Sickle cell disease

Overview

Sickle cell disease is caused by a change in the gene for hemoglobin, the protein that carries oxygen. People with the disease inherit two changed genes, one from each parent.

Sickled cells die early, causing anemia, and stick together in small blood vessels. This blocks blood flow and causes sudden pain and damage to organs. People with sickle cell trait have one changed gene and usually no symptoms.

Symptoms

Symptoms usually start around 5 to 6 months of age.

• Sudden pain crises in the chest, back, arms, or legs
• Feeling tired from anemia
• Painful swelling of hands and feet in babies

Less common

• Yellow eyes or skin
• Frequent infections
• Slow growth
• Vision problems
• A painful erection that won't go away

Look up a symptom: Fatigue · Have sickle cell disease · Pain all over the body · Pain in many joints · Yellow skin or eyes

When to get medical care

Causes

It's inherited. A child gets sickle cell disease when both parents pass on a sickle gene.

Does it spread or run in families?

• It isn't contagious. You can't catch it from someone else.

Who is more likely to get it

• Both parents with sickle cell trait or disease
• Ancestry from Africa, the Middle East, India, the Mediterranean, or Central and South America

Possible complications

• Stroke: Especially in children
• Acute chest syndrome: A lung emergency
• Priapism: A painful erection that won't go away

Diagnosis

All U.S. babies are tested at birth.

Questions you may be asked

• Family history of sickle cell disease or trait

The exam

A blood specialist (hematologist) checks growth, spleen size, and signs of complications.

Tests

Tests:

• Hemoglobin test: Shows sickle hemoglobin. Part of newborn screening.
• Transcranial Doppler: An ultrasound for children that checks stroke risk.

Treatment

Care prevents problems and treats pain and complications quickly.

Self-care

• Drink plenty of water
• Avoid getting too hot or too cold
• Rest and pace yourself
• Take all vaccines and preventive medicines
• Have a pain plan with your care team

Medicines

Several medicines treat different parts of the disease.

OwieClear doesn't give doses: follow the label or your healthcare professional. Medicine names here are examples, not a full list.

Regular blood transfusions can prevent stroke in children at high risk. A bone marrow transplant from a matched donor can cure the disease. Two FDA-approved gene therapies are options for some people.

Prevention

To prevent complications:

• Newborn screening and early care
• Penicillin and all vaccines in childhood
• Yearly stroke screening for children
• Genetic counseling for families

Which doctor treats this

• Start with your primary care provider (family doctor or internist).
• They may send you to a hematologist (blood doctor).

Living with it

• Keep a simple diary of symptoms, triggers, and medicines to bring to visits.
• Bring a list of your medicines and questions to each visit.
• Stay active in ways that feel good to you.
• Get enough sleep and manage stress.
• Long-term illness can affect mood. Tell your doctor if you feel down or anxious.

Support groups and helplines

• Sickle Cell Disease Association of America: Local member groups and help for families.

Back to school, work, or sports

• Most people can keep working or going to school.
• Ask about changes that help, like extra breaks or a flexible schedule. Workers may be covered by the ADA. Students may get a 504 plan.

Children, pregnancy, and older adults

• Children: Fever is an emergency because of infection risk.
• Pregnancy: Needs care from a high-risk team.

Pregnancy and breastfeeding

• If you're pregnant or planning to be, tell your prenatal provider about this condition.
• This condition needs closer checkups during pregnancy. Plan ahead with your doctor.
• Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
• Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
• Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

For caregivers

• Go to visits when you can and take notes.
• Keep a list of medicines, allergies, and doctors in one place.
• Learn the warning signs that need fast care.
• Take breaks and ask for help. Caregivers need care too.

Outlook

With modern care, most children with sickle cell disease live into adulthood, and many live into their 50s or longer. New treatments and cures are expanding.

Getting ready for your visit

Regular visits with a hematologist are important.

What to bring

• Your pain plan
• Medicine list

Questions to ask

• Should I take hydroxyurea?
• Am I a candidate for a transplant or gene therapy?
• What's my plan for fevers and pain?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Sickle cell disease