Chediak-Higashi syndrome

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Chediak-Higashi syndrome, characterised by normally segmented neutrophils with giant azurophilic granules[1]

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[2].

Clinically affected cattle present with a cluster of signs including albinism and haematological abnormalities including prolonged bleeding times[3] and irregular leucocyte function[4].

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[5].

Laboratory examination of blood samples usually shows abnormal giant granules within neutrophils, eosinophils, renal tubular cells, epithelial cells, and Kupffer’s cells[6].

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.


  1. PathPedia
  2. Yamakuchi H et al (2000) Chediak-Higashi syndrome mutation and genetic testing in Japanese black cattle (Wagyu). Anim Genet 31(1):13-19
  3. Shiraishi M et al (2002) Platelet dysfunction in Chediak-Higashi syndrome-affected cattle. J Vet Med Sci 64(9):751-760
  4. 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
  5. Ayers JR et al (1988) Lesions in Brangus cattle with Chediak-Higashi syndrome. Vet Pathol 25(6):432-436
  6. Merck Vet Manual