127(26):1134-40. Mayer K, Schildknecht O, von Felten A. The presence of inclusion bodies in leukocytes helps to distinguish May-Hegglin anomaly from immune-mediated thrombocytopenia. MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. 28 (1):58-60.. . Wang Y, Liu S, Zhang Y, Yang J. Myosin Heavy Chain 9: Oncogene or Tumor Suppressor Gene?. Am J Hematol. 78(3):220-6. Rabbolini DJ, Chun Y, Latimer M, et al. [Medline]. Antonio G, Silvia V, Emanuela B, Fabrizio F. Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes). 2018 Jan. [Medline]. Am J Med. 40 (2):187-95. Blut. 1999 Jul. May-Hegglin is an autosomal dominant disorder that was originally described by May (1909) and later by Hegglin (1945). MYH9-related disorder was previously thought to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome.All of these disorders involved thrombocytopenia and enlarged platelets and were distinguished by some combination of hearing loss, renal disease... 1 More on May-Hegglin anomaly » 1997 Jun 28. Sehbai AS, Abraham J, Brown VK. 21(3):247-52. Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy. May-Hegglin anomaly Subscriber Sign In Feedback Select Language Share. Her brother had a low platelet count years prior, diagnosed as “idiopathic thrombocytopenic purpura” and treated by splenectomy. All material on this website is protected by copyright, Copyright © 1994-2021 by WebMD LLC. Months later, the mother visited the emergency room with an upper respiratory infection and had a complete blood count showing mild thrombocytopenia. Chabane H, Gallais Y, Pathier D, Tchernia G, Gaussem P. Delivery management in a woman with thrombocytopenia of the May-Hegglin anomaly type. Mapping of a gene for May-Hegglin anomaly to chromosome 22q. J Thromb Thrombolysis. Ishii A, Honnma T, Ishida M, Sano F, Hamada H, Takayanagi M. Pregnancy complicated by the May-Hegglin anomaly. Dong F, Li S, Pujol-Moix N, et al. 1998 Apr. May-Hegglin Anomaly is a rare, inherited, blood platelet disorder characterized by abnormally large and misshapen platelets (giant platelets) and defects of the white blood cells known as leukocytes. 1990 Nov. 61(5):282-8. Otsubo K, Kanegane H, Nomura K, Ogawa J, Miyawaki T, Kunishima S. Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly. Hematology Am Soc Hematol Educ Program. The inherited diorder i aociated with a platelet deficiency and an abnormal platelet form. 2016 Dec. 9 (4):137-40. 2012 Mar. Hassan M Yaish, MD Medical Director, Intermountain Hemophilia and Thrombophilia Treatment Center; Professor of Pediatrics, University of Utah School of Medicine; Director of Hematology, Pediatric Hematologist/Oncologist, Department of Pediatrics, Primary Children's Medical Center [Medline]. Genotype-phenotype correlation in MYH9-related thrombocytopenia. Burns ER. [Medline]. Bernard–Soulier syndrome (BSS), is a rare autosomal recessive bleeding disorder that is caused by a deficiency of glycoprotein Ib (GpIb), the receptor for von Willebrand factor. [Medline]. Am J Obstet Gynecol. 2017 Dec 8. This website also contains material copyrighted by 3rd parties. [Full Text]. All have a common genetic mutation (MYH9) that encodes for nonmuscle myosin heavy chain IIA that is expressed in platelets, renal cells, granulocytes and the cochlea. Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, International Society of Pediatric OncologyDisclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: CSL Behring. Regulation of platelet biogenesis: insights from the May-Hegglin anomaly and other MYH9-related disorders. Search for a symptom, medication, or diagnosis Use of DDAVP in inherited and acquired platelet dysfunction. Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. 1999 Nov. 105(5):379-83. 2017 Nov 1. [Medline]. The differential diagnosis includes von Willebrand disease, immune thrombocytopenic purpura, May–Hegglin anomaly, thrombocytopenia-absent radius syndrome, grey platelet syndrome, and other inherited giant platelet disorders. [Medline]. [Medline]. May-Hegglin anomaly. [Medline]. May–Hegglin anomaly (MHA), is a rare genetic disorder of the blood platelets that causes them to be abnormally large. Many Blood Work images are provided by the ASH IMAGE BANK, a reference and teaching tool that is continually updated with new atlas images and images of case studies. [Medline]. Ruhoy SM, Yates A. Macrothrombocytopenia with Döhle body-like granulocyte inclusions: a case report of May-Hegglin anomaly in a 33-year-old white woman with an … Fixter K, Rabbolini DJ, Valecha B, et al. Aoki T, Kunishima S, Yamashita Y, Minamitani K, Ota S. Macrothrombocytopenia With Congenital Bilateral Cataracts: A Phenotype of MYH9 Disorder With Exon 24 Indel Mutations. May-Hegglin anomaly v’s another platelet disorder Physician’s Questions 1) Could I rule out or confirm a diagnosis of May-Hegglin anomaly or another platelet disorder. The diagnosis of May-Hegglin anomaly is made by specialized blood tests that reveal giant, oddly shaped platelets and characteristic cellular “inclusions” in certain white blood cells (leukocytes). Copyright © 2006 by The American Society of Hematology, Copyright ©2020 by American Society of Hematology, https://doi.org/10.1182/blood.V108.1.10.10. 2006 Dec. 47(7):968-9. Hereditary macrothrombocytopathia, nephritis and deafness. [Medline]. Clinically, thrombocytopenia in May-Heggelin does not often cause bleeding except with surgery or trauma. The May-Heggllin/Fechtner Syndrome Consortium. 2000 Sep. 26(1):103-5. [Medline]. When checking for a misdiagnosis of May-Hegglin thrombocytopenia or confirming a diagnosis of May-Hegglin thrombocytopenia, it is useful to consider what other medical conditions might be possible misdiagnoses or other alternative conditions relevant to diagnosis. Hereditary thrombocytopenias: a growing list of disorders. 25:888-92. 82(3):203-15. Months later, the mother visited the emergency room with an upper respiratory infection and had a complete blood count showing mild thrombocytopenia. Gary D Crouch, MD Associate Professor, Program Director of Pediatric Hematology-Oncology Fellowship, Department of Pediatrics, Uniformed Services University of the Health Sciences, Gary D Crouch, MD is a member of the following medical societies: American Academy of Pediatrics and American Society of Hematology, Frank E Shafer, MD Associate Professor, Department of Pediatrics, Section of Hematology-Oncology, St Christopher's Hospital for Children, MCP Hahnemann University School of Medicine, Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference. 2018 Apr. Lab Invest. 2007 Mar. Greinacher A, Nieuwenhuis HK, White JG. Normal-sized platelet is also present. • The Peripheral blood smear was sent with a clinical history of “Thrombocytopenia and deafness, ? Chen Z, Shivdasani RA. Am J Hematol. [Medline]. Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP Adjunct Professor of Pediatrics, Albany Medical College The platelet count is decreased, usually between 40,000-80,000mm 3. 89(3):330-7. Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. [Medline]. 83(4):304-6. J Perinat Med. Kamath V, Gnanasekaran KK, Mammen J. MYH9-related disorder, a probable May-Hegglin anomaly case series: A tertiary care experience. Pediatr Blood Cancer. Case P resentation: A 30-year-old Turkish woman was admitted to the Department of Heamatology for evaluation of thrombocytopenia. Image used with permission from Little, Brown. The ICD code D720 is used to code May-Hegglin anomaly May–Hegglin anomaly (MHA), also known as Dohle leukocyte inclusions with giant platelets and macrothrombocytopenia with leukocyte inclusions, is a rare genetic disorder of the blood platelets that causes them to be abnormally large. Since in the May-Hegglin anomaly the megakaryocyte n u m b e r is normal and the platelet survival time is not shortened [7, 10, 13], a platelet production defect seems to be likely. 2001 Nov. 99(1):124-5. J Thromb Haemost. Differential diagnosis between immunological thrombocytopenia and GPDs is important. Saito H, Kunishima S. Historical hematology: May-Hegglin anomaly. Mean platelet diameter measurements to classify inherited thrombocytopenias. Giant platelets containing few fine granules are also characteristic of May-Hegglin anomaly. Nat Genet. Her platelet count was 54 × 109/L, and the preoperative platelet count that was not evaluated was 85 × 109/L. [Medline]. The incidence of BSS is estimated to be less than 1 case per million persons, based on cases reported from Europe, North America, and Japan. 2001 Nov. 69(5):1033-45. Objective.—To provide both a detailed description of the laboratory tests available in the diagnosis of platelet disorders and a testing algorithm, based on platelet count, that May-Hegglin anomaly and gray platelet syndrome). Fatima S. May hegglin anomaly: rare entity with review of literature. 2003 May. Pujol-Moix N, Kelley MJ, Hernandez A, Muniz-Diaz E, Espanol I. Ultrastructural analysis of granulocyte inclusions in genetically confirmed MYH9-related disorders. 2008 Apr. This is an autosomal dominant disorder resulting in thrombocytopenia with giant platelets, with Dohle body-like inclusions most evident in the neutrophils but also seen in monocytes and eosinophils. Table 1 lists the differential diagnosis of bleeding and bruising disorders. Hassan M Yaish, MD is a member of the following medical societies: American Academy of Pediatrics, New York Academy of Sciences, American Medical Association, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Michigan State Medical SocietyDisclosure: Nothing to disclose. [Medline]. Schweiz Med Wochenschr. Trilobed neutrophil contains large, well-defined, basophilic, peripherally placed cytoplasmic inclusion body (resembling Döhle body). Although rare, giant platelet disorders should be borne in mind, since bleeding tendency in some individuals may be severe and knowledge of bleeding 2013 Jul. May-Hegglin”. The caue of an MHA i a genetic mutation. Clinical features and the pathogenesis of bleeding in this disease are poorly defined. It involves multiple disciplines, including pathology, physiology, internal medicine, pediatrics, and laboratory medicine. Hussein BA, Gomez K, Kadir RA. Am J Hematol. A diagnosis of May-Hegglin anomaly was made. Platelet studies in the pathogenesis of thrombocytopenia in May-Hegglin anomaly. Untanu RV, Vajpayee N. May Hegglin Anomaly. The defect of the white blood cells consists of the presence of very small (2-5 micrometers) rods, known as Dohle bodies, in the fluid portion of the cell (cytoplasm). Peterson LC, Rao KV, Crosson JT, White JG. Int J Lab Hematol. Am J Med. Her peripheral smear showed large platelets and Döhle bodies within many of the polymorphonuclear leukocytes. [Medline]. [Full Text]. • The working diagnosis was May-Hegglin anomaly. [Medline]. A diagnosis of May-Hegglin anomaly was made. The May-Hegglin anomaly i an inherited anomaly of leukocyte, which i one of the MYH9-aociated dieae and i aociated with a point mutation. [Medline]. Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May- Hegglin anomaly): clinical and laboratory findings. 2019 Jan 31. Epstein CJ, Sahud MA, Piel CF, Goodman JR, Bernfield MR, Kushner JH. HematologyOutlines - Hematology is the study of blood, blood-forming (hematopoietic) organs, and neoplastic/non-neoplastic blood disorders. Indian J Hematol Blood Transfus. StatPearls. If you log out, you will be required to enter your username and password the next time you visit. 181(1):226-7. Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. [Medline]. PURPOSE: May-Hegglin anomaly is a rare hereditary condition characterized by the triad of thrombocytopenia, giant platelets, and inclusion bodies in leukocytes. May-Hegglin anomaly. [Medline]. The May-Hegglin anomaly (MHA) is a rare autosomal dominant disease due to MYH9 gene mutation characterized by neutrophils with abnormal cytoplasmic inclusions, large platelets, and variable thrombocytopenia. [Medline]. [Medline]. When checking for a misdiagnosis of May-Hegglin Anomaly or confirming a diagnosis of May-Hegglin Anomaly, it is useful to consider what other medical conditions might be possible misdiagnoses or other alternative conditions relevant to diagnosis. Blood 2006; 108 (1): 10. doi: https://doi.org/10.1182/blood.V108.1.10.10. 1991 Winter. Her peripheral smear also had large platelets and Döhle bodies. 1972 Mar. J Pediatr Hematol Oncol. A 45-year-old African American woman had moderately excessive bleeding within an hour after an abdominal hysterectomy. DiMichele DM, Hathaway WE. American Society of Pediatric Hematology/Oncology. Noris P, Pecci A. Other instances of thrombocytopenia with large platelets, many of which also include Döhle bodies were reported later, such as Sebastian syndrome, Fechtner syndrome, and Epstein syndrome. Medicine (Baltimore). Br J Haematol. For more information or to contribute to the Image Bank, visit www.ashimagebank.org. The bleeding tendency associated with MHA is generally mild and is thought to mainly depend on the degree of thrombocytopenia. Patients are often asymptomatic. [Medline]. [Full Text]. Differential diagnosis: In addition to acute immune thrombocytic purpura, the differential diagnosis for thrombocytopenia associated with large platelets (elevated mean platelet volume) includes Bernard-Soulier syndrome, Montreal platelet syndrome, gray-platelet syndrome, and Alport syndrome. 28 (1):58-60. The May-Hegglin anomaly (MHA) is a rare autosomal dominant disease due to MYH9 gene mutation characterized by neutrophils with abnormal cytoplasmic inclusions, large platelets, and variable thrombocytopenia. [Medline]. A cell blood count is essential in starting a workup in these patients. Recognition of the familial history and the peripheral blood smear eliminates the need for further laboratory testing or a bone marrow examination. [Medline]. Platelets. In this case report, we present a five-year-old girl previously followed as idiopathic thrombocytopenic purpura without bleeding symptoms and a 14-year-old boy who were diagnosed with May-Hegglin anomaly. Blood Coagul Fibrinolysis. 1-8. 1990 Jan. 33(1):39-45. May-Hegglin anomaly (MHA) is an autosomal dominant disorder, characterized by a variable degree of thrombocytopaenia, large platelets and inclusion bodies in white blood cells. [Medline]. May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are autosomal dominant macrothrombocytopenias distinguished by different combinations of clinical and laboratory signs, such as sensorineural hearing loss, cataract, nephritis, and polymorphonuclear Döhle-like bodies. Med Sci Monit. Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia. 52(3):299-310. Hematol Oncol Stem Cell Ther. 2004 Mar. [scinapse.io] 39 There is disordered production of myosin heavy chain type IIA, which affects megakaryocyte maturation and platelet fragmentation when shedding from megakaryocytes The diagnosis of May–Hegglin anomaly has convention-ally been made by identifying characteristic granulocyte inclusion bodies on May–Gru¨nwald–Giemsa- or Wright-stained smears. Her peripheral smear also had large platelets and Döhle bodies. 24 (5):554-61. Kunishima S, Kojima T, Tanaka T, et al. [May-Hegglin anomaly: further studies on thrombocyte dysfunction]. [Medline]. If platelets are abnormally shaped, consider May-Hegglin anomaly, Wiskott-Aldrich syndrome Bizzaro N. May-Hegglin anomaly and uncomplicated vaginal delivery: a report of 41 cases. [Medline]. 13(4):431-6. 2005 Aug. 130(4):620-7. Please confirm that you would like to log out of Medscape. Haematologica. May-Hegglin anomaly and pregnancy: a systematic review. Indian J Hematol Blood Transfus. Fatima S. May hegglin anomaly: rare entity with review of literature. Kunishima S, Yoshinari M, Nishio H, Ida K, Miura T, Matsushita T. Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations. The May-Hegglin anomaly is a rare autosomal dominant disorder characterized by the presence of large, bizarre, cigar-shaped platelets and Döhle bodies in the leukocytes.

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