sickle cell anemia
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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
- chronic lobular cholestasis (intrahepatic cholestasis) (#8659557#)
- aggregation of red cells in hepatic sinusoids (perivenular zone)
- thrombi in hepatic sinusoids
- hepatic sinusoidal congestion (sinusoidal dilatation) (#17438649#)
- hepatic sinusoids packeds with sickled red cells
- hepatic sinusoidal erythrophagocytosis (#17438649#)
- erythrocytosis (#17438649#)
- Kupffer cells hyperplasia (#17438649#, #16547846#)
- focal liver-cell necrosis
- lobular pericellular fibrosis
- hepatic granuloma
- secondary hepatic hemosiderosis (#16547846#)
- hepatic vein thrombosis
- crescent-shaped red cells in sinusoids and Kupffer cells
- hemosiderin and ceroid pigment in Kupffer cells
- focal nodular hyperplasia related to local ischemia (#1929517#, #6766634#)
- nodular regenerative hyperplasia of the liver (#855565#)
- hepatic infarction (liver infarction) (#16873567#, #3885690#)
- acute liver failure in sickle cell vaso-occlusive crisis (#8659557#)
- intrasinusoidal sickling (#16547846#)
- chronic liver disease (#17438649#)
pulmonary lesions
- pulmonary hypertension during vaso-occlusive crisis (#17156401#, #12395378#)
- pulmonary embolism (#2316514#)
- sickle cell chronic lung disease (#3336282#)
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
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#