Macrothrombocytopenia (MTC)

Macrothrombocytopenia (MTC) is a hereditary disorder in the formation of platelets... more
Macrothrombocytopenia (MTC) is an inherited (congenital) disorder in the formation of blood platelets (thrombocytes), which play an important role in blood coagulation. Symptom of hereditary MTC is a reduced number of platelets (thrombocytopenia). In addition, many of the remaining platelets are enlarged. Two causing variants have been identified in the ß1-tubulin gene.
One of the two mutations is inherited in an autosomal recessive manner. The platelet count of carrier animals does not differ from free animals. This variant has been found in the breeds Cairn Terrier, Norfolk Terrier. The other mutation is autosomal-dominant (intermediate), already one copy of the gene is sufficient to express an MTC. In heterozygous affected dogs the platelet count is between those of homozygous affected and free animals. This variant has so far been described in the following breeds: Bichon Frize, Boxer, Cavalier King Charles Spaniel, Chihuahua, Cocker Spaniel, Havanese, Jack Russell Terrier, Labrador Retriever, Maltese, Parson Russell Terrier, Poodle and Shih Tzu.
Affected dogs are not prone to bleeding, but there is a risk of mistreatment, since the above signs can also be mistaken for acquired thrombocytopenia, which can be triggered by infections, medication or immune reactions, for example. The genetic test is therefore important as method of differential diagnosis, since antibiotics or corticosteroids are inappropriate to treat hereditary macrothrombocytopenia.
американский кокер-спаниель, бишон фризе, боксер, керн-терьер, кавалер-кинг-чарльз-спаниель, чихуахуа, английский кокер-спаниель, гаванский бишон (хаванез), джек-рассел-терьер, лабрадор-ретривер, мальтийская болонка (мальтезе), карликовый пудель, норфолк-терьер, парсон-рассел-терьер, пудель, ши-тцу, той-пудель
Тип наследования
Длительность теста
1-2 weeks after arrival of the sample in the lab
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