What are the signs and symptoms of sickle cell disease (SCD)?

Updated: May 12, 2021
  • Author: Joseph E Maakaron, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Screening for HbS at birth is currently mandatory in the United States. For the first 6 months of life, infants are protected largely by elevated levels of fetal hemoglobin (Hb F). Sickle cell disease (SCD) usually manifests early in childhood, in the following ways:

  • Acute and chronic pain: The most common clinical manifestation of SCD is vaso-occlusive crisis; pain crises are the most distinguishing clinical feature of SCD

  • Bone pain: Often seen in long bones of extremities, primarily due to bone marrow infarction

  • Anemia: Universally present, chronic, and hemolytic in nature

  • Aplastic crisis: Serious complication due to infection with parvovirus B19 (B19V)

  • Splenic sequestration: Characterized by the onset of life-threatening anemia with rapid enlargement of the spleen and high reticulocyte count

  • Infection: Organisms that pose the greatest danger include encapsulated respiratory bacteria, particularly Streptococcus pneumoniae; adult infections are predominantly with gram-negative organisms, especially Salmonella

  • Growth retardation, delayed sexual maturation, being underweight

  • Hand-foot syndrome: This is a dactylitis presenting as bilateral painful and swollen hands and/or feet in children

  • Acute chest syndrome: Young children present with chest pain, fever, cough, tachypnea, leukocytosis, and pulmonary infiltrates in the upper lobes; adults are usually afebrile, dyspneic with severe chest pain, with multilobar/lower lobe disease

  • Pulmonary hypertension: Increasingly recognized as a serious complication of SCD

  • Avascular necrosis of the femoral or humeral head: Due to vascular occlusion

  • Central nervous system (CNS) involvement: Most severe manifestation is stroke

  • Ophthalmologic involvement: Ptosis, retinal vascular changes, proliferative retinitis

  • Cardiac involvement: Dilation of both ventricles and the left atrium

  • Gastrointestinal involvement: Cholelithiasis is common in children; liver may become involved

  • Genitourinary involvement: Kidneys lose concentrating capacity; priapism is a well-recognized complication of SCD

  • Dermatologic involvement: Leg ulcers are a chronic painful problem

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