May-Hegglin Anomaly

Wassmuth, Dale R.; Hamilton, Henry E.; Sheets, Raymond F.

doi:10.1001/jama.1963.03700090057009

Cited by 14 publications

(3 citation statements)

References 5 publications

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“…The autosomal dominant transmission of MHA, although suggested by Hegglin (1945), was first clearly established by Wassmuth et al (1963), in their analysis of a five-generation Danish family with 13 affected members. The results of karyotypic analyses have not revealed any translocations or other abnormalities that indicate an MHA locus (Buchanan et al 1964;Lusher et al 1968;Gausis et al 1969).…”

Section: Figurementioning

confidence: 99%

The Gene for May-Hegglin Anomaly Localizes to a <1-Mb Region on Chromosome 22q12.3-13.1

Martignetti

Heath

Harris

et al. 2000

The American Journal of Human Genetics

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The May-Hegglin anomaly (MHA) is an autosomal dominant platelet disorder of unknown etiology. It is characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies, and affected heterozygotes are predisposed to bleeding episodes. The MHA gene has recently been localized, by means of linkage analysis, to a 13.6-cM region on chromosome 22, and the complete chromosome 22 sequence has been reported. We recently performed a genome scan for the MHA gene in 29 members of a large, multigenerational Italian family, and we now confirm that the MHA locus is on chromosome 22q12. 3-13.1. The maximal two-point LOD score of 4.50 was achieved with the use of marker D22S283, at a recombination fraction of.05. Haplotype analysis narrowed the MHA critical region to 6.6 cM between markers D22S683 and D22S1177. It is of note that the chromosome 22 sequence allowed all markers to be ordered correctly, identified all the candidate genes and predicted genes, and specifically determined the physical size of the MHA region to be 0. 7 Mb. These results significantly narrow the region in which the MHA gene is located, and they represent the first use of chromosome 22 data to positionally clone a disease gene.

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Section: Figurementioning

confidence: 99%

The Gene for May-Hegglin Anomaly Localizes to a <1-Mb Region on Chromosome 22q12.3-13.1

Martignetti

Heath

Harris

et al. 2000

The American Journal of Human Genetics

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“…May first described the Döhle bodies in 1909 [185]; in 1945 Hegglin described their association with thrombopenia and giant platelets [114]. Although purpura or other minor bleeding episodes have been occasionally noted in association with the anomaly [208,218,299], the majority of reported cases have been asymptomatic [63,171,199,208,218,258,272,299]. This interesting anomaly is transmitted as an autosomal dominant disorder.…”

Section: May-hegglin Anomalymentioning

confidence: 99%

Congenital Disorders Affecting Platelets

Lusher¹,

Barnhart²

2008

Semin Thromb Hemost

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“…Auch der Vererbungsmodus in unserer Familie steht mit der bis herigen Annahme [9,20,28,33,35,42] in Einklang, dass die Krank heit autosomal dominant vererbt wird. Die Chromosomenkultur aus dem peripheren Blut ergab einen normalen Befund.…”

Section: Diskussionunclassified