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Genetically Confirmed Hereditary Spherocytosis About 3 Cases

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Hereditary spherocytosis, also known as Minkowski chauffard disease, is a constitutional red blood cell disease most common in North Africa with a prevalence of 1/2000. Autosomal dominant transmission. The disease is revealed by a chronic hemolysis chart made of a pallor, an icterus and a huge splenomegaly. The diagnosis is usually confirmed by a globular resistance test or better flow cytometry. It is easier when there is a family history associated with regenerative hemolytic anemia with the presence of spherocytosis. This assessment must be made before any transfusion of globular pellet. The red blood cell has a capacity of deformation and elasticity that ensures its permanence in the blood circulation, red blood cells are limited in their physical performance by genetic irregularities affecting different proteins of the membrane skeleton usually the anykrine, band 3, protein 4, 2 as well as the alpha or beta chains of the spectrin This assessment must be done before any transfusion of globular pellet. If necessary, a genetic study may be proposed to confirm the diagnosis. In this work we report 3 observations of genetically confirmed hereditary spherocytosis in children. The objective of our work is to raise the diagnostic difficulties of hereditary spherocytosis in patients who receive an emergency transfusion before the diagnosis confirmation and who have significant transfusion needs.
Title: Genetically Confirmed Hereditary Spherocytosis About 3 Cases
Description:
Hereditary spherocytosis, also known as Minkowski chauffard disease, is a constitutional red blood cell disease most common in North Africa with a prevalence of 1/2000.
Autosomal dominant transmission.
The disease is revealed by a chronic hemolysis chart made of a pallor, an icterus and a huge splenomegaly.
The diagnosis is usually confirmed by a globular resistance test or better flow cytometry.
It is easier when there is a family history associated with regenerative hemolytic anemia with the presence of spherocytosis.
This assessment must be made before any transfusion of globular pellet.
The red blood cell has a capacity of deformation and elasticity that ensures its permanence in the blood circulation, red blood cells are limited in their physical performance by genetic irregularities affecting different proteins of the membrane skeleton usually the anykrine, band 3, protein 4, 2 as well as the alpha or beta chains of the spectrin This assessment must be done before any transfusion of globular pellet.
If necessary, a genetic study may be proposed to confirm the diagnosis.
In this work we report 3 observations of genetically confirmed hereditary spherocytosis in children.
The objective of our work is to raise the diagnostic difficulties of hereditary spherocytosis in patients who receive an emergency transfusion before the diagnosis confirmation and who have significant transfusion needs.

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