Sickle cell disease


Sickle Cell Disease (SCD) is an inherited, lifelong blood disorder that affects the red blood cells. It is caused by an abnormal hemoglobin gene, which can produce crescent-shaped red blood cells that lack the flexibility to pass through small vessels. These cells are prone to clumping and blocking blood vessels, leading to health complications such as anemia, organ damage, pain, and stroke. People with Sickle Cell Disease require frequent monitoring, often lifelong chronic management, and specialized care from a multidisciplinary health team.


The symptoms of Sickle Cell Disease can vary depending on the severity of the condition, but typically include:

  • Painful episodes (known as crises) due to reduced blood flow in the body
  • Frequent infections
  • Anemia (low red blood cell count)
  • Jaundice
  • Delayed growth and development
  • Vision loss
  • Swelling in the hands and feet
  • Abnormal curvature of the spine
  • Tiredness, fatigue
  • Difficulty breathing
  • Abdominal pain
  • Leg ulcers


Sickle cell disease is a genetic disorder in which the body produces abnormal hemoglobin, an oxygen-carrying protein found in red blood cells. The most common cause of sickle cell disease is a mutation in the gene that codes for beta globin, a component of hemoglobin. This mutation causes the globin to be abnormally shaped, resulting in crescent-shaped red blood cells, instead of the usual disc-shaped cells. These sickle cells don’t flow freely through the small vessels of the body and can become stuck, blocking blood flow. This can cause numerous complications, including acute and chronic pain, an increased risk of infection, and stroke.

Risk factors

The main risk factor for Sickle Cell Disease is having a family history of the condition. A person can also be at higher risk if they come from certain ethnic backgrounds, such as African American, Hispanic, Asian, Mediterranean, or Middle Eastern. Other risk factors include living in areas where the disease is particularly common, being of low birth weight, or being exposed to high altitude. Additionally, being born to a mother with the disease can increase a baby’s likelihood of developing Sickle Cell Disease.


Sickle cell disease is often diagnosed through a simple blood test known as a hemoglobin electrophoresis. This test looks at the types of hemoglobin present in the red blood cells. If the test detects a type of hemoglobin called hemoglobin S, then that signifies that the person has sickle cell disease. Other tests that can diagnose sickle cell disease include a sickle cell prep and a complete blood count.


The various subtypes of Sickle cell disease include the following:

  1. HbSS disease (Hemoglobin SS disease): Also known as homozygous sickle cell disease, this is the most common and most severe form of sickle cell disease. It occurs when a person inherits two sickle hemoglobin genes from their parents, one from each parent. Symptoms are usually more severe and frequent.
  2. HbSC disease (Hemoglobin SC disease): This is another common form and occurs when a person inherits one sickle hemoglobin gene and one hemoglobin C gene from their parents. Symptoms are usually moderate and require regular, but less frequent, treatment.
  3. HbSβ thalassemia: This is a rare form of sickle cell disease that occurs when a person inherits one sickle hemoglobin gene, one hemoglobin C gene, and two thalassemia genes (one from each parent). Symptoms are usually mild and may only involve occasional medical treatment.
  4. HbSD disease: This is an extremely rare form of sickle cell disease and occurs when a person inherits one sickle gene, one C gene, and one delta gene (from either parent). There are very few reported cases and symptoms may range from mild to severe.


The treatment options for Sickle Cell Disease vary depending on the severity of the condition and the individual’s age. Generally, treatment will consist of medication, lifestyle changes, and in some cases, a bone marrow transplant.

Medication: Hydroxyurea is the primary medication prescribed for adults with Sickle Cell Disease. It helps reduce the number of episodes of pain a person experiences and lowers the risk of stroke. Other medications, such as pain relievers and antibiotics, may also be prescribed to manage symptoms.

Lifestyle changes: It is important for people with Sickle Cell Disease to stay well hydrated and get regular exercise. Eating a balanced diet, avoiding smoking and alcohol, and limiting physical activity during times of pain are also recommended.

Bone Marrow Transplant: This treatment may be an option for some adults and children with Sickle Cell Disease. It involves replacing the diseased bone marrow with healthy bone marrow from a compatible donor.


To reduce the risk of sickle cell disease, people should be aware of their family’s sickle cell status and be tested for the condition. Additionally, individuals should take steps to ensure good health such as eating a balanced diet, exercising regularly, and maintaining stress levels. People can further reduce their risk of sickle cell disease by taking folic acid supplements, avoiding smoking and drinking, and getting vaccinated for certain infections. Women who may be pregnant should discuss their risk for the disease with their healthcare provider and should also consider being tested for the trait.

Gender differences?

Yes, there are gender-specific differences in the presentation and management of Sickle Cell Disease. For example, women tend to be more prone to painful episodes, more prone to developing complications from the disease, and may require more frequent medical care. Men, on the other hand, are more likely to experience a decrease in red blood cell counts and are more likely to have vaso-occlusive episodes with longer durations. Additionally, men tend to experience higher levels of fever and anemia than women. These gender-specific differences should be taken into account during the presentation and management of Sickle Cell Disease in order to ensure optimal treatment of the condition.


Nutrition plays an important role in the management of sickle cell disease. Eating a balanced and nutritious diet helps maintain energy levels and can reduce the risk of other health problems. Eating a proper diet can also help reduce the frequency and intensity of sickle cell crisis episodes. Nutrients that are most important for those with sickle cell disease include proteins, vitamins, minerals, folic acid and iron. Eating foods that are high in these nutrients can help support healthy red blood cell production and reduce the effects of painful episodes. Additionally, it is important for those with sickle cell disease to avoid dietary triggers such as high-fat and sugary foods, as these can worsen sickle cell symptoms.

Physical Activity

Physical activity can have both positive and negative effects on those suffering from sickle cell disease. Regular physical activity has been shown to decrease the frequency and severity of sickle cell pain crises, improve physical functioning, and even reduce the need for hospitalization. However, strenuous exercise increases the risk of sickling and can worsen the symptoms of sickle cell disease, and can even cause life-threatening dehydration. People with sickle cell disease should therefore consult their doctors before engaging in any physical activity, and should use caution and stay well hydrated if and when they do.

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