Sickle Cell Disease: Symptoms, Diagnosis and Treatment

Overview

Sickle cell disease is a group of inherited disorders that affect hemoglobin, the protein in red blood cells that carries oxygen. A gene change causes the body to make an abnormal form called hemoglobin S, which makes red blood cells become rigid and crescent (sickle) shaped. These cells can block blood flow, leading to episodes of severe pain, anemia, a higher risk of serious infections, and damage to organs over time, including stroke, lung problems, eye problems, and kidney disease.

More than 100,000 people in the United States and about 8 million worldwide live with sickle cell disease. It is most common in people of African, Middle Eastern, Mediterranean, Central and South American, and South Asian origin or descent. In the United States, about 1 in 365 Black babies is born with sickle cell disease and about 1 in 13 with sickle cell trait. A person has the disease when they inherit two affected hemoglobin genes, one from each parent. If both parents have sickle cell trait, each child has a 1 in 4 chance of having the disease. People who inherit one affected gene have sickle cell trait and are carriers.

In the United States, all 50 states screen newborns, so most people are diagnosed as babies. Treatment has changed meaningfully in recent years, with several medicines that reduce pain crises and, since December 2023, two FDA-approved gene therapies for eligible people 12 and older. These newer options come with real requirements and risks, so care with an experienced hematology team is essential.

Symptoms

Sudden episodes of severe pain (pain crises, also called vaso-occlusive crises) that can last days or weeks
Chronic pain
Fatigue, shortness of breath, or dizziness from anemia
Yellowish skin or eyes (jaundice)
Painful swelling of the hands and feet (dactylitis), often an early sign in young children
Frequent or serious infections
Delayed growth
Chest pain or trouble breathing (possible acute chest syndrome, an emergency)
Stroke warning signs, such as sudden weakness, numbness, or trouble speaking (an emergency)

Diagnosis

Newborn screening: a heel-prick blood test done in all 50 states identifies sickle cell disease and sickle cell trait at birth
Hemoglobin testing: blood tests such as high-performance liquid chromatography, capillary electrophoresis, or isoelectric focusing show whether the body makes hemoglobin S and how much
Trait testing: identifies carriers; genetic counseling is offered when trait is found
Prenatal testing: amniotic fluid or placental samples can diagnose sickle cell disease as early as 8 to 10 weeks into pregnancy

A hematologist typically confirms the diagnosis and leads long-term care.

Treatments

Hydroxyurea: a daily oral medicine, prescribed starting at 9 months old, that reduces sickling and helps prevent pain crises and acute chest syndrome; it should not be taken during pregnancy
L-glutamine: a powder approved for ages 5 and older, linked to fewer pain crises and hospital stays
Crizanlizumab: a monthly IV infusion approved for ages 16 and older that helps prevent pain crises
Blood transfusions: used for severe anemia, stroke, acute chest syndrome, and stroke prevention; regular transfusions can lead to iron overload that needs monitoring
Penicillin and vaccines: daily penicillin lowers the risk of serious bloodstream infections in young children, alongside routine vaccinations
Pain management: over-the-counter pain relievers for milder pain, prescription medicines for severe pain, and complementary approaches like cognitive behavioral therapy
Blood and bone marrow transplant: successful in about 90% of children with a matched related donor, but carries serious risks and is mostly done in children with severe complications
Gene therapies: exagamglogene autotemcel (Casgevy) and lovotibeglogene autotemcel (Lyfgenia) were FDA approved in December 2023 for eligible people 12 and older; Lyfgenia carries a boxed warning about blood cancer risk and requires lifelong monitoring
Note: voxelotor (Oxbryta) was withdrawn from the market in September 2024

Medical Resources

Your Care Plan

A step-by-step guide to navigating your condition, from finding the right doctors to advocating for the care you deserve.

Step 1: Doctors to See

Start with: Your primary care doctor or pediatrician, who can confirm newborn screening results or order hemoglobin testing if you were never screened.

Then seek: A hematologist, ideally at a comprehensive sickle cell center, to manage medications, screening for complications, and decisions about advanced therapies.

Build your team:

Hematologist: for ongoing care, transfusions, and discussions about transplant or gene therapy
Pain management specialist: for chronic pain and a written plan for pain crises
Ophthalmologist: for regular eye checks
Nephrologist or pulmonologist: if kidney or lung complications develop
Genetic counselor: for family planning and understanding trait status
Obstetrician experienced in high-risk pregnancy: if you are planning a pregnancy

Step 2: Advocate for Yourself

People with sickle cell disease too often have their pain doubted in emergency settings. Work with your hematologist to create a written pain plan that describes your usual treatment during a crisis, and bring it with you. Know the emergency signs: a fever above 101.3°F (38.5°C), chest pain or trouble breathing, stroke symptoms, severe pain, or extreme fatigue need care right away. If you are thinking about pregnancy, talk with your hematologist early, since hydroxyurea should not be taken during pregnancy. If you are 12 or older and have frequent pain crises, it is reasonable to ask whether you are a candidate for gene therapy and what the process, risks, and monitoring involve.

Step 3: Your Action Plan

Confirm your exact diagnosis and type (for example, hemoglobin SS or SC) and keep a copy of your test results.
Keep a log of pain episodes, infections, hospital visits, and possible triggers like dehydration or cold.
Build daily habits recommended for prevention, such as drinking plenty of fluids and staying warm.
Ask your hematologist which medicines fit you: hydroxyurea, L-glutamine, or crizanlizumab.
Create a written emergency and pain plan with your hematologist, including the fever threshold that means seek care now.
Stay on schedule for recommended screenings, such as eye exams, and for vaccinations.
If you have frequent pain crises, ask whether transplant or gene therapy evaluation is appropriate, and talk to a genetic counselor about family planning.

Important: This report is educational information, not medical advice. Always consult a qualified healthcare professional for diagnosis and treatment decisions.