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Sickle cell anemia in Child
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Sickle cell anemia in Child

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Contributors: Abhijeet Waghray MD, Vivian Wong MD, PhD, Susan Burgin MD, Paritosh Prasad MD
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Synopsis

Sickle cell anemia is an autosomal recessive genetic disease that results in an abnormal β-globin chain of hemoglobin A (hemoglobin S). Sickle cell trait or hemoglobin S trait (heterozygote for mutation) rarely results in significant chronic symptoms. Hemoglobin S homozygotes (sickle cell disease) manifests in infancy and progresses to a chronic disabling disease.

The incidence of sickle cell disease is greatest in individuals of African and Caribbean descent and those from Mediterranean countries such as Turkey, Greece, and Italy.  

Hemoglobin S has diminished solubility, especially when there is low oxygen tension. This diminished solubility results in the characteristic sickle shape of the affected red blood cells, leading to hemolysis and adherence to vascular endothelium, which leads to vascular occlusion, coagulation activation, and subsequent ischemia and tissue necrosis.

Acute presentations include vasoocclusive crises (painful episodes of microvascular occlusion that involve joints, bones, and internal organs such as the spleen, liver, kidneys, and central nervous system; see sickle cell acute pain crisis and acute chest syndrome), hematologic crises (due to pooling of blood in the enlarged spleen), and infectious crises (result from functional asplenia, predisposing to infections from encapsulated organisms).

Chronic clinical manifestations of sickle cell anemia include hemolytic anemia and a variety of systemic symptoms and signs that occur as a result of microvascular occlusion (eg, ischemia, necrosis, splenic autoinfarction). 

Leg ulcers, which can be extremely painful, are considered a marker of disease severity. The shins, dorsal feet, Achilles tendon, or ankles are frequent sites of involvement, as these are areas with little subcutaneous tissue and thin overlying skin with decreased blood flow. Ulcer formation may be spontaneous or may result from local trauma. Sickle cell ulcers are more common in males.

Factors that predispose to ulcer formation are:
  • Vessel obstruction by sickle cells
  • Increased venous and capillary pressure
  • Secondary bacterial infection
  • Decreased oxygen carrying capacity of the blood, leading to peripheral ischemic changes in the skin

Codes

ICD10CM:
D57.819 – Other sickle-cell disorders with crisis, unspecified

SNOMEDCT:
127040003 – Sickle cell anemia

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Last Reviewed: 03/29/2018
Last Updated: 04/03/2018
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Sickle cell anemia in Child
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Sickle cell anemia : Bone pain, Diffuse abdominal pain, Arthralgia, Limb pain, RBC decreased, Recurring episodes
Clinical image of Sickle cell anemia
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