This report is based on extensive clinical, genetic, and treatment data from multiple authoritative sources.(10 data sources · Data coverage: Extensive)

Overview

Sickle cell disease is a chronic hemolytic condition in which red blood cells become misshapen because of a mutation in the HBB gene. This abnormal hemoglobin causes the cells to block small blood vessels, disrupting normal oxygen transport and leading to cell destruction. The disease is inherited in an autosomal recessive pattern and is usually detected early in life by newborn screening programs. It affects approximately 1 to 5 out of every 10,000 people. The severity and specific features can vary considerably from person to person, with some individuals experiencing episodes of pain, severe anemia, or increased risk of infections over a lifetime.

Symptoms & Signs

The clinical presentation of sickle cell disease centers on a chronic hemolytic anemia that is a hallmark of the condition and is nearly always present. Many individuals experience recurrent episodes of pain due to vasoocclusive events, which arise when the sickled red blood cells block small blood vessels. In addition, recurrent infections, jaundice, and laboratory signs such as reticulocytosis highlight the ongoing hemolysis. Over time, complications can extend to other organ systems, with some patients developing iron deficiency anemia, avascular necrosis of the bones, splenic infarctions, and even chronic kidney disease. That not all individuals experience all of these features, and the severity and frequency of symptoms, including intermittent chest pain and bone-related complications, vary considerably between patients.

Causes & Risk Factors

Sickle cell disease is caused by pathogenic variants in the HBB gene, which encodes a critical component of hemoglobin. The mutation leads to the production of abnormal hemoglobin S, a protein that causes red blood cells to distort into a sickle shape under low oxygen conditions. This condition is inherited in an autosomal recessive pattern, meaning that an affected individual must inherit a mutated copy of the gene from each parent. As a result, even though both parents may be carriers of the mutation without showing symptoms themselves, there is a significant risk for their children to manifest the condition if they receive two copies of the altered gene. Families are encouraged to seek genetic counseling to better understand these inheritance risks and discuss options for family planning.

Treatment & Management

Management of sickle cell disease requires a multifaceted approach that incorporates both foundational supportive care and targeted therapeutic interventions. Supportive therapies form the cornerstone of management and include strategies aimed at alleviating pain episodes, preventing infections, and managing anemia. In addition, regular surveillance is an essential part of long-term care, helping to identify potential complications early so that interventions can be promptly initiated. With advances in treatment options, two FDA-approved cell therapies, Casgevy and Lyfgenia, offer innovative targeted treatment options for eligible patients. These therapies are designed to address the underlying genetic defect, although eligibility for such treatments depends on individual factors discussed with a healthcare team. Furthermore, because sickle cell disease can impact multiple organ systems, a multidisciplinary team involving hematologists, primary care providers, and other specialists is important for ongoing management.

Prognosis & Outlook

The prognosis for individuals with sickle cell disease varies widely and is influenced by the severity of symptoms, frequency of vasoocclusive episodes, and the timely access to comprehensive care. With current standards of care and the availability of newer therapeutic approaches, many individuals experience significant improvements in quality of life and live well into adulthood. Outcomes described in medical literature continue to evolve as standards of care improve, and factors such as regular surveillance and multidisciplinary management play critical roles in mitigating complications over time. While the course of the disease is highly variable, patients and families are encouraged to connect with specialists and genetic counselors, and to participate in community support networks, all of which can provide guidance and additional resources for disease management.

Research & Clinical Trials

Sickle cell disease remains an active area of research with numerous ongoing clinical trials investigating new treatment approaches and potential cures. The research field is dynamic, and many studies are currently exploring innovative ways to further improve outcomes for individuals with the condition. Individuals interested in learning more about clinical trials or exploring eligibility for novel therapies are encouraged to consult ClinicalTrials.gov or discuss possibilities with their healthcare team.

sickle cell disease

Patient-Friendly Information

Patient Advocacy Groups

American Bronchoesophagological Association

Dreamsickle Kids Foundation

Sick Cells