with sickle cell anemia to prevent possibly deadly illnesses like pneumonia. Sickle cells can harm the spleen, making it more vulnerable to infections.
• Delay in growth or puberty: Children may not grow as quickly as other children their age or enter puberty later than others due to a lack of healthy red blood cells. Red blood cells are responsible for transporting oxygen and nutrients throughout the body.
• Visual problems: Sickled cells may obstruct the retina’s blood arteries, which can cause retinal detachment. The retina, the part of the eye that interprets visual images, may experience some vision issues, such as seeing bright flashes, obscuration in the eyesight, and a lot of floaters, which are specks, threads, dark spots, and wavy lines that move across the vision.

It is advised to consult a healthcare provider if a child or adult experiences any of the symptoms. Urgent medical assistance may be required in cases of suspected stroke, and the symptoms are such as:

• Unknown cause of numbness
• Intense headache
• Paralysis or weakness on one side of the face, arms, or legs
• Confusion
• Trouble walking or talking
• Sudden change in vision

Children with sickle cell anemia should be closely monitored because they are susceptible to infections. Seek medical assistance immediately if a fever exceeds 101.5 F (38.5 C). Infections commonly begin with a fever and can be fatal if not managed immediately.

Causes

Sickle cell anemia is inherited from one’s biological parents. In this disorder, the gene that helps generate normal red blood cells mutates or alters. The red blood cells use hemoglobin to transport oxygen from the lungs to the rest of the body. The hemoglobin linked with sickle cell anemia causes red blood cells to become hard, sticky, and malformed.
Sickle cell anemia is caused by inheriting the defective hemoglobin protein gene from both biological parents. The parents must possess one copy of the sickle cell gene and convey both copies of the mutated form to the child. People with the sickle cell trait acquire the genetic mutation from one biological parent. They can produce both typical hemoglobin and sickle cell hemoglobin using one regular hemoglobin gene and one modified variant of the gene.
People with sickle cell trait can transfer the gene onto their children. Their blood may include sickle cells, although they are normal and asymptomatic.

Risk factors

According to studies, 1 to 3 million persons in the United States have sickle cell trait, including 8% to 10% of African Americans. People of African, Mediterranean, and Middle Eastern heritage are the most affected by this disease in the U.S.
Both parents must contain the sickle cell trait for a child to be born with sickle cell anemia. If only one parent has sickle cell trait, the child will not be born with sickle cell anemia, but he or she will have a 50% chance of having sickle cell trait.