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Hemolytic anaemia
Description: Lack of the pyruvate kinase enzyme causing an early destruction of red blood cells, leading to an anaemia more or less severe according to individuals
Symptoms : Lethargy, diarrhea, pale mucous membranes, lack of appetite, weight loss, icterus
Age of onset : Variable. Some rare cases declare an early severe form. Anaemia may only be moderate and intermittently detectable. In mild cases, symptoms may be late onset.
Frequency : Not available
Gene involved : PKLR
Tested mutation : c.693+304G>A
Transmission : Autosomal Recessive
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