All of these entities are associated with macrothrombocytopenias, leukocyte inclusions dohlelike bodies, and. Pdf mutations in myh9 result in the mayhegglin anomaly. Delivery management in a woman with thrombocytopenia of the mayhegglin anomaly type. May hegglin anomaly mha, the most common form of inherited giant platelet disorders, was first described by may in 1909 and later by hegglin 190 in 1945. Definition of may hegglin anomaly in the financial dictionary by free online english dictionary and encyclopedia. Mayhegglin anomaly, epstein syndrome, fechtner syndrome, and sebastian syndrome. Mayhegglin anomaly mha, the most common form of inherited giant platelet disorders, was first described by may in 1909 178 and later by hegglin 179 in 1945. Bleeding time and platelet aggregation were always normal, but platelet nucleotide concentrations atp and adp were elevated. 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. In a family with the may hegglin anomaly, electron microscopic studies demonstrated the development of the may hegglin inclusion within immature bone marrow granulocytes. May hegglin anomaly an overview sciencedirect topics. A 35yearold woman with known mayhegglin anomaly and a positive family history was seen in a fertility clinic. May hegglin anomaly mha, is a rare genetic disorder of the blood platelets that causes them to be abnormally large.
This condition is diagnosed via microscopic examination of a blood smear and is characterized by three key features. A45yearold african american woman had moderately excessive bleeding within an hour. Mha is named for german physician richard may january 7, 1863 1936 and swiss physician robert hegglin. We also put forth a few pictures characterizing it. Symptoms may include red or purple colored spots on the skin purpura, nose bleeds epitaxis, excessive bleeding from the mouth during dental work, headaches, andor muscle weakness on one side of the body due to bleeding within the brain intracranial bleeding.
This rare autosomal dominant platelet disorder is characterized by giant platelets, thrombocytopenia, leukocyte inclusions, and mild bleeding tendency. May hegglin anomaly mha is a rare autosomal dominant platelet disorder characterized by the triad of giant platelets, thrombocytopenia and leukocyte inclusions. Hematologic study revealed the existence of an anomaly in the leukocytes and platelets of subjects in three generations within a single large family. Clinically the mayhegglin anomaly is associated with a.
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 may hegglin anomaly in this family. This rare autosomal dominant platelet disorder is characterized by giant platelets, thrombocytopenia, leukocyte inclusions, and a mild bleeding tendency see chapter 47. May hegglin anomaly and uncomplicated vaginal delivery. It is suggested that in future the termdohle body should be restricted to the basophilic inclusions seen in neutrophils in a variety of infectious states. Tranexamic acid desmopressin acetate platelet transfusion will not work, because the affected platelets will overtake the new platelets. Count at least 200300 nucleated cells between 4060 cells can be counted in one field. Mayhegglin anomaly financial definition of mayhegglin anomaly. The granulocytes were characterized by a cytoplasmic collection of. Hegglin s family, and in ours, the propositi presented with purpura. May hegglin anomaly mha is an inherited disorder of blood cells that was identified in a pug. Mayhegglin anomaly is an inherited dominant condition in which large 2 5 um basophilic inclusions, resembling dohle bodies, are present in granulocytes, including neutrophils, eosinophils, basophils, and monocytes.
Most individuals with the mayhegglin anomaly are asymptomatic and, paradoxically, despite having low platelet counts are not at increased risk of haemorrhage. Bleeding manifestations are generally mild, but severe bleeding episodes have been reported. Platelet function, ultrastructure and chromosome studies by jeanne m. May hegglin anomaly mha is a rare autosomal dominant disorder characterized by variable thrombocytopenia and well defined basophilic. The inclusions are caused by accumulation of free ribosomes.
The mayhegglin anomaly has been established as an inherited clinical entity on the basis of 28 patients reported by eight authors. About half of the reported patient are asymptomatic but the other half have platelet counts may hegglin anomaly may have symptoms at birth while others may have no symptoms throughout their lifetime. Mayhegglin anomaly, sebastian syndrome, fechtner syndrome, and epstein syndrome are not distinct entities but represent a variable expression of a single illness. In a family with the mayhegglin anomaly, electron microscopic studies demonstrated the development of the mayhegglin inclusion within immature bone marrow granulocytes. Abstract mayhegglin anomaly is a rare autosomal dominant platelet disorder characterized by thrombocytopenia, giant platelets, and unique. Individuals from mayhegglin anomaly family 21 had both urinary parameters altered even though proteinuria was at low level 0. Seri m, pecci a, di bari f et al 2003 myh9related disease. Mutations in myh9 result in the mayhegglin anomaly, and fechtner and sebastian syndromes. Previously these two inclusions have been considered essentially similar, and the inclusions of the may. Dec 22, 2003 the mayhegglin anomaly is a rare autosomal dominant disorder characterised by thrombocytopaenia, giant platelets and dohle body inclusions in leucocytes 2. Mayhegglin anomaly, a familial thrombocytopenia in.
Abstract mayhegglin anomaly, sebastian syndrome, fechtner syndrome, and epstein syndrome are autosomal dominant macrothrombocytopenias distinguished by different combinations of clinical and laboratory signs, such as sensorineural hearing loss, cataract, nephritis, and polymorphonuclear dohlelike bodies. A family with four and an unrelated family with three individuals affected by the may hegglin anomaly are described. Delivery management in a woman with thrombocytopenia of the may hegglin anomaly type. Until now only 36 families with this syndrome have been documented in the literature 8. All of these disorders involved thrombocytopenia and enlarged platelets and were distinguished by some combination of hearing loss, renal disease, and cataracts. Some people with mayhegglin anomaly may have symptoms at birth while others may have no symptoms throughout their lifetime.
The gene for mayhegglin anomaly localizes to a may hegglin anomaly mha is an autosomal dominant platelet disorder of unknown etiology. Examination of cells by transmission electron microscopy revealed normal platelet ultrastructure. The ultrastructural similarity of the inclusions to paracrystalline arrays of depolymerized ribosomes is discussed. Other than hypothyroidism that was controlled with levothyroxine, she was otherwise healthy with no evidence of bleeding. Myh9related disorder was previously thought to be four separate disorders. Chabane h, gallais y, pathier d, tchernia g, gaussem p. Mayhegglin anomaly mha is a rare autosomal dominant platelet disorder characterized by the triad of giant platelets, thrombocytopenia and leukocyte inclusions. Bone marrow smear the differential practical advices always do your differential with 1,000x magnification. History of myh9related disorders in 1909, may described a family in which several members had enlarged platelets but minor if any bleeding symptoms. May hegglin anomaly mha is an autosomal dominant disorder, characterized by a variable degree of thrombocytopaenia, large platelets and inclusion bodies in white blood cells. May hegglin anomaly nord national organization for rare.
Thrombocytopenia giant platelets leucocytes may hegglin anomaly hereditary thrombocytopenia introduction the may hegglin anomaly is a rare cause of hereditary thrombocytopenia. May hegglin anomaly 1,2 mha is an autosomal dominant macrothrombocytopenia of unclear pathogenesis characterized by thrombocytopenia, giant platelets and leukocyte inclusions. If one multiplies the platelet number by mpv to obtain the platelet mass in circulating blood, there is little difference between the values obtained in mha and normal. About half of the reported patient are asymptomatic but the other half have platelet counts mayhegglin anomaly mha has an autosomal dominant pattern of inheritance. Symptoms may include red or purple colored spots on the skin purpura, nose bleeds epitaxis, excessive bleeding from the mouth during dental work, headaches, andor muscle weakness on one side of the body due to bleeding within the brain. Thrombocytopenia giant platelets leucocytes mayhegglin anomaly hereditary thrombocytopenia introduction the mayhegglin anomaly is a rare cause of hereditary thrombocytopenia. Mayhegglin anomaly in a dog flatland 2011 veterinary.
About half of the reported patient are asymptomatic but the other half have platelet counts may hegglin anomaly mha is a rare autosomal dominant platelet disorder characterized by the triad of giant platelets, thrombocytopenia and leukocyte inclusions. Pdf mayhegglin anomaly mha is an autosomal dominant disorder, characterized by a variable degree of thrombocytopaenia, large. May hegglin anomaly was first described by may in 1909 and in 1945 by hegglin. In the leukocytes, the presence of very small rods around 3 micrometers, or dohle. Mayhegglin anomaly and uncomplicated vaginal delivery.
The mayhegglin anomaly is an autosonial dominant disorder. Mayhegglin anomaly, laboratory continuing education. The syndrome was first described by may 1909 in an asymptomatic woman with giant platelets and paleblue cytoplasmic inclusion bodies in the granulocytes. The platelets were poorly granulated and large up to 15. The gene for mayhegglin anomaly localizes to a may hegglin anomaly may have symptoms at birth while others may have no symptoms throughout their lifetime. Mayhegglin anomaly mha is an autosomal dominant disorder, characterized by a variable degree of thrombocytopaenia, large platelets and inclusion bodies in white blood cells. The may hegglin anomaly is an autosonial dominant disorder. Mayhegglin anomaly blood american society of hematology. Mayhegglin anomaly mha is an inherited disorder of blood cells that was identified in a pug. It is characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies, and affected heterozygotes are predisposed to bleeding episodes. Platelet counts were markedly reduced and were correctly determined only in the counting chamber. Either low proteinuria or microscopic hematuria was instead revealed in 4 md, rg, sl, and bf and 2 ck and bad mayhegglin anomaly or sebastian syndrome patients, respectively. It is characterized by mild hemorrhagic manifestations accompanied by the finding of giant platelets and inclusions dohle bodies in the cytoplasm of leukocytes.
Mayhegglin anomaly mha was suspected based on the morphologic appearance of platelets and neutrophils. Jan 12, 2012 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. May hegglin anomaly, epstein syndrome, fechtner syndrome, and sebastian syndrome. The ultrastructural similarity of the inclusions to paracrystalline arrays of depolymerized ribosomes is. Jul 01, 2006 mayhegglin is an autosomal dominant disorder that was originally described by may 1909 and later by hegglin 1945. Mutation of myh9, encoding nonmuscle myosin heavy chain a. Mayhegglin anomaly is a hereditary thrombocytopenia associated with giant platelets and large basophilic, cytoplasmic inclusion bodies resembling dohle. Mayhegglins anomaly can be treated by various methods.
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