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May-Hegglin Anomaly Clinical Presentation

  • Author: Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP; Chief Editor: Hassan M Yaish, MD  more...
Updated: May 03, 2016


Individuals with May-Hegglin anomaly (MHA) are often asymptomatic. The bleeding tendency associated with MHA is generally mild and is thought to mainly depend on the degree of thrombocytopenia.[9]

Symptoms of bleeding can include the following:

  • Recurrent epistaxis
  • Gingival bleeding
  • Easy bruising
  • Menorrhagia
  • Excessive bleeding associated with surgical procedures
  • Postpartum hemorrhage 

Physical Examination

Physical findings are often normal. Findings of abnormal bleeding may be subtle. Bruising, which may or may not be associated with a history of clinically significant trauma, may be noted.

Petechiae may be present on the skin and are most common in pressure-point areas (eg, on the neck, overlying the clavicles, on the waist, or in areas where clothes are tight). Petechiae are associated with restricting conditions, such as the application of a tourniquet for venipuncture. Petechiae may also be observed on the oral and nasal mucosal surfaces.

Active bleeding from the mucosal surfaces may be observed. The most common sites of bleeding include the mouth and nose. Prolonged and excessive bleeding and oozing associated with lacerations and sutures may also be observed.

Looking for the associated clinical features of MYH9 -related disorders is important in enabling an accurate diagnosis. In patients initially thought to have MHA or Sebastian syndrome, the following findings were noted[15] :



Despite mild bleeding symptoms, pregnancy in women with MHA can pose risk. A literature review by Hussein et al revealed that in 40 patients with MHA with 75 pregnancies, postpartum hemorrhage (PPH) occurred in four pregnancies, with three cases of primary and one of secondary PPH. There were two intrauterine fetal deaths, but no documented morbidity in the 34 newborns who were found to have thrombocytopenia after delivery.[21]

Contributor Information and Disclosures

Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP Professor of Pediatrics, Albany Medical College; Chief, Division of Pediatric Hematology-Oncology, John and Anna Landis Endowed Chair for Pediatric Hematology-Oncology, Medical Director, Melodies Center for Childhood Cancer and Blood Disorders, Albany Medical Center

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 Oncology

Disclosure: Nothing to disclose.

Chief Editor

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

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 Society

Disclosure: Nothing to disclose.


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

Disclosure: Nothing to disclose.

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

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

  1. Fatima S. May hegglin anomaly: rare entity with review of literature. Indian J Hematol Blood Transfus. 2012 Mar. 28 (1):58-60. [Medline]. [Full Text].

  2. Saito H, Kunishima S. Historical hematology: May-Hegglin anomaly. Am J Hematol. 2008 Apr. 83(4):304-6. [Medline].

  3. Seri M, Cusano R, Gangarossa S, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet. 2000 Sep. 26(1):103-5. [Medline].

  4. Greinacher A, Nieuwenhuis HK, White JG. Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. Blut. 1990 Nov. 61(5):282-8. [Medline].

  5. Epstein CJ, Sahud MA, Piel CF, Goodman JR, Bernfield MR, Kushner JH. Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med. 1972 Mar. 52(3):299-310. [Medline].

  6. Peterson LC, Rao KV, Crosson JT, White JG. Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. Blood. 1985 Feb. 65(2):397-406. [Medline].

  7. Kunishima S, Kojima T, Tanaka T, et al. Mapping of a gene for May-Hegglin anomaly to chromosome 22q. Hum Genet. 1999 Nov. 105(5):379-83. [Medline].

  8. Chen Z, Shivdasani RA. Regulation of platelet biogenesis: insights from the May-Hegglin anomaly and other MYH9-related disorders. J Thromb Haemost. 2009 Jul. 7 Suppl 1:272-6. [Medline].

  9. Burns ER. Platelet studies in the pathogenesis of thrombocytopenia in May-Hegglin anomaly. Am J Pediatr Hematol Oncol. 1991 Winter. 13(4):431-6. [Medline].

  10. Mayer K, Schildknecht O, von Felten A. [May-Hegglin anomaly: further studies on thrombocyte dysfunction]. Schweiz Med Wochenschr. 1997 Jun 28. 127(26):1134-40. [Medline].

  11. Noris P, Spedini P, Belletti S, et al. Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May- Hegglin anomaly): clinical and laboratory findings. Am J Med. 1998 Apr. 104(4):355-60. [Medline].

  12. Pujol-Moix N, Kelley MJ, Hernandez A, Muniz-Diaz E, Espanol I. Ultrastructural analysis of granulocyte inclusions in genetically confirmed MYH9-related disorders. Haematologica. 2004 Mar. 89(3):330-7. [Medline].

  13. 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. Am J Hum Genet. 2001 Nov. 69(5):1033-45. [Medline].

  14. 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. Pediatr Blood Cancer. 2006 Dec. 47(7):968-9. [Medline].

  15. Seri M, Pecci A, Di Bari F, et al. 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. Medicine (Baltimore). 2003 May. 82(3):203-15. [Medline].

  16. Dong F, Li S, Pujol-Moix N, et al. Genotype-phenotype correlation in MYH9-related thrombocytopenia. Br J Haematol. 2005 Aug. 130(4):620-7. [Medline].

  17. Kunishima S, Yoshinari M, Nishio H, Ida K, Miura T, Matsushita T. Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations. Eur J Haematol. 2007 Mar. 78(3):220-6. [Medline].

  18. Ishii A, Honnma T, Ishida M, Sano F, Hamada H, Takayanagi M. Pregnancy complicated by the May-Hegglin anomaly. J Perinat Med. 1993. 21(3):247-52. [Medline].

  19. Sehbai AS, Abraham J, Brown VK. Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy. Am J Hematol. 2005 Aug. 79(4):303-8. [Medline].

  20. Antonio G, Silvia V, Emanuela B, Fabrizio F. Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes). J Thromb Thrombolysis. 2011 Nov. 32(4):474-7. [Medline].

  21. Hussein BA, Gomez K, Kadir RA. May-Hegglin anomaly and pregnancy: a systematic review. Blood Coagul Fibrinolysis. 2013 Jul. 24 (5):554-61. [Medline].

  22. Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest. 2003 Jan. 83(1):115-22. [Medline].

  23. Bizzaro N. May-Hegglin anomaly and uncomplicated vaginal delivery: a report of 41 cases. Am J Obstet Gynecol. 1999 Jul. 181(1):226-7. [Medline].

  24. Chabane H, Gallais Y, Pathier D, Tchernia G, Gaussem P. Delivery management in a woman with thrombocytopenia of the May-Hegglin anomaly type. Eur J Obstet Gynecol Reprod Biol. 2001 Nov. 99(1):124-5. [Medline].

  25. DiMichele DM, Hathaway WE. Use of DDAVP in inherited and acquired platelet dysfunction. Am J Hematol. 1990 Jan. 33(1):39-45. [Medline].

Blood smear (original magnification ×2000) in patient with May-Hegglin anomaly (MHA) demonstrates characteristic giant platelet with poorly defined granulation. Normal-sized platelet is also present. Trilobed neutrophil contains large, well-defined, basophilic, peripherally placed cytoplasmic inclusion body (resembling Döhle body). Image used with permission from Little, Brown.
Table. Clinical Features of MYH9 -Related Thrombocytopenias
Condition Macrothrombocytopenia Granulocyte inclusions Nephritis and Deafness Cataracts
MHA Yes Linear Döhlelike No No
Epstein syndrome Yes Absent or faint Yes No
Fechtner syndrome Yes Spherical granules Yes Yes
Sebastian syndrome Yes Spherical granules No No
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