Introduction:

Membranopathies are inherited hemolytic anemias due to qualitative abnormalities or quantitative deficiencies of red blood cell cytoskeletal proteins.

Objective:

to update the diagnosis of membranopathies with the inclusion of the latest recommendations from the committee of expert groups at the national and international level.

Methods:

A review of the literature in English and Spanish was carried out, through the PubMed website and the academic search engine Google, in articles published in the last five years.

Analysis and synthesis of information:

The diseases of greatest clinical interest are: spherocytocis, elliptocytosis and hereditary stomatocytosis. These are generally inherited with an autosomal dominant character but there are forms that are transmitted recessively, without ruling out a possible de novo mutation. For its diagnosis, tests are used that include the study of red blood cell morphology, osmotic fragility, acidified glycerol lysis, hypertonic cryohemolysis, eosin-5'-maleimide binding test by flow cytometry, sodium dodecyl sulfate polyacrylamide gel electrophoresis and ectacytometry.

Conclusions:

Membranopathies can be preliminarily suspected taking into account some alterations in erythrocyte morphology, although the diagnosis is based on family studies and others confirming the disease, such as molecular studies. Healthcare professionals caring for young patients with anemia should consider the possibility of hemolytic anemia due to red cell membrane disorders.

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