title: Glanzmann's thrombasthenia in 11 cases of one family.
abstract: We report here the largest family in Bulgaria with Glanzmann's thrombasthenia which is inherited in an autosomal recessive manner. Eleven children in four successive generations were followed up. Clinically, the disease manifested in mucocutaneous haemorrhages. Five of the children died due to severe haemorrhagic episodes. The diagnosis was confirmed by haemostasic investigation; in some of the children the thrombocytes were examined by electron microscopy. Necessity of prenatal diagnosis is suggested.
authors.affiliation: Department of Paediatrics, University of Medicine, Plovdiv, Bulgaria.
authors.forename: L
authors.initials: L
authors.lastname: Chakova
authors.forename: A
authors.initials: A
authors.lastname: Stoyanova
authors.forename: E
authors.initials: E
authors.lastname: Genev
mesh_terms: D000293:Adolescent; D001792:Blood Platelets / Q000473:pathology / Q000648:ultrastructure; D002648:Child; D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D005500:Follow-Up Studies; D005884:Gingival Hemorrhage / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D010375:Pedigree; D011296:Prenatal Diagnosis; D013915:Thrombasthenia / Q000235:genetics* / Q000473:pathology