Hereditary elliptocytosis is an inherited hemolytic disorder characterized by the presence of elongated red blood cells or poikilocytosis of irregular degrees. Hereditary elliptocytosis shows an autosomal dominant pattern of inheritance with at least 4 genetic loci implicated in…
The mechanical instability resulting from theses horizontal membrane defects is enough to cause haemolytic anaemia. Protein 4.1 or glycophorin C deficiencies are also attributed to the cause of hereditary elliptocytosis.
Clinical symptoms range from an asymptomatic carrier status to various degrees of haemolytic anaemia. Chronic haemolysis in individuals also might accompany with complications such as splenomagaly, early gall bladder disease and jaundice. The disease has no reported sex predilection and is more common in individuals of Mediterranean and African descent.
Diagnosis of the disease is based on the presence of elliptocytes in peripheral blood smear. The diagnosis can be confused with iron deficiency anaemias as the condition also shows the presence of elliptocytes in peripheral blood smear. However it is only less than 25% of the total erithrocytes in iron deficiency anaemias where as it is more than 25%, sometimes up to 60% in hereditary elliptocytosis.
1. Which inherited anaemia is characterised by red blood cells that are smaller than normal, pale in the centre and have a rounder shape? How does it arise, how common, how may the condition be alleviated?
The inherited anaemia is hereditary spherocytosis. HS is caused by disruption of the cytoskeleton due to membrane protein defects. Spherical RBCs are the result of loss of erythrocyte surface area due to spectrin deficiency in the cytoskeletal framework. Spherocytic RBCs are removed rapidly from circulation by the spleen and leads to haemolysis. Spectrin deficiency is often caused due to the impaired synthesis of the protein but sometimes also caused due to deficiency of binding proteins that integrate spectrin into the cell membrane.
Hereditary spheroytosis is considered to be the most common haemolytic anaemia among Northern European descent (Perrotta S,2008). Other ethnic group incidence and ...
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(Pathology Science Essay Example | Topics and Well Written Essays - 1000 Words)
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