Fibrinogen BOE II: dysfibrinogenemia with bleeding and defective thrombin binding.

ABSTRACT:

Background

Variants of fibrinogen sequences that bind to thrombin's catalytic sites are mostly associated with bleeding phenotypes, while variants with fibrinogen nonsubstrate-thrombin-binding sites are commonly believed to cause thrombosis. AαGlu39 and BβAla68 play important roles in fibrin(ogen)-thrombin-nonsubstrate binding. The BβAla68Thr variant has been described in several unrelated families with apparent thrombotic phenotypes.

Objectives

Homozygous AαGlu39Lys variant (fibrinogen BOE II) was identified in a boy with dysfibrinogenemia who had multiple cerebral hemorrhages. A series of analyses were performed to assess the variant's functions and elucidate underlying bleeding mechanisms.

Methods

Abnormal fibrinogen was purified from plasma and subjected to Wester

SUBMITTER: Li Y 

PROVIDER: S-EPMC10439445 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature