Sickler

Sickle Cell Disease (SCD), commonly referred to as sickler in some regions, is a group of inherited red blood cell disorders. The most common type is known as sickle cell anemia (SCA). SCD leads to a modification in the shape of the red blood cell from a smooth, donut shape to a crescent or sickle shape. This change in shape can cause the cells to become stuck in blood vessels, leading to episodes of pain and other complications due to reduced blood flow.

Causes

SCD is caused by a mutation in the HBB gene on chromosome 11. This gene codes for the beta-globin subunit of hemoglobin, the protein in red blood cells that carries oxygen. The mutation leads to the production of abnormal hemoglobin known as hemoglobin S (HbS). When a person inherits two HbS genes (one from each parent), they have SCD. If they inherit one HbS gene and one normal gene, they have sickle cell trait (SCT), which usually presents with no symptoms but can pass the disease to offspring.

Symptoms

Symptoms of SCD can vary and may include anemia, episodes of pain known as sickle cell crises, swelling in the hands and feet, frequent infections, and delayed growth in children. The severity of symptoms can differ greatly from one individual to another.

Diagnosis

Diagnosis of SCD typically involves a blood test to check for the presence of HbS. Newborn screening for SCD is standard in many countries, allowing for early diagnosis and treatment.

Treatment

While there is no cure for SCD, treatments are available to help manage symptoms and reduce complications. These may include medication for pain, vaccinations to prevent infections, and blood transfusions. In some cases, a bone marrow or stem cell transplant may offer a potential cure, though this treatment comes with significant risks.

Epidemiology

SCD affects millions of people worldwide, particularly those of African, Mediterranean, Middle Eastern, and Indian ancestry. In the United States, it is estimated that SCD affects approximately 100,000 Americans.

Complications

Complications of SCD can be severe and life-threatening. They include stroke, acute chest syndrome, organ damage, and increased susceptibility to infections. Regular medical care is crucial for managing the disease and preventing complications.

See also

• Hemoglobinopathy
• Thalassemia
• Genetic disorder