Chediak-Higashi syndrome is a rare autosomal recessive genetic disease of cattle.
The disroder is caused by a common gene defect found in many other mammals and is caused by a replacement of a histidine with an arginine residue at codon 2015 of the CHS1 gene, resulting in abnormal haematopoiesis.
This disease has been diagnosed in Hereford and Brangus cattle and usually present with signs of increased susceptibility to bacterial infections, and tendency to bleed excessive post-trauma. Affected cattle are usually incomplete albinos, with gray irises instead of the normal dark brown to black.
Laboratory examination of blood samples usually shows abnormal giant granules within neutrophils, eosinophils, renal tubular cells, epithelial cells, and Kupffer’s cells.
Because of an underlying genetic cause, this disease is difficult to treat and palliative care, such as broad-spectrum antimicrobial therapy may assist recovery of cattle suffering from secondary infections. Affected cattle should be excluded from any breeding programs.
- Yamakuchi H et al (2000) Chediak-Higashi syndrome mutation and genetic testing in Japanese black cattle (Wagyu). Anim Genet 31(1):13-19
- Shiraishi M et al (2002) Platelet dysfunction in Chediak-Higashi syndrome-affected cattle. J Vet Med Sci 64(9):751-760
- Honda N et al (2007) Alteration of release and role of adenosine diphosphate and thromboxane A2 during collagen-induced aggregation of platelets from cattle with Chediak-Higashi syndrome. Am J Vet Res 68(12):1399-1406
- Ayers JR et al (1988) Lesions in Brangus cattle with Chediak-Higashi syndrome. Vet Pathol 25(6):432-436
- Merck Vet Manual