PKDef - Pyruvate Kinase Deficiency / Abyssinian

Race liée: 

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
Symptomes: 
Lethargy, diarrhea, pale mucous membranes, lack of appetite, weight loss, icterus
Age d'aparition: 
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.
Fréquence: 
10% carriers in the studied population (USA and UK)
Gène impliqué: 
PKLR
Mutation testée: 
c.693+304G>A
Transmission: 
Autosomal Recessive