Sickle Cell Disease

Sickle cell disease is an inherited disorder of hemoglobin that causes red blood cells to take a sickle (crescent) shape. These cells can block blood flow, causing pain and organ damage, but modern treatment substantially improves outcomes.

Table of Contents

Quick Facts

  • ICD-10: D57
  • Type: Inherited red blood cell disorder
  • Cure available: Bone marrow transplant, gene therapy

Overview

People with sickle cell disease have abnormal hemoglobin (HbS) that distorts red blood cells. The misshapen cells can clog blood vessels and break down faster than normal, causing anemia, pain crises, and progressive organ damage.

Symptoms and Complications

  • Pain crises (vaso-occlusive episodes)
  • Chronic anemia and fatigue
  • Frequent infections (children are at high risk for pneumococcal infection)
  • Acute chest syndrome (lung complication)
  • Stroke (especially in children)
  • Yellowing of eyes (jaundice)
  • Delayed growth in children
  • Splenic sequestration and dysfunction
  • Kidney, eye, heart, and bone complications

Diagnosis

  • Newborn screening in many countries
  • Hemoglobin electrophoresis
  • Genetic testing
  • Blood counts for anemia

Treatment

  • Hydroxyurea — increases fetal hemoglobin, reduces crises
  • L-glutamine, crizanlizumab, voxelotor — newer disease-modifying therapies
  • Blood transfusions for severe anemia or stroke prevention
  • Pain management during crises
  • Antibiotic prophylaxis and vaccinations
  • Bone marrow transplant (potentially curative)
  • Gene therapy (newer curative option)

When to See a Doctor

People with sickle cell disease should follow up regularly with a specialist. Seek emergency care for fever, severe pain, chest pain, sudden weakness, or signs of stroke.

Related Conditions

Anemia

A core feature of sickle cell

 Stroke

Major complication

Frequently Asked Questions

Is sickle cell trait the same as sickle cell disease?

No. Sickle cell trait (one gene) usually causes no symptoms but can be passed to children. Disease (two affected genes) causes the clinical condition.

Can adults benefit from hydroxyurea?

Yes. Hydroxyurea reduces pain crises, hospitalizations, and mortality in adults with sickle cell disease. Many people benefit even years into treatment.

Medical Disclaimer: This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider with questions about a medical condition. If you are experiencing a medical emergency, call your local emergency number immediately.

References

  • National Heart, Lung, and Blood Institute. Sickle Cell Disease.
  • American Society of Hematology. Sickle Cell Guidelines.