دورية أكاديمية
A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency.
| العنوان: | A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency. |
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| المؤلفون: | Brøns N; Department of Hematology, Copenhagen University Hospital, Rigshospitalet, Denmark., Zaninetti C; Department of Clinical Immunology, Greifswald University Hospital, Greifswald, Germany., Ostrowski SR; Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Denmark., Petersen J; Department of Haematology Research Laboratory, Herlev Hospital, Copenhagen University Hospital, Denmark., Greinacher A; Department of Clinical Immunology, Greifswald University Hospital, Greifswald, Germany., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark., Leinøe E; Department of Hematology, Copenhagen University Hospital, Rigshospitalet, Denmark. |
| المصدر: | Platelets [Platelets] 2021 Jul 04; Vol. 32 (5), pp. 701-704. Date of Electronic Publication: 2020 Jul 07. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 9208117 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1369-1635 (Electronic) Linking ISSN: 09537104 NLM ISO Abbreviation: Platelets Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: London : Informa Healthcare Original Publication: Edinburgh ; New York : Churchill Livingstone, c1990- |
| مواضيع طبية MeSH: | Hemorrhage/*physiopathology , Proto-Oncogene Proteins/*metabolism , Repressor Proteins/*metabolism , Thrombocytopenia/*physiopathology, Adult ; Female ; Homozygote ; Humans ; Middle Aged ; Mutation |
| مستخلص: | Genetic variants in growth factor-independent 1B ( GFI1B ), encoding transcription factor GFI1B, are causative of platelet-type bleeding disorder-17. Presently, 53 cases of GFI1B associated inherited thrombocytopenia (IT) have been published, however only three were homozygous. The bleeding- and platelet phenotypes of these patients depend on location and inheritance pattern of the GFI1B variant. We report a novel homozygous GFI1B (Thr174Ile) variant located in the first Zinc finger domain of GFI1B in two sisters of Palestinian ancestry born to consanguineous parents. They experienced severe bleeding tendency at moderately reduced platelet counts. Flow cytometry and immunofluorescent microscopy confirmed the diagnostic features of GFI1B associated IT: a reduced content of alpha granules and aberrant expression of the stem cell marker CD34 on platelets. Transcription factor GFI1B is differentially expressed during hemato- and lymphopoiesis. In addition, to platelet function investigations, we present results of lymphoid subgroup analyses and deformability of red cells measured by ektacytometry. |
| فهرسة مساهمة: | Keywords: GFI1B; inherited thrombocytopenia;platelet disorder and ektacytometry. |
| المشرفين على المادة: | 0 (GFI1B protein, human) 0 (Proto-Oncogene Proteins) 0 (Repressor Proteins) |
| تواريخ الأحداث: | Date Created: 20200708 Date Completed: 20211130 Latest Revision: 20211130 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1080/09537104.2020.1786041 |
| PMID: | 32633597 |
| قاعدة البيانات: | MEDLINE |
PDF full text from Publisher | تدمد: | 1369-1635 |
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| DOI: | 10.1080/09537104.2020.1786041 |