Thrombocytopenia, Giant Platelets, and Leukocyte Inclusion Bodies (May-Hegglin Anomaly): Clinical and Laboratory Findings

The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway

“…9,10 In the May-Hegglin anomaly, macrothrombocytopenia is due to a defect in platelet release by megakaryocytes (MKs) in the bone marrow, but platelets that do form seem to circulate and function normally. [9][10][11] The MYH9-associated syndromes are thus regarded as disorders of thrombopoiesis, 12 and defective myosin-IIA complexes are presumed to perturb some aspect of MK differentiation, likely late in the course of cell maturation.Polyploid MKs accumulate an enormous and complex cytoplasm before they assemble and release blood platelets. Two key processes are thought to govern the timing and execution of platelet release.…”

A Case Report of Bernard-Soulier Syndrome in Differential Diagnosis of Immune Thrombocytopenic Purpura.

“…Patients are subject to misdiagnosis of autoimmune thrombocytopenic instead of hereditary thrombocytopenia and inappropriate therapy, such as steroid treatment and splenectomy. [27][28][29] Proposed definitions of ITP (Table 6) [30] Proposed criteria for assessing response to ITP treatments (Table 7) [30] Individual agents for treatment of ITP and the time to the first and peak responses if using the reported dose range (Table 8) [30] Refractory ITP (Table 9) [30] Here, we report one girl with Bernard-Soulier syndrome (BSS) who missed diagnosed as ITP. She demonstrated typical BSS features such as giant platelets and petechial rash.In Conclusion, Bernard-Soulier syndrome should be considered before the patient is diagnosed with immune thrombocytopenia.…”

Macrothrombocytopenia in North India: Role of Automated Platelet Data in the Detection of an Under Diagnosed Entity

“…Except for Epstein syndrome, the other syndromes also show granulocytic inclusion bodies. The molecular defect in these disorders is located in the MYH9 gene encoding for non-muscle myosin heavy chain IIA [2,3,[10][11][12][13].…”

“…Acquired conditions causing thrombocytopenia are more frequently seen in clinical practice. Earlier considered very rare, congenital macrothrombocytopenia is now being increasingly recognised because of the increasing availability of automated platelet counts and related parameters on hematology analyzers during routine complete blood count processing [1,2].…”