signs of sickle cell disease

Recognizing the Warning Signs

Sickle Cell Disease (SCD) is a group of inherited red blood cell disorders characterized by the presence of an abnormal form of hemoglobin. Recognizing the signs and symptoms of SCD is essential for early diagnosis and management of the disease. This article explores the 14 signs of sickle cell disease, what SCD is, what causes it, the types of SCD, what foods are helpful and the available treatment options like Oxbryta is a once-daily FDA-approved treatment that addresses sickle cell differently—by working directly on hemoglobin to interfere with the process that causes red blood cells to sickle.

14 Signs of Sickle Cell Disease

1. Pain

Pain is the most common and recognizable sign of SCD. Abnormal sickle-shaped cells can block blood flow, causing a sudden, intense pain known as a "sickle cell crisis". This pain can occur anywhere in the body but often affects the chest, abdomen and joints.

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2. Anemia

SCD patients have a shortage of healthy red blood cells, which can cause anemia—a condition characterized by fatigue and a lack of energy due to insufficient oxygen delivery to the body's tissues.

3. Fatigue

Fatigue in SCD stems from anemia, chronic pain and possible organ dysfunction. Those with SCD often experience a persistent tiredness that rest cannot alleviate.

4. Pale Pallor

A decrease in the number of red blood cells can lead to a pale complexion, this can be especially noticeable on the inside of the lower eyelids and the nail beds.

5. Weakness

As SCD affects the oxygen-carrying capacity of the blood, patients may often feel weak or have a diminished ability to perform physical activities.

6. Jaundice

The breakdown of sickle cells can lead to an excess of bilirubin, causing the whites of the eyes and skin to take on a yellowish hue, known as jaundice.

7. Swelling in Hands and Feet

Sickle cell vasculopathy can cause swelling in the hands and feet due to blocked blood circulation, often seen in infants and young children with SCD during dactylitis (swelling of the fingers and toes).

8. Acute Chest Syndrome

Acute chest syndrome is a life-threatening complication that can cause chest pain, cough, fever and difficulty breathing. It is caused by sickling in the chest, which leads to lung injury.

9. Blood Clots

Increased risk of forming blood clots is a concern in SCD because the sickle cells are stickier and more likely to clot, potentially causing dangerous blockages in blood vessels.

10. Stroke

A blockage or a rupture of blood vessels in the brain can lead to stroke. Children and adults with SCD are at an increased risk for both ischemic and hemorrhagic strokes.

11. Vision Problems

The abnormal cells can block the tiny blood vessels in the eyes, damaging the retina and leading to visual impairments or blindness.

12. Priapism

Men with SCD can experience priapism, a painful, unwanted and prolonged erection caused by trapped blood in the penis due to sickled cells.

13. Organ Damage

Over time, the blockage of small blood vessels and the consequent lack of oxygen can damage organs, including the kidneys, liver and spleen.

14. Frequent Infections

Due to spleen damage, individuals with SCD are more susceptible to bacterial infections, which can become life-threatening.

Understanding Sickle Cell Disease

Sickle cell disease results from a genetic mutation in the gene responsible for producing hemoglobin—the protein in red blood cells that carries oxygen throughout the body. When hemoglobin molecules lose oxygen, they can stick together and deform the cell into the characteristic sickle shape. SCD is caused by inheriting two sickle cell genes, one from each parent.

Types of Sickle Cell Disease

There are several types of SCD. Here are the most common ones.

  • Hemoglobin SS Disease: Also known as sickle cell anemia, this is typically the most severe form of the disease.
  • Hemoglobin SC Disease: The individual inherits one sickle cell gene and one gene for an abnormal hemoglobin called “C”. This can be a milder form of SCD.
  • Hemoglobin SB+ (Beta) Thalassemia: It affects the production of beta-globin—one part of the hemoglobin molecule. The severity depends on how much beta-globin the body produces.
  • Hemoglobin SB 0 (Beta-zero) Thalassemia: This form is similar to SS anemia but involves the beta thalassemia gene.

Nutritional Supports for Sickle Cell Disease

Diet can play an integral role in managing SCD. Here are some foods that can help with SCD.

  • Whole grains: Whole grains provide essential nutrients and energy while assisting in maintaining a healthy digestive system.
  • Orange vegetables: These are rich in vitamin A and other antioxidants that can help support the immune system.
  • Dark leafy green vegetables: Dark greens are high in iron and folate which are particularly important for individuals with SCD to prevent worsening anemia.
  • Fruits: Fruits are a great source of hydration, fiber and essential vitamins, particularly helpful in preventing some complications of SCD.
  • Low-fat dairy: Calcium and vitamin D in low-fat dairy products are important in supporting bone health in SCD, which can be at risk due to blood flow problems.
  • Healthy protein: Lean meats, poultry, fish and legumes can help repair tissues and combat fatigue.

Treatments for Sickle Cell Disease

Here are some common treatment options used in SCD.

  • Medications: Various types of medications are used to treat the symptoms of SCD and moderate the disease.
  • Hydroxyurea: It increases the production of fetal hemoglobin, which can decrease the formation of sickle cells.
  • Bone marrow transplant: The only potential cure for SCD, this procedure is limited by donor availability and risk of complications.
  • Blood transfusions: Regular transfusions can reduce the risk of stroke and manage severe anemia.
  • Oxbryta: Oxbryta (chemical name: voxelotor) is a prescription medication used for the treatment of sickle cell disease in adults and children aged 12 years and older. It belongs to a class of drugs called hemoglobin modifiers. Oxbryta works by increasing the oxygen-carrying capacity of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. By doing so, Oxbryta helps prevent the formation of sickled red blood cells, which can cause complications such as pain crises and organ damage in people with sickle cell disease.

Sickle Cell Awareness

Sickle Cell Disease is a life-long condition that demands close medical attention and self-care. Patients benefit from a comprehensive care plan that combines medical treatment, proper nutrition and pain management. Early diagnosis and ongoing management can improve the quality of life and reduce the risk of complications for those with SCD.