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A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency.
Platelets. 2020 Jul 07 [Online ahead of print]P

Abstract

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.

Authors+Show Affiliations

Department of Hematology, Copenhagen University Hospital , Rigshospitalet, Denmark.Department of Clinical Immunology, Greifswald University Hospital , Greifswald, Germany.Department of Clinical Immunology, Copenhagen University Hospital , Rigshospitalet, Denmark.Department of Haematology Research Laboratory, Herlev Hospital, Copenhagen University Hospital , Denmark.Department of Clinical Immunology, Greifswald University Hospital , Greifswald, Germany.Center for Genomic Medicine, Copenhagen University Hospital , Rigshospitalet, Denmark.Department of Hematology, Copenhagen University Hospital , Rigshospitalet, Denmark.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32633597

Citation

Brøns, Nanna, et al. "A Novel Homozygous GFI1B Variant in 2 Sisters With Thrombocytopenia and Severe Bleeding Tendency." Platelets, 2020, pp. 1-4.
Brøns N, Zaninetti C, Ostrowski SR, et al. A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency. Platelets. 2020.
Brøns, N., Zaninetti, C., Ostrowski, S. R., Petersen, J., Greinacher, A., Rossing, M., & Leinøe, E. (2020). A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency. Platelets, 1-4. https://doi.org/10.1080/09537104.2020.1786041
Brøns N, et al. A Novel Homozygous GFI1B Variant in 2 Sisters With Thrombocytopenia and Severe Bleeding Tendency. Platelets. 2020 Jul 7;1-4. PubMed PMID: 32633597.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency. AU - Brøns,Nanna, AU - Zaninetti,Carlo, AU - Ostrowski,Sisse Rye, AU - Petersen,Jesper, AU - Greinacher,Andreas, AU - Rossing,Maria, AU - Leinøe,Eva, Y1 - 2020/07/07/ PY - 2020/7/8/entrez KW - GFI1B KW - inherited thrombocytopenia;platelet disorder and ektacytometry. SP - 1 EP - 4 JF - Platelets JO - Platelets N2 - 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. SN - 1369-1635 UR - https://www.unboundmedicine.com/medline/citation/32633597/A_novel_homozygous_GFI1B_variant_in_2_sisters_with_thrombocytopenia_and_severe_bleeding_tendency L2 - http://www.tandfonline.com/doi/full/10.1080/09537104.2020.1786041 DB - PRIME DP - Unbound Medicine ER -
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