May hegglin anomaly mha is a rare autosomal dominant disorder. Mayhegglin anomaly is a rare hereditary condition characterized by the triad of thrombocytopenia, giant platelets, and inclusion bodies in leukocytes. Wassmuth and associates did not state what the platelet counts were in the patients they reported, so it is impossible to determine if thrombocytopenia was or was not associated with the mayhegglin anomaly in this family. Axenfelds anomaly a developmental anomaly characterized by a circular opacity of the posterior peripheral cornea, and caused by an irregularly thickened, axially displaced schwalbes ring. Myh9 related thrombocytopenia genetic and rare diseases. May hegglin anomaly mha is a rare familial bleeding disorder characterized by a triad of thrombocytopenia, giant platelets, and dohlelike inclusion bodies within the. May hegglin anomaly mha is a rare autosomal dominant disorder characterized by variable thrombocytopenia and well defined basophilic cytoplasmic inclusion bodies resembling dohle bodies in the granulocytes. Hegglin s family, and in ours, the propositi presented with purpura. The trip database provides clinical publications about. Abstract mayhegglin anomaly is a rare autosomal dominant platelet disorder characterized by thrombocytopenia, giant platelets, and unique. We diagnosed a primipara woman with an myh9 disorder during her pregnancy. May hegglin anomaly is an autosomal dominant disorder characterized by. The mayhegglin anomaly mha is a rare autosomal dominant disease due to myh9 gene.
Mayhegglin anomaly blood american society of hematology. The myh9 gene encodes the nonmuscle myosin heavy chain iia nmmhciia, a cytoskeletal contractile protein. Other than hypothyroidism that was controlled with levothyroxine, she was otherwise healthy with no evidence of bleeding. Ideal sources for wikipedias health content are defined in the guideline wikipedia. Platelet counts were markedly reduced and were correctly determined only in the counting chamber. Hematologic study revealed the existence of an anomaly in the leukocytes and platelets of subjects in three generations within a single large family.
Alder reilly syndrome may hegglin anomaly ehrlichia equi infection chediak higashi syndrome question 9 1. Free fulltext pdf articles from hundreds of disciplines, all in one place epidural anesthesia for labor and delivery in a patient with may hegglin anomaly. We also put forth a few pictures characterizing it. Symptoms of the following disorders can be similar to those of bernardsoulier syndrome. The may hegglin anomaly has been established as an inherited clinical entity on the basis of 28 patients reported by eight authors. May hegglin anomaly mha, is a rare genetic disorder of the blood platelets that causes them to be abnormally large. A peripheral blood smear with an immunofluorescence analysis is the established method of diagnosing myh9 disorders. In this figure, a neutrophil contains multiple prominent, light blue, round dohle bodies, which are intracytoplasmic inclusions that consist. Platelet function, ultrastructure and chromosome studies by jeanne m. Mayhegglin anomaly mha is a rare autosomal dominant disorder characterized by various degrees of thrombocytopenia that may be associated with purpura and bleeding. Myh9related thrombocytopenia myh9rd is a genetic condition caused by mutations in the myh9 gene and is characterized by large platelets and thrombocytopenia low number of platelets which increases the risk for mild to serious bleeding in the body or in the skin.
Her peripheral smear showed large platelets and dohle bodies within many of the polymorphonuclear leukocytes. Kalman filanovsky, lev shvidel, eljakim vorst, alain berrebi and. All structured data from the file and property namespaces is available under the creative commons cc0 license. Mayhegglin anomaly mha is a rare genetic disorder characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies. Myh9related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney renal disease, and clouding of the lens of the eyes cataracts. May hegglin anomaly is a rare, inherited, blood platelet disorder characterized by abnormally large and misshapen platelets giant platelets and defects of the white blood cells known as leukocytes. About half of the reported patient are asymptomatic but the other half have platelet counts may hegglin anomaly, epstein syndrome, fechtner syndrome, and sebastian syndrome. Anesthetic management of seven deliveries in three sisters. May hegglin anomaly is a rare hereditary condition characterized by the triad of thrombocytopenia, giant platelets, and inclusion bodies in leukocytes.
The mutation results in disordered production of nonmuscle myosin heavy chain type iia. Myh9related disorders display heterogeneous kidney. A 35yearold woman with known may hegglin anomaly and a positive family history was seen in a fertility clinic. Myosin heavy chain 9related disorders myh9rd are a genetic condition characterised by large platelets and thrombocytopaenia. May hegglin anomaly mha, also known as dohle leukocyte inclusions with giant platelets and macrothrombocytopenia with leukocyte inclusions, is a rare genetic disorder of the blood platelets that causes them to be abnormally large. Mayhegglin anomaly along with sebastian syndrome, fechtner syndrome, and epstein syndrome are autosomal dominant genetic disorders involving mutations in the myh9 gene encoding for the nonmuscle myosin heavy chain iia nmmhciia. Mayhegglin anomaly mha is an inherited disorder of blood cells that was identified in a pug.
History of myh9related disorders in 1909, may described a family in which several members had enlarged platelets but minor if any bleeding symptoms. Mayhegglin and other platelet dysfunctions as complications to. Mayhegglin anomaly is one of a spectrum of myh9 disorders that. May hegglin anomaly is a rare genetic hematological disorder characterized by thrombocytopenia, but platelet function is usually normal. Perinatal management for a pregnant woman with an myh9. The granulocytes were characterized by a cytoplasmic collection of. Cord blood may be used for initial factor determination if there is a family history avoid fetal scalp blood sampling and electrodes, prolonged labor, delivery with forceps or vacuum. Mayhegglin anomaly associated with glossitis, pharyngitis. Bleeding time and platelet aggregation were always normal, but platelet nucleotide concentrations atp and adp were elevated. Macrothrombocytopenia with or without granulocyte inclusions, nephritis, or sensorineural hearing loss was previously thought to comprise 4 distinct entities with overlapping features.
We provided genetic counseling, as required, which included apprising the woman of the inheritance pattern, the importance of a genetic analysis, and the potential delivery risks for the patient and her. May hegglin anomaly associated with glossitis, pharyngitis and muscular hypotonia. May hegglin anomaly mha was suspected based on the morphologic appearance of platelets and neutrophils. The bleeding problems in people with myh9related disorder are due to thrombocytopenia. Full text full text is available as a scanned copy of the original print version. Mayhegglin anomaly is a rare, inherited, blood platelet disorder characterized by abnormally large and misshapen platelets giant platelets and defects of the white blood cells known as leukocytes. There are very limited data on the clinical course and neonatalpaediatric outcome in. Macrothrombocytopenia with dohle bodylike granulocyte. Until now only 36 families with this syndrome have been documented in the literature 8. Files are available under licenses specified on their description page. Comparisons may be useful for a differential diagnosis. The anomaly also causes abnormalities in the white blood cells known as leukocytes.
The mayhegglin anomaly mha is a rare autosomal dominant disease due to myh9 gene mutation characterized by neutrophils with. Mayhegglin anomaly mha is a rare hereditary condition that is characterized by cytoplasmic inclusions in leukocytes and giant platelets. Patients have a mutation of myh9 gene present in chromosome 22q12. May hegglin and other platelet dysfunctions as complications to compartment syndrome. Bernardsoulier syndrome nord national organization for. This condition is diagnosed via microscopic examination of a blood smear and is characterized by three key features. Carriers may be in the moderate or severe range due to extreme lyonization. The defect of the white blood cells consists of the presence of very small 25 micrometers rods, known as dohle bodies, in the fluid portion of the cell cytoplasm. The may hegglin anomaly mha, an uncommon condition with a potential risk of bleeding complications once thought to be separate, is now known to be part of myh9rd.
Get a printable copy pdf file of the complete article. May hegglin anomaly is a rare inherited disorder of blood platelets and certain white blood cells characterized by abnormally large platelets. It is characterized by mild hemorrhagic manifestations accompanied by the finding of giant platelets and inclusions. Fechtner syndrome, mayhegglin anomaly, epstein syndrome, and sebastian syndrome. Leukocytic inclusionsdohle bodiesassociated with platelet abnormality the may hegglin anomaly. Mayhegglin anomaly definition of mayhegglin anomaly by. All of these entities are associated with macrothrombocytopenias, leukocyte inclusions dohlelike bodies, and. Three sisters with may hegglin anomaly and thrombocytopenia platelet counts 14,000100,000mm 3 were given neuraxial anesthesia for a total of 7 deliveries, 5 vaginal and 2 cesarean. Several mutations in the myh9 gene lead to premature release of platelets from the bone marrow, macro thrombocytopenia, and cytoplasmic inclusion bodies within leukocytes. Open access publication mayhegglin and other platelet. May hegglin anomaly or syndrome references in the icd10cm index to diseases and injuries. The inclusions are caused by accumulation of free ribosomes. Fechtner syndrome an overview sciencedirect topics.
References in the icd10cm index to diseases and injuries applicable to the clinical term may hegglin anomaly or syndrome may hegglin anomaly or syndrome d72. May hegglin anomaly an overview sciencedirect topics. The may hegglin anomaly in a kidney transplant recipient. Coronary thrombosis in a patient with mayhegglin anomaly. At delivery, the platelet count of 200 was a manual. Mayhegglin anomaly and the devastating consequences of acute. A family with four and an unrelated family with three individuals affected by the may hegglin anomaly are described.
All of these disorders involved thrombocytopenia and enlarged platelets and were distinguished by some combination of hearing loss, renal disease, and cataracts. Thrombocytopenia giant platelets leucocytes may hegglin anomaly hereditary thrombocytopenia introduction the may hegglin anomaly is a rare cause of hereditary thrombocytopenia. The platelets were poorly granulated and large up to 15. May hegglin anomaly was first described by may in 1909 and in 1945 by hegglin. May hegglin anomaly nord national organization for rare. Epidural anesthesia for labor and delivery in a patient. May hegglin anomaly is caused by a mutation in the myh9 gene on chromosome 22q12.
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