Fig 1.
Pedigrees of the GTLS families described in this study.
Fig 2.
Comparison between GTLS patients, GTLS families and healthy relatives for the parameters analyzed in this study.
Abbreviations: ADP, Adenosine diphosphate; bFG, bound fibrinogen; BS, Bleeding score (ISTH/BAT); COL/ADP, collagen / ADP; COL/EPI, collagen / epinephrine; IPF, immature platelet fraction (%); GTLS, Glanzmann Thrombasthenia like syndrome; MPV, mean platelet volume (fL); PDW, Platelet volume distribution width (%); PLT, platelets (x109/L); PAI, platelet activation index; PFA, Platelet Function Assay; TRAP-6, Thrombin Receptor Agonist Peptide-6. Data information: Outliers displayed. Lower whiskers are 1.5 times the Inter-Quartile Range below the lower quartile, or the minimum value, whichever is closest to the middle. Upper whiskers are calculated using the same approach. P values were obtained using the Mann-Whitney test.
Fig 3.
Correlations between the parameters evaluated in GTLS patients, including bleeding scores, platelet counts, platelet indexes, platelet function assays and platelet glycoprotein expression levels.
Abbreviations: COL/ADP, collagen / ADP; COL/EPI, collagen / epinephrine; IPF, immature platelet fraction (%); GTLS, Glanzmann Thrombasthenia like syndrome; MPV, mean platelet volume (fL); PDW, Platelet volume distribution (%) width; PLT, platelets (x109/L); PFA, Platelet Function Assay. P values were obtained using the Spearman´s R correlation test.
Fig 4.
Platelet aggregation/agglutination in response to different agonists from a representative healthy control (N) and representative patients from GTLS families (panel A) obtained by lumiaggregometry, and platelet aggregation/agglutination tracings, from a representative healthy control and a representative GTLS patient (panel B). Abbreviations: GTLS, Glanzmann´s Thrombasthenia like syndrome; AA, arachidonic acid; ADP, adenosine diphosphate; COL, collagen; EPI, epinephrine; FSC, forward scatter; RIST, Ristocetin; TRAP-6, Thrombin Receptor Agonist Peptide-6. Histograms: blue, control platelets, red, patient platelets; gray, leukocytes.
Table 1.
Summary of the bleeding scores and the PLT counts and indexes, function assays and GP levels in GTLS patients and healthy relatives.
Table 2.
Summary of the basal and agonist induced PLT activation status as determined by FCM, in representative patients from the GTLS families and healthy controls, expressed as platelet activation indexes and as percentages of the normal values.
Table 3.
Summary of the genetic studies performed in the study GTLS families.
Table 4.
Genetic defects identified in the different families with thrombocytopenia, affecting the ITGA2B or the ITGB3 genes.