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PKDef - Pyruvate Kinase Deficiency

Hemolytic anaemia


PKDef - Pyruvate Kinase Deficiency

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 : -

Gene involved : PKLR

Tested mutation : c.693+304G>A

Transmission : Autosomal Recessive

Patent :

Notes :

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