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sickle cell anemia

Saturday 31 May 2003

Sickle cell anemia lesions in liver

Sickle cell anemia is caused by substitution of normal hemoglobin (HbA) by hemoglobin S (HbS). When an individual is homozygous for the mutant gene, all the hemoglobin is of the abnormal, HbS, type, and even with normal saturation of oxygen, the disorder is fully expressed (i.e., sickling deformity of all red cells and hemolytic anemia).

In the heterozygote, only a proportion of the hemoglobin is HbS (the remainder being HbA), and therefore red cell sickling and possibly hemolysis occur only when there is exposure to lowered oxygen tension. This is referred to as the sickle cell trait to differentiate it from full-blown sickle cell anemia.

Pathological synopsis

- hepatic anomalies

- pulmonary lesions

- sudden death (16873567, 17525572, 8078054)

  • pulmonary edema (47.6%) (17525572)
  • pulmonary thromboembolism (38.1%) (17525572)
  • fat emboli (33.3%) (17525572)
  • pulmonary hypertension, grades I-IV (33.3%) (17525572)
  • microvascular occlusive thrombi (28.5%) (17525572)
  • right ventricular hypertrophy (33.3%) (17525572)
  • exercise sudden death (3627196)

- acute myocardial infarction (14663284)

- spleni lesions (10091500)

  • splenic infarction
  • splenic sequestration (11305454)
  • acute splenic sequestration (1731518)

Etiology

- sickle cell anemia is the result of mutations of the beta globin gene HBB (MIM.141900) in which the mutation causes sickling of hemoglobin rather than reduced amount of beta globin which causes beta-thalassemia.

The most common cause of sickle cell anemia is Hb S, with SS disease being most prevalent in Africans.

Videos

- Spleen in sickle cell anemia by Washington Deceit

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References

- Haque AK, Gokhale S, Rampy BA, Adegboyega P, Duarte A, Saldana MJ. Pulmonary hypertension in sickle cell hemoglobinopathy: a clinicopathologic study of 20 cases. Hum Pathol. 2002 Oct;33(10):1037-43. PMID: 12395378

Portfolio

  • Focal nodular hyperplasia in sickle cell anemia