What is sickle cell anemia?

From the Guidelines

Sickle cell anemia is a genetic blood disorder where red blood cells become crescent or sickle-shaped instead of their normal round form, leading to pain, organ damage, and increased risk of infections. This condition occurs when a person inherits two copies of the mutated hemoglobin gene (HbS), one from each parent, as described in the study by 1. The abnormal hemoglobin causes red blood cells to become rigid and sticky, blocking blood flow in small vessels. Symptoms include painful episodes called crises, fatigue, delayed growth, and susceptibility to infections.

Key Characteristics of Sickle Cell Anemia

• It is an autosomal recessive genetic disorder characterized by the presence of sickle hemoglobin (HbS) in red blood cells, with four main genotypes: HbSS, HbSC, and two types of sickle beta-thalassemia 1.
• The disease is more common in people with ancestry from Africa, Mediterranean regions, the Middle East, and India due to the protective effect the sickle cell trait provides against malaria.
• Treatment typically involves pain management with medications like acetaminophen, NSAIDs, or stronger opioids during crises, as well as hydroxyurea to reduce crisis frequency by increasing fetal hemoglobin production 1.

Management and Prevention

• Blood transfusions may be needed in severe cases, and bone marrow transplants offer a potential cure for some patients. However, transfusions can pose significant challenges, including alloimmunization and iron overload, as discussed in the guidelines by 1 and 1.
• Prevention of complications includes taking folic acid supplements, staying hydrated, avoiding extreme temperatures, and receiving vaccinations against pneumococcal infections and influenza.
• Management of transfusion-related complications, such as hyperhemolysis, is critical to prevent multiorgan failure and death, and may involve the use of IVIg, high-dose steroids, eculizumab, and/or rituximab, as mentioned in the study by 1.

From the Research

Definition and Overview of Sickle Cell Anemia

• Sickle cell anemia, also known as sickle cell disease (SCD), is a hereditary blood disorder characterized by the production of abnormal hemoglobin molecules that cause red blood cells to take on a crescent or sickle shape 2.
• This condition affects millions of people worldwide, particularly those of African, Mediterranean, Middle Eastern, and South Asian descent 2.

Causes and Symptoms of Sickle Cell Anemia

• The primary cause of SCD is a mutation in the gene responsible for producing hemoglobin, the protein that carries oxygen in red blood cells 2.
• This mutation leads to the production of abnormal hemoglobin called hemoglobin S, which causes red blood cells to become stiff and sticky, leading to various health complications 2.
• Patients with SCD may experience recurrent pain, fatigue, anemia, and increased infection susceptibility 2.

Treatment Options for Sickle Cell Anemia

• Treatment options for SCD focus on managing symptoms and preventing complications 2.
• This includes pain management with analgesics, hydration, and blood transfusions to improve oxygen delivery 2.
• Hydroxyurea, a medication that increases the production of fetal hemoglobin, is commonly used to reduce the frequency and severity of pain crises 2, 3, 4.
• Other treatment options include l-glutamine, crizanlizumab, voxelotor, and cell-based therapy, such as bone marrow or stem cell transplants, which can cure select individuals with severe SCD 5, 3, 4.