Palafox D, Muñoz-Pérez MJ, Tello-López B, Vichido-Luna MÁ

Language: Spanish
References: 11
Page: 182-185
PDF size: 65.64 Kb.

ABSTRACT

Minkowski Chauffard disease is transmitted in a dominant autosomical pattern; it is caused by abnormal eritrocitary morphology due to specific protein deficiencies. Also known as hereditary spherocytosis, it is the main cause of hereditary haemolytic anemia; it is also characterized by splenomegaly and jaundice. The aim of the report of the disease in two sisters, it is to present the current information available about the disease and correlate it to the integral patient management, including genetic tests and the usefulness of surgery.

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