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Benign Disorders of Leukocytes
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Gene L. Gulati, Zoran Gatalica, Bong H. Hyun
May-Hegglin anomaly is a rare autosomal dominant disorder characterized by (a) Döhle bodies-like inclusions in granulocytes and monocytes, (b) poorly granulated giant platelets, and in some cases (c) mild to moderate thrombocytopenia, sometimes with hemorrhagic manifestations. The leukocyte inclusions are larger and more prominent than the Dohle bodies associated with infections, toxic states, pregnancy, and myeloproliferative disorders. Electron microscopic studies reveal that these inclusions consist of spherical particles and randomly distributed rods surrounded by cisternae of rough endoplasmic reticulum. They stain blue with Wright-Giemsa and pink with methyl-green-pyronin, both denoting RNA. Giant platelets are believed to be the result of some defect in megakaryocyte maturation. Thrombocytopenia is often found incidently, as many patients are asymptomatic. However, detailed history does reveal excessive bleeding after tooth extraction, easy bruising, menorrhagia, and unexpected bleeding following surgical procedures in about half of the patients. May-Hegglin anomaly has not been associated with increased susceptibility to infection.
Case 67
Published in Atul B. Mehta, Keith Gomez, Clinical Haematology, 2017
This patient suffers from the May–Hegglin anomaly, a rare, dominantly inherited disorder which runs a benign course. Bleeding manifestations are rare and platelet function studies are essentially normal. Bernard–Soulier syndrome is an autosomal recessive or codominant trait also associated with giant platelets and thrombocytopenia; but there are no neutrophil inclusions, bleeding manifestations are common and platelet membranes lack glycoprotein Ib and fail to aggregate in response to ristocetin.
Hematological problems in the neonate
Published in Prem Puri, Newborn Surgery, 2017
Andrea M. Malone, Owen P. Smith
May–Hegglin anomaly (MHA), Fechtner syndrome, Sebastian platelet syndrome, and Epstein syndrome constitute a group of related disorders with autosomal dominant inheritance and giant platelets.19 Thrombocytopenia is mild; bleeding is infrequent and rarely life-threatening. Döhle-like inclusions within granulocytic cells are often seen on the blood smear. These disorders can also be associated with sensorineural deafness, glomerulonephritis, and cataracts. Platelet function has been reported to be normal in some and impaired in others.
Testing strategies used in the diagnosis of rare inherited bleeding disorders
Published in Expert Review of Hematology, 2023
All patients should undergo a thorough clinical evaluation, including obtaining a detailed personal and family hemostatic history and history of organ-specific disorders (myeloid malignancies, pulmonary fibrosis, renal failure, and hearing loss) (Table 2), documentation of the ISTH BAT bleeding score, and a thorough physical examination including documentation of the Beighton score [12]. Initial laboratory testing should include a careful review of peripheral blood smears and assessment of MPV and morphology (absence of alpha granules results in a gray appearance) and the presence of white blood cell inclusions (Dohle-like inclusions seen in May-Hegglin anomaly) (Tables 1 and 2). In addition, screening coagulation tests (PT/APTT, fibrinogen) and specific tests for VWD (given its high prevalence in the general population) should be performed. After that, the approach will vary with the circumstances previously mentioned.
A new decade awaits sticky platelet syndrome: where are we now, how do we manage and what are the complications?
Published in Expert Review of Hematology, 2022
Jan Stasko, Pavol Holly, Peter Kubisz
The platelet role in hemostasis was identified almost immediately after their recognition as a distinct blood component. The pioneering studies by Schultze and Bizzozero emphasized their participation in thrombus formation and interaction with fibrin. The description of platelet dysfunction with clinical implications followed relatively soon afterward [3]. The link between bleeding tendencies, quantitative (thrombocytopenia), and qualitative (May-Hegglin anomaly) platelet disorders was the first one to be identified in the late 19th and at the beginning of the 20th century, respectively. The possible clinical role of platelet dysfunction in thrombotic disorders was recognized much, in fact, more than half a century later.
High-throughput measurement of human platelet aggregation under flow: application in hemostasis and beyond
Published in Platelets, 2018
Sanne L. N. Brouns, Johanna P. van Geffen, Johan W. M. Heemskerk
Several bleeding disorders are linked to changes in the platelet cytoskeleton (40). So far, only patients with May–Hegglin syndrome have been examined for changes in thrombus formation. This syndrome is linked to a mutation in the gene for non-muscle myosin heavy chain 9 and is characterized by macrothrombocytopenia. On collagen-I, and to a lesser extent on other microspots (15), platelet aggregates from a patient with May–Hegglin anomaly were low in most activation parameters, except for phosphatidylserine exposure, which was comparable to the control level (Table I).