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Sickle cell disease

Background

Overview

Definition
SCD is an autosomal recessive disorder characterized by abnormal hemoglobin production, resulting in chronic hemolytic anemia and end-organ damage.
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Pathophysiology
SCD is caused by a mutation in the sixth amino acid of the β-globin gene. Polymerization of abnormal hemoglobin leads to vascular occlusion and hemolytic anemia, which precipitate a cascade of pathologic events leading to vascular-endothelial dysfunction, functional nitric oxide deficiency, hypercoagulability, increased neutrophil adhesiveness, and platelet activation.
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Epidemiology
In the US, the prevalence of SCD is estimated at 30 persons per 100,000 population.
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Disease course
CNS injury is the most debilitating frequent complication of SCD and includes stroke, silent cerebral infarct, and cognitive impairment. SCD causes vasculopathy (pulmonary hypertension, priapism, and retinopathy) and progressive ischemic organ failure (renal failure, hyposplenism, liver damage, bone disease).
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Prognosis and risk of recurrence
In the US, the median age at death is 42 years for females and 38 years for males. HSCT is the only curative treatment, but is not feasible for the vast majority of patients suffering from the disease.
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Guidelines

Key sources

The following summarized guidelines for the evaluation and management of sickle cell disease are prepared by our editorial team based on guidelines from the American Society of Hematology (ASH 2020) and the National Heart, Lung, and Blood Institute (NHLBI 2014).
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Diagnostic investigations

Screening for complications, stroke: as per NHLBI 2014 guidelines, obtain annual screening for stroke with transcranial Doppler, beginning at age 2 and continuing until 16.
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  • Screening for complications (pulmonary hypertension)

  • Screening for complications (pulmonary disease)

  • Screening for complications (retinopathy)

  • Screening for complications (hepatitis C)

  • Screening for complications (ECG)

  • Evaluation for avascular necrosis

Medical management

Hydroxyurea therapy: as per NHLBI 2014 guidelines, initiate treatment with hydroxyurea in adults with sickle cell anemia who have ≥ 3 moderate-to-severe pain crises associated with SCD during a 12-month period.
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  • Management of nonresponse to hydroxyurea

  • Management of acute complications (vaso-occlusive crisis)

  • Management of acute complications (acute chest syndrome)

  • Management of acute complications (stroke)

  • Management of acute complications (splenic sequestration)

  • Management of acute complications (priapism)

  • Management of acute complications (acute renal failure)

  • Management of chronic complications (proteinuria)

  • Management of chronic complications (avascular necrosis)

  • Management of chronic complications (gallstones)

  • Management of chronic complications (leg ulcers)

  • Management of pain (acute pain)

  • Management of pain (chronic pain)

Therapeutic procedures

Indications for transfusion: as per NHLBI 2014 guidelines, initiate transfusion.
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  • Indications for long-term exchange transfusions

  • Management of long-term exchange transfusion

  • Technical aspects of transfusion

Perioperative care

Prophylactic perioperative transfusions: as per NHLBI 2014 guidelines, transfuse RBCs to increase the hemoglobin level up to 10 g/dL prior to surgical procedures involving general anesthesia.
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Preventative measures

Immunizations: as per NHLBI 2014 guidelines, administer 1 dose of pneumococcal conjugated 13-valent vaccine.
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  • Prevention of invasive pneumococcal disease

Follow-up and surveillance

Indications for referral, neurologist: as per NHLBI 2014 guidelines, refer children with conditional or elevated transcranial Doppler results, to a specialist with expertise in long-term transfusion therapy aimed at stroke prevention.
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  • Indications for referral (nephrologist)

  • Indications for referral (ophthalmologist)

  • Indications for referral (urologist)