Laboratory Diagnosis Of Sickle Cell Anemia

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Laboratorinė medicina. 2009,
t. 11,
Nr. 1,
p. 21 -
25

Sickle-cell anemia, also called sickle-cell disease, is a hereditary disorder in which abnormal hemoglobin (HbS) within the red blood cells causes the cells to take on abnormal sickle shapes.
Hemoglobin S results from the substitution of a valine for glutamic acid of the beta globin chain which produces a hemoglobin tetramer that is poorly soluble when deoxygenated. Hemoglobin polymerization, changes in red cell membrane structure and function decreases the ability of the hemoglobin to transport oxygen throughout the body, causes hemolysis and vasooclusion. Multiple vasooclusion events and chronic anemia cause cardiac, pulmonary, genitourinary, sceletal, neurologic, ocular and dermatologic disorders. One complication is phenomena of autosplenectomy. Because of this, these patients have increased susceptibility to infections. The severity of the disease varies from individual to individual and between ethnic groups.
There are various sickling disorders caused by more than 750 structural hemoglobin variants but most of them are rare and of no clinical or hematologic significance.
Hemoglobin structure, laboratory diagnosis of patients with sickle cell disease will be reviewed here. The main laboratory features of sickle cell anemia include variable anemia, reticulocitosis, the presence of Howell- Jolly bodies and target cells indicating hyposplenism or splenic infarction, HbS on hemoglobin electrophoresis and a positive solubility test.

 

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