May-Hegglin Anomaly
Breed: Mixed Breed
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
General
Disease Name
May-Hegglin Anomaly
OMIA
1608
Gene Name
MYH9
Mutation
c.5521G>A
Test Type
Genetic Disease/Disorder
Details
May-Hegglin Anomaly is considered to be a rare. This disorder of platelet formation is sometimes mistaken for immune-mediated thrombocytopenia. Symptoms include: low platelet count, "enlarged" platelets, and changes in neutrophils - causing prolonged bleeding time and bruising.
Details 2
An 8-year-old female spayed Pug dog was presented for evaluation of cutaneous lesions occurring secondary to immunosuppressive treatment of presumed immune-mediated thrombocytopenia. Abnormal hematologic findings included persistent thrombocytopenia, macrothrombocytes, and variably shaped, often fusiform, blue cytoplasmic inclusions in neutrophils. May-Hegglin anomaly (MHA) was suspected based on the morphologic appearance of platelets and neutrophils. Examination of cells by transmission electron microscopy revealed normal platelet ultrastructure; neutrophil inclusions had features similar to those reported for inclusions in human MHA. Neutrophil function was within normal limits based on flow cytometric analysis. Thrombelastography indicated a prolonged clotting time (r), and PlateletMapping showed a lack of response to 2 ?M ADP compared with a moderate response in the control dog... (From Flatland et al, 2011)
Published
Flatland, B., Fry, M.M., Baek, S.J., Bahn, J.H., LeBlanc, C.J., Dunlap, J.R., Carroll, R.C., Kosiba, D.J., Millsaps, D.J., Schleis, S.E. : May-Hegglin anomaly in a dog. Vet Clin Pathol 40:207-14, 2011. Pubmed reference: 21554370. DOI: 10.1111/j.1939-165X.2011.00320.x.
Body/System/Process
Blood
OMIA Url
Inheritance
AD
Breed Specific Info
Researched Breeds
Pug
HSP Test-Specific Data
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
MYH9
Mutation
c.5521G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Bente Flatland, Michael M. Fry, Seung J. Baek, JH Bahn, Casey J. Leblanc, JR Dunlap, RC Carroll, DJ Kosiba, SE Schleis, and DJ Millsaps. "May-Hegglin anomaly in a dog" Veterinary Clinical Pathology 40
Application in the Breed
Affected animals (n/MHA, MHA/MHA) should not be used for breeding.
Inheritance
AR
FCI Number
-52
GTP Breed
Mixed Breed
Key Comment