May-Hegglin anomaly

May-Hegglin anomaly
May-Hegglin anomaly
Classification and external resources
ICD-10 D72.0
ICD-9 288.2
OMIM 155100
DiseasesDB 29517
eMedicine ped/1383

May-Hegglin anomaly (MHA), also known as Dohle leukocyte inclusions with giant platelets and macrothrombocytopenia with leukocyte inclusions,[1] is a rare genetic disorder of the blood platelets that causes them to be abnormally large. The anomaly also causes abnormalities in the white blood cells known as leukocytes.



MHA is named for German physician Richard May(January 7,1863 - 1936) and Swiss physician Robert Hegglin.[2][3][4] The disorder was first described by Richard May in 1909, and was subsequently described by Robert Hegglin in 1945.


MHA is believed to be associated with the MYH9 gene.[5] The pathogenesis of the disorder had been unknown until recently, when autosomal dominant mutations in the gene encoding non-muscle myosin heavy chain IIA (MYH9) were identified. Unique cytoplasmic inclusion bodies are aggregates of nonmuscle myosin heavy chain IIA, and are only present in granulocytes. It is not yet known why inclusion bodies are not present in platelets, monocytes, and lymphocytes, or how giant platelets are formed. Interestingly, MYH9 is also found to be responsible for several related disorders with macrothrombocytopenia and leukocyte inclusions, including Sebastian, Fechtner, and Epstein syndromes, which feature deafness, nephritis, and/or cataract.[5] MHA is also a feature of the Alport syndrome (hereditary nephritis with sensorineural hearing loss).


In the leukocytes, the presence of very small rods (around 3 micrometers), or Dohle bodies can be seen in the cytoplasm.


In many cases, MHA requires no treatment. However, in extreme cases, blood platelet transfusions may be necessary


  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 155100
  2. ^ synd/113 at Who Named It?
  3. ^ R. May. Leukocyteneinschlüsse. Kasuistische Mitteilung. Deutsches Archiv für klinische Medizin, Leipzig, 1909, 96: 1-6.
  4. ^ R. Hegglin. Über eine neue Form einer konstitutionellen Leukozytenanomalie, kombiniert mit Throbopathie. Schweizerische medizinische Wochenschrift, Basel, 1945, 75: 91-92.
  5. ^ a b Saito, H.; Kunishima, S. (Apr 2008). "Historical hematology: May-Hegglin anomaly". American Journal of Hematology 83 (4): 304–306. doi:10.1002/ajh.21102. ISSN 0361-8609. PMID 17975807.  edit

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Look at other dictionaries:

  • May Hegglin anomaly — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 29517 ICD10 = ICD10|D|72|0|d|70 ICD9 = ICD9|288.2 ICDO = OMIM = 155100 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 1383 MeshID = May Hegglin s anomaly, as it is also known, is a rare… …   Wikipedia

  • May-Hegglin anomaly — May Hegg·lin anomaly (miґ hegґlin) [Richard May, German physician, 1863–1936; Robert Marquard Hegglin, Swiss physician, 1907–1969] see under anomaly …   Medical dictionary

  • May-Hegglin anomaly — an autosomal dominant disorder of blood cell morphology, caused by mutations in the MYH9 gene (locus: 22q11.2), which encodes a component of nonmuscle myosin. It is characterized by blue, RNA containing cytoplasmic inclusions similar to Dцhle… …   Medical dictionary

  • May-Hegglin-Anomalie — Klassifikation nach ICD 10 D72.0[1] Genetisch bedingte Leukozytenanomalien …   Deutsch Wikipedia

  • Anomaly — A deviation from the usual, something different, peculiar, or abnormal. A congenital anomaly is something that is unusual and different at birth. A minor anomaly in this context is defined as an unusual anatomic feature that is of no serious… …   Medical dictionary

  • Hegglin — Robert M.P., Swiss physician, 1907–1970. See H. anomaly, H. syndrome, May H. anomaly …   Medical dictionary

  • May — Richard, German physician. See M. Hegglin anomaly …   Medical dictionary

  • Robert Hegglin — Infobox Scientist name = PAGENAME box width = image width =150px caption = PAGENAME birth date = 1907 birth place = death date = 1969 death place = residence = citizenship = nationality = Switzerland ethnicity = field = medicine work institutions …   Wikipedia

  • Macrotrombocitopenias hereditarias — Las macrotrombocitopenias hereditarias son un grupo heterogéneo de enfermedades que asocian trombocitopenia y plaquetas gigantes. Pueden incluir todos o algunos de los siguientes rasgos clínicos: nefritis hereditaria, sordera neurosensorial,… …   Wikipedia Español

  • MYH9 — Idiogramm des menschlichen Chromosom 22. MYH9 befindet sich auf Band q11.2 MYH9 (Myosin, heavy chain 9) ist ein Gen, welches sich beim Menschen auf Chromosom 22 Genlocus q11.2 befindet.[1][2][3] …   Deutsch Wikipedia

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