for ordinary PB0896|A Novel Hemizygous Variant in GATA1 Linked with Bleeding Diathesis and Platelet Dysfunction in Two Unrelated IL-15 Inhibitor Species Patients J.M. Bastida1,two,three,4; D. Boeckelmann5,6; V. Palma-Barqueros7,eight; M. Wolter1 five,erythropoiesis and megakaryocytic advancement. Germline GATA1 pathogenic variants (PV) are normally linked with X-linked thrombocytopenia, dyserythropoietic anemia and/or platelet dysfunction. Phenotype/genotype correlation is essential to greater have an understanding of the diversity of uncommon GATA1 PV. Aims: To characterize bleeding and platelet phenotype in two sufferers by using a novel GATA1 variant recognized by high throughput sequencing (HTS). Solutions: Two male index sufferers, (G1, 14 y; S2, 46 y), who presented with lifelong bleeding tendency are investigated. Bleeding score (BS) was recorded with ISTH-BAT. Platelet phenotyping included full blood count (FBC), aggregometry (LTA), movement cytometry (FC), and electron microscopy (EM). Molecular examination was performed by HTS panel. Benefits: Patient traits are proven in table one.; M.L Lozano ; H. Glonnegger7,5,; R. Benito2,; F.HSchilling9; N. Morgan10; K. Freson11; J. Rivera7,8,4; B. Zieger5,six Complejo Asistencial Universitario de Salamanca (CAUSA), Salamanca,Spain; 2Instituto de Investigaci Biom ica de Salamanca (IBSAL), Salamanca, Spain; Universidad de Salamanca (USAL), Salamanca, Spain; 4Grupo Espa l de Alteraciones Plaquetarias Cong itas (GEAPC), SETH, Spain; 5Division of Pediatric Hematology and Oncology Health care Center, Freiburg, Germany; 6University of Freiburg, Faculty of Medication, Freiburg, Germany; 7Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci , Murcia, TABLEPatient Bleeding symptoms German one (G1)Spanish two (S2) Epistaxis, ecchymosis, prolonged bleeding right after dental surgical treatment (essential profylaxis with tranexamic acid and DDVAP) impaired wound healingEpistaxis, ecchymosis, prolonged bleeding right after dental surgery, impaired wound healingFBC: RBC (T/L) Hb (g/dL) MCV (fL) Platelet (G/L) MPV (fL) LTA: Collagen (2.0g/mL) Collagen (10g/mL) CRP (5.0g/mL) Ristocetin (1.2mg/mL) ADP (4M) / (5M) ADP (20 M)/(ten M) Epinephrine (8M) / (5M) Epinephrine (40mol/L) Arachidonic (0.3mg/mL) Arachidonic (one.five mM) TRAP (25 uM)three.73 (N: three.seven.5) 11.5 (N: 115) 97 (N: 700) 256 (N: 10036) 7.9 (N: 72) 41 (N 70) 61 (N 85) twelve (N 70) 37 (N 70) six (N 70) eight (N 70) 46 (N 70) -4.1 (N: 3.5.8) 12 .8 (N: 138) 99.3 (7900) 123, 215, 134 (N: 15000) ten.9 (N: six.81.8) 2 (N85) 33 (N85) 15 (n85) 93 (N85) 54 (N85) 67 (N85) 35 (N85) two (N85) 73 (N85) 61 (N85)ABSTRACT669 of|TABLEPatient German 1 (G1) Spanish two (S2)FC GP expression (GPIb/IX, GPIIb/ IIIa and GPVI) CD62 CDEMNormal Severely decreased Reasonable decreasedNormal Severely decreased Moderate decreasedNot conductedMild defect in -granulesBS, for the two patients, was ten. FBC showed mild anemia and anisocytosis and poikilocytosis in the two individuals, and normal platelet count in G1 but variable in S2 ranging from 12315 G/L in numerous analysis. In each individuals, LTA showed significant impaired response to Col, ADP, Epi, TRAP and CRP but regular expression of platelet glycoproteins. FC uncovered severely decreased agonist-induced alpha and reasonable dense granules secretion. EM (S2) also showed moderated alpha-granule defect. HTS panel identified a novel missense variant (c.865CT; p.Cathepsin K Inhibitor manufacturer His289Tyr) in GATA1 classified like a likely PV which is absent in gnomAD population database. This variant is found while in the C-terminal Znfinger domain and disrupts a remarkably conser