May Hegglin anomaly

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 genetic disorder of the blood platelets that causes them to be abnormally large. Also, this anomaly causes abnormalities in the white blood cells known as leukocytes. This disorder was first described by Richard May, a German physician, in 1909, and was subsequently described by a Swiss physician, Robert Hegglin, in 1945. The pathogenesis of the disorder had been unknown until recently, when mutations in the gene encoding for nonmuscle 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 leukocytes inclusion, including Sebastian, Fechtner, and Epstein syndromes, which feature deafness, nephritis, and/or cataract [cite journal
quotes = yes
last=Saito
first=Hidehiko
authorlink=
coauthors=Kunishima Shinji
year=2008|month=Apr.

title=Historical hematology: May-Hegglin anomaly
journal=Am. J. Hematol.
volume=83
issue=4
pages=304-6
publisher = | location = | issn =
pmid = 17975807
doi = 10.1002/ajh.21102
bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = ] .

Presentation

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

Treatment

In many cases, May Hegglin's requires no treatment. However, in extreme cases, blood platelet transfusions may be necessary

Causes

An association with MYH9 has been described.cite journal |author=Saito H, Kunishima S |title=Historical hematology: May-Hegglin anomaly |journal=Am. J. Hematol. |volume=83 |issue=4 |pages=304–6 |year=2008 |pmid=17975807 |doi=10.1002/ajh.21102]

Eponym

It is named for Robert Hegglin and Richard May. [WhoNamedIt|synd|113] [R. May. Leukocyteneinschlüsse. Kasuistische Mitteilung. Deutsches Archiv für klinische Medizin, Leipzig, 1909, 96: 1-6.] [R. Hegglin. Über eine neue Form einer konstitutionellen Leukozytenanomalie, kombiniert mit Throbopathie. Schweizerische medizinische Wochenschrift, Basel, 1945, 75: 91-92.]

References


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Look at other dictionaries:

  • May-Hegglin anomaly — Classification and external resources ICD 10 D72.0 …   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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