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Inherited platelet disorders diagnosis is based on the clinical history and bleeding assessment tools. The laboratory functional assays as well as the molecular test to identify the pathogenic genetic variant are essential to confirm the accurate diagnosis of these disorders. Nowadays, the main challenges to developing a new diagnostic system are involved in reducing the samples' volume, and faster and more helpful analysis. Moreover, there are no widely available and standardised global tests. High throughput genetic testing such as next-generation sequencing has revolutionised DNA sequencing technologies as it allows the simultaneous and faster investigation of multiple genes at a manageable cost. This technology has improved the molecular characterisation of inherited platelet disorders and has been implemented in the research studies and the clinical routine practice., (Copyright © 2016 Elsevier España, S.L.U. All rights reserved.)

Background: Skin and mucous membrane hemorrhages are distinctive manifestations of hereditary diseases of primary hemostasis and, among them, the different types of von Willebrand disease and of platelet function disorders are the most prevalent., Aim: To know the relative frequency of these disorders and to know the clinical features of patients with mucocutaneous hemorrhages., Patients and Methods: Five hundred eighty nine patients whose main symptom was the presence of mucocutaneous hemorrhages were studied. Bleeding time, platelet count, coagulant activity of factor VIII (FVIII:C), FvW: Ag and FvW: CoRis and ABO blood group were measured in all patients in a first stage. According to the results of these tests, further studies were decided., Results: In patients younger than 13 years old, male predominated and, in older patients, females consulted with higher frequency. There was a higher proportion of individuals with O blood type than in the normal population. Bleeding time was abnormal in 330 patients (56%). One hundred ten patients (19%) had won Willebrand disease and, among them, one third had a normal bleeding time. Isolated reduction of factor WII activity was found in 66 patients (11%, 51 males) and 32 of these had normal bleeding time. Eighty one patients (14%) were considered to have an hereditary platelet function defect. A precise diagnosis was not achieved in 332 patients (56%)., Conclusions: Among patients consulting for mucocutaneous hemorrhages, 19% had von Willebrand disease, 11 had an isolated reduction of factor VIII activity, 14% had platelet function defects and in 56%, a precise diagnosis was not reached.

The laboratory tests used to establish the diagnosis of infection in the newborn period were studied and it was found that more than 700 band cells/mm3 in peripheral blood supported the diagnosis of sepsis and that concomitant thrombocytopenia increased these possibilities. Among the other tests, only the IgM was found of diagnostic value in cases of intrauterine infection.

Thirty-two patients with hereditary hemorrhagic diseases and a platelet functional abnormality were set apart from our group of patients with hereditary hemorrhagic diseases, and their symptoms, signs and hematological examinations were collected; the initial events and the age of the patients when they were obsserved, the main hemorrhagic manifestations during their clinical course, the clinical severity of the disorders, the survival of the patients and the laboratory test for hemostasis useful to make the diagnosis, were evaluated. In reference to bleeding time, thirty patients had abnormal bleeding time, but the other two had normal bleeding time.