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2020, Number 2

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Rev Cubana Hematol Inmunol Hemoter 2020; 36 (2)

Hereditary hemolytic anemias due to erythrocyte membrane defects

Soler NG, Peña LK, Forrellat BM

Language: Spanish
References: 37
Page: 1-19
PDF size: 532.56 Kb.


ABSTRACT

Introduction: The erythrocyte membrane, like the membranes of other cell types, is composed of a lipid bilayer that is stabilized by specific proteins, glycolipids and other specialized molecules. Mutations in the genes that encode and regulate these proteins and their interactions cause changes in the shape of erythrocytes and are the cause of hereditary hemolytic anemias.
Objective: To describe the molecular and clinical peculiarities and the laboratory diagnosis of the main hereditary hemolytic anemias due to defects in the erythrocyte membrane.
Methods: A literature review was carried out, in English and in Spanish, through the PubMed website and the Google Scholar search engine, of articles published in the last ten years. An analysis and summary of the revised bibliography was made.
Information analysis and synthesis: Mutations affecting the erythrocyte membrane are varied and heterogeneous. The effect on the phenotype can be classified into five main categories: hereditary spherocytosis, hereditary elliptocytosis and hereditary pyropoikilocytosis, Southeast Asian ovalocytosis, hereditary acantocytosis, and hereditary stomatocytosis.
Conclusions: Careful observation of erythrocyte morphology in peripheral blood smears and molecular studies allow an accurate diagnosis, in addition to confirming the genotype-phenotype correlation in these diseases.


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