Perla Bandini: Genetic and Functional Insights into Inherited Platelet Dysfunction
Perla Bandini, Predoctoral Researcher at Blood and Tissue Bank in Barcelona, shared a post on LinkedIn about a recent article she and her colleagues co-authored, adding:
“We are excited to share that the Laboratory of Congenital Coagulopathies has published a new research letter in the British Journal of Haematology:
‘Co-inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction.’
In this study, we report a proband presenting macrothrombocytopenia and bleeding, in whom two candidate variants in TUBB1 and ITGA2B were identified by Whole-exome sequencing.
Through extensive family segregation analysis and RNA sequencing, we were able to unravel the contribution of each variant to the phenotype observed in the proband and her family.
Our findings highlight:
- The first reported case of oligogenic inheritance involving TUBB1 and ITGA2B.
- The first described family with Bleeding Disorder Platelet Type 16, caused by an autosomal dominant ITGA2B variant, presenting with variable bleeding severity but notably without macrothrombocytopenia.
This work underscores the importance of combining genetic and functional approaches to better understand complex cases of inherited platelet disorders.
Congratulations to all co-authors and collaborators involved in this work!”
Title: Co-inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction
Authors: Perla Bandini, Nina Borràs, Laura Martin-Fernandez, Nuria Fernández-Mosteirín, Maria Reyes Aguinaco, Olga Benítez, Natàlia Comes, Lorena Ramírez, Noemí González, Carina Lera, Carme Altisent, Francisco Vidal, Irene Corrales
Read the Full Article on British Journal of Haematology
See more in the gallery.
Stay updated on all scientific advances with Hemostasis Today.
-
Sep 24, 2026, 05:38Aya Qattan: When a Normal CBC Does Not Mean Normal Iron Status
-
Sep 24, 2026, 05:11Mastering Warm Autoimmune Hemolytic Anemia Diagnosis and Practice – ASH Education
-
Sep 23, 2026, 16:04Monia Ezzalfani: Advancing Patient-Centered Care in Hemophilia A and B
-
Sep 23, 2026, 15:49Bilge Başak: How Activated PRP Modulates Osteoarthritic Chondrocyte Function
-
Sep 23, 2026, 14:50Mbonjo Bitsie Dora: Strengthening Sickle Cell Care Through Education, Awareness and Innovation
-
Sep 23, 2026, 13:58The New B12 Diagnostic Algorithm: From Serum Cobalamin to Functional Deficiency
-
Sep 23, 2026, 13:56Noha Soror: Preparing for Hematology and Medical Oncology Board Certification
-
Sep 23, 2026, 13:46Ugochi Ogu: What Can Platelet Proteomics Reveal about Pain and Neurocognitive Vulnerability in Sickle Cell Disease?
-
Sep 23, 2026, 13:42Melissa Hollo: Connecting Obesity and Anemia for Earlier Maternal Risk Intervention