May-Hegglin anomaly (MHA)

LABOKLIN Service ID: 8312

In animals with May-Hegglin-anomaly a persistent thrombocytopenia, i.e. permanent lack of platelets, as well as greatly enlarged and in morphology variably altered platelets are found in hematological diagnosis. Consequently, these animals have prolonged coagulation time when bleeding. In addition, cytoplasmic inclusions (incorrect or excessive protein structures, which are usually found in cells during an infection) can be detected in neutrophils, which may lead to partial impairment of the immune system. These cellular abnormalities are caused by single point mutations in the gene MYH9.

Method

sequencing

Breed list

Pug

Heredity

autosomal recessive

Duration

1-2 weeks after arrival of the sample in the lab