May Hegglin Anomaly

May Hegglin Anomaly

1. May- Hegglin anomaly MYH9-related disease

2. May- Hegglin anomaly

3. May- Hegglin anomaly MYH9 mutations cause the inherited macro-thrombocytopenic syndromes of May- Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndrome, collectively referred to as MYH9-related disease.

4. Diagnosis is facilitated by platelet electron microscopy and MYH9 sequencing.

5. MYH9-related disorders   —  Mutations of the nonmuscle myosin heavy chain gene, MYH9, result in hereditary macrothrombocytopenia (although absence of a relevant family history does not rule out the disorder because 35 percent of mutations may be sporadic). These were previously described as four distinct disorders, based on clinical features [ 28,29 ].

6. MYH9-related disorders   The May- Hegglin anomaly is characterized by giant platelets, mild to moderate thrombocytopenia, and basophilic inclusions in the peripheral blood leukocytes. Leukocyte inclusions are similar in appearance to Döhle bodies seen in infection.

7. MYH9-related disorders   Fechtner , Epstein, and Sebastian syndromes are also characterized by macrothrombocytopenia , but vary between each other in terms of the specific appearance of leukocyte inclusi o ns, and the presence or absence of sensorineural deafness, cataracts, and nephritis. These four diagnostic entities are now considered together as the spectrum of MYH9-related disorders [ 30 ]. The risk for extra-hematological manifestations (nephropathy and deafness) is correlated with the specific MYH9 mutation [ 31 ].

8. Reference https://www.ncbi.nlm.nih.gov/pubmed/23007341