FaCD Online Syndrome Fact Sheet

Last updated: 24 Oct 2008

Name: Hereditary Macrothrombocytopenia, MYH9-associated

Synonym: MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA

Mode of Inheritance: AD

Genes

MYH9, mapped to 22q11.2

Tumor features (possible)

leukemia, acute myeloid (AML, incl. ANLL)
myelodysplastic syndrome (MDS)

Non-tumor features

thrombocytopenia

Comment

Inherited macrothrombocytopenias are a clinically and genetically heterogeneous group of disorders. This database file refers to MYH9-associated macrothrombocytopenia.

A child with Fechtner syndrome and AML[1] and a 79-year-old individual with May-Hegglin anomaly and myelodysplasia/AML[2] have been reported.

References

[1] Rheingold SR. Acute myeloid leukemia in a child with hereditary thrombocytopenia. Pediatric blood & cancer 2007; 48(1):105-7.
[2] Fujishima N, Hirokawa M, Ishikawa H, Fujishima M, Kume M, Miura I, Sawada K. May-Hegglin anomaly developing myelodysplasia and acute myeloid leukemia. International journal of hematology 2004; 79(5):505-6.