📂 Diseases
Bernard-Soulier syndrome type A2 — Definition
Bernard-Soulier sendromu tip A2 / Bernard-Soulier syndrome type A2
Bernard-Soulier syndrome type A2 is a rare hereditary bleeding disorder that appears as a result of mutations in GP9 gene, which coded the GPIX subunit in the glicoprotein Ib-IX-V complex located on the surface of platelets. Although the number of platelets in patients is usually low (trombocytopenia), the main problem is dysfunctional due to the fact that thrombocytes are dev-dimensional (macrotrombocycytes) and cannot be connected to the Willebrand factor. Clinically nasal bleeding manifests itself with symptoms of mukokutanous bleeding, such as gum bleeding, easy bruising and excessive bleeding after trauma.
Disease Definition
🔬 Disease Definition
Bernard-Soulier sendromu tip A2, trombositlerdeki GPIb-IX-V reseptör kompleksinin disfonksiyonu ile karakterize, nadir görülen bir kalıtsal kanama bozukluğudur. GP1BB genindeki mutasyonlardan kaynaklanır.
🧬 Causes & Risk Factors
GP1BB genindeki otozomal resesif mutasyonlar, trombosit yüzeyinde GPIb-IX-V kompleksinin eksikliğine veya işlev bozukluğuna yol açar.
🩺 Symptoms & Signs
Mukokutanöz kanama (burun kanaması, diş eti kanaması, kolay morarma), menoraji, travma veya cerrahi sonrası aşırı kanama, peteşi, ekimoz.
📋 Diagnostic Methods
Tam kan sayımı (trombositopeni), periferik yayma (dev trombositler), trombosit agregasyon testleri (ristosetin ile agregasyon yok, diğer agonistler normal), akım sitometrisi (GPIb eksikliği), genetik test (GP1BB mutasyonu).
💊 Treatment Options
Kanama kontrolü için desmopressin, antifibrinolitikler (traneksamik asit), trombosit transfüzyonu (alloantikor riski nedeniyle dikkatli), rekombinant faktör VIIa, gerektiğinde splenektomi (nadir).
⚠️ Complications
Kronik anemi, demir eksikliği, alloantikor gelişimi, kanama sonucu organ hasarı, nadiren intrakraniyal kanama.
Frequently Asked Questions
❓ What is Bernard-Soulier sendromu tip A2?
Bernard-Soulier sendromu tip A2; bernard-Soulier syndrome type A2 is a rare hereditary bleeding disorder that appears as a result of mutations in GP9 gene, which coded the GPIX subunit in the glicoprotein Ib-IX-V complex located on the surface of platelets. Although the number of platelets in patients is usually low (trombocytopenia), the main problem is dysfunctional due to the fact that thrombocytes are dev-dimensional (macrotrombocycytes) and cannot be connected to the Willebrand factor. Clinically nasal bleeding manifests itself with symptoms of mukokutanous bleeding, such as gum bleeding, easy bruising and excessive bleeding after trauma.
❓ What is Bernard-Soulier syndrome type A2 in Turkish?
The Turkish equivalent of "Bernard-Soulier syndrome type A2" is Bernard-Soulier sendromu tip A2.
❓ Which medical field is Bernard-Soulier sendromu tip A2 related to?
This term belongs to the Diseases category.