Sickle Cell Disease
Sickle cell disease is the most common inherited blood disorder in the United States. It is caused by an abnormal type of hemoglobin, a protein inside red blood cells that carries oxygen. The abnormal hemoglobin, called hemoglobin S, causes red blood cells to become fragile and look like crescents or sickles. The abnormal red blood cells deliver less oxygen to tissues in the body and can get stuck in small blood vessels, interrupting healthy blood flow. Sickle cell disease is inherited from both parents. It is more common in people of African and Mediterranean descent.
Symptoms
Most people with sickle cell disease experience painful episodes known as pain crises. Pain crises can cause significant pain in the lower back, legs, joints, and chest. Crises can occur as frequently as every year.
When sickle cell disease becomes severe, symptoms may include:
- Fatigue
- Rapid heart rate
- Shortness of breath
- Poor eyesight or blindness
- Confusion
- Infection of bone, gallbladder, lung, urinary tract
- Joint pain
- Heart or liver failure
Our Program
We offer comprehensive care and the most advanced breakthroughs in treatments that dramatically improve outcomes for patients. We combine clinical care and scientific research with psychosocial services to provide exceptional care. Our team includes expert physicians, advanced practice providers, nurses, and social workers who specialize in sickle cell disease and who expertly manage both the acute and chronic complications that sickle cell disease may cause, as well as its psychosocial challenges. We work collaboratively with physicians from multiple specialties including ophthalmologists, nephrologists, and orthopedic surgeons, and use a shared care model so that all providers are familiar with each patient.
Why Mount Sinai
Our program is one of the largest and most successful in the world, currently providing comprehensive care to 1,500 patients. We customize care for each patient based on health status and needs, and we have extensive experience treating patients with complex disease. There are many distinguishing features of our program, for example:
- We make care easily available without the need for referrals.
- We offer infusion center access to treat acute pain.
- We offer access to new drugs and treatments through clinical trials when appropriate.
- We understand the stress of dealing with a chronic disease and provide lifelong emotional support.
Our clinical care program is part of the Mount Sinai Sickle Cell Disease Center, which also focuses on researching new treatments and searching for therapies that can cure the disease.
Services We Provide
Our services are designed to prevent and manage symptoms and minimize complications. They include:
- Medications for sickle cell treatment
- Hydroxyurea—to reduce the frequency of pain crises and the need for blood transfusions, and to protect organ function
- Crizanlizumab (Adakveo®)—to reduce the frequency of vaso-occlusive crises
- L-glutamine (Endari®)—to reduce the frequency vaso-occlusive crises
- Blood transfusions
- Screening for organ damage from sickle cell disease
- Bone marrow transplant
- Gene therapy
- Immunizations
- Iron chelation
- Pain management
- Pregnancy support
- Genetic screening
- Transition from pediatrics to adult care support
- Referral to specialists
- Social work support
- Research studies/clinical trials
We conduct screening and maintenance on a regular basis to ensure optimal sickle cell disease management, including:
- Hepatitis screening
- Renal function test
- Liver function test
- Pulmonary function tests, if needed
- Referral for echocardiogram from pulmonary hypertension, if needed
- Referral for ophthalmology check-up with retina specialist annually
- Pain management
- Hydroxyurea monitoring
We recommend specific vaccinations to lower the risk of infection, including:
- Influenza (flu) yearly
- H-influenza B (Hib)
- Meningococcal vaccine
- Pneumococcal vaccine
- Hepatitis A and B
We recommend that all patients have a primary care provider and that female patients see a gynecologist annually.
Treatment Options For Cure
While there is no universally effective cure for sickle cell disease, cure can sometimes be achieved with bone marrow transplant and gene therapy.
A bone marrow transplant is a treatment that replaces damaged or diseased bone marrow with healthy bone marrow stem cells from a matched donor.
With gene therapy treatment, an individual’s own bone marrow is modified to correct mutations that cause sickle cell disease. The bone marrow is edited outside of the body in a specialized facility and then given back to the patient. The edited bone marrow replaces the diseased bone marrow, stimulating the patient’s body to make healthy blood and essentially curing the disease.
Mount Sinai is an authorized treatment center for lovotibeglogene autotemcel (Lyfgenia™), one of the first cell-based gene therapies for sickle cell disease, which was approved in December 2023 by the U.S. Food and Drug Administration. This distinction sets us apart as uniquely qualified to administer gene therapy treatment and provide the advanced care necessary for treatment success. Our ability to offer this breakthrough treatment enables us to significantly improve the outlook for patients with sickle cell disease and offer the hope of cure.
The advantages of gene therapy versus bone marrow transplant are that there is no need for a matched donor, and there is no need for immune suppression to prevent rejection. However, high doses of chemotherapy are required to make the procedure work properly, and the treatment is very time intensive.
Both bone marrow transplant and gene therapy have significant risks and side effects and are considered on a case-by-case basis. As a full-service medical facility, The Mount Sinai Hospital has an advanced supportive care service that can address complications.
We are continually investigating new treatment options that are well-tolerated and accessible to many patients. For example, our sickle cell disease team, under the leadership of Jeffrey Glassberg, MD, MA, is working on a new approach to gene therapy that edits DNA inside the body and therefore would not require chemotherapy. This approach, still years away, could cure the disease for all patients.
Research and Clinical Trials
We offer patients with sickle cell disease the opportunity to participate in research studies aimed at improving patient outcomes and quality of life. Our goal is to cure sickle cell disease through collaboration with other leading researchers throughout the United States.
Learn more about our research studies, also known as clinical trials
Our Team
Our team is composed of leading clinicians and researchers who offer comprehensive care and the most advanced breakthroughs in treatments that dramatically improve outcomes for patients.
Jeffrey Glassberg, MD, MA, Director
Susanna Curtis, MD, PhD, Assistant Director
Lawrence Cytryn, MD (Mount Sinai Morningside location only)
Angela Liu, MD
Galia Pollock, MD
Charleen Jacobs-McFarlane, PhD, APRN, ANP-BC (Nurse Practitioner)
Brittany McCrary, MS, AGNP-BC (Nurse Practitioner)
Chassidy Best, RN (Registered Nurse)
Carolyn Hutson, LCSW-R (Social Worker)