Variations in platelet number, volume, and function are largely genetically controlled, and
many loci associated with platelet traits have been identified by genome-wide association …

Over the last 100 years the role of platelets in hemostatic events and their production by
megakaryocytes have gradually been defined. Progressively, thrombocytopenia was …

Actinins are one of the major actin cross-linking proteins found in virtually all cell types and
are the ancestral proteins of a larger family that includes spectrin, dystrophin and utrophin …

Background Heritable bleeding and platelet disorders (BPD) are heterogeneous and
frequently have an unknown genetic basis. The BRIDGE-BPD study aims to discover new …

Essentials• There are many hereditary platelet disorders (HPD) but diagnosing these is
challenging.• We provide a method to diagnose several HPDs using standard blood smears …

Thrombocytopenia is defined as a status in which platelet numbers are reduced. Imbalance
between the homeostatic regulation of platelet generation and destruction is 1 potential …

Inherited platelet disorders are important conditions that often manifest with bleeding. These
disorders have heterogeneous underlying pathologies. Some are syndromic disorders with …

Platelets are anuclear cells that are essential for blood clotting. They are produced by large
polyploid precursor cells called megakaryocytes. Previous genome-wide association studies …

Since the beginning of the century, our knowledge of inherited thrombocytopenias greatly
advanced, and we presently know 30 forms with well-defined genetic defects. This great …

Circulating blood cell counts and indices are important indicators of hematopoietic function
and a number of clinical parameters, such as blood oxygen-carrying capacity, inflammation …