Familial Macrothrombocytopenia with Unusually Elongated Mitochondria

We report a familial case of macrothrombocytopenia without inclusion bodies in polymorphonuclear cells or any congenital abnormalities. The results of the hemostatic and platelet function tests were all normal except for the platelet retention rate. The number of megakaryocytes increased slightly an...

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Published inInternal Medicine Vol. 34; no. 11; pp. 1140 - 1143
Main Authors YAMADA, Katsunori, MIWA, Kazuma, WAKITA, Yoshitsugu, IKOMA, Yoshio, FUKUI, Yohichi, OKUYAMA, Makio, KATO, Kazuo, ICHIHASHI, Takuji, KUNISHIMA, Shinji, SHAMOTO, Mikihiro
Format Journal Article
LanguageEnglish
Published Tokyo The Japanese Society of Internal Medicine 1995
Japanese Society of Internal Medicine
Subjects
Adult
Biological and medical sciences
Blood Platelets - ultrastructure
familial thrombocytopenia
Female
giant platelet
Hematologic and hematopoietic diseases
Humans
Medical sciences
Microscopy, Electron
Mitochondria - ultrastructure
Platelet diseases and coagulopathies
Thrombocytopenia - pathology
ultrastructure
Human
Thrombocytopenia
Pathology
Mitochondria
Platelet
Family study
Exploration
Hemopathy
Electron microscopy
Genetic disease
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Summary:We report a familial case of macrothrombocytopenia without inclusion bodies in polymorphonuclear cells or any congenital abnormalities. The results of the hemostatic and platelet function tests were all normal except for the platelet retention rate. The number of megakaryocytes increased slightly and some were relatively small. Electron microscopic studies revealed a unique morphological abnormality of the platelets' mitochondria. (Internal Medicine 34: 1140-1143, 1995)
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
ObjectType-Article-3
ISSN:0918-2918
1349-7235
DOI:10.2169/internalmedicine.34.1140