X-linked thrombocytopenia and thrombocytopathia: attenuated Wiskott-Aldrich syndrome. Functional and morphological studies of platelets and lymphocytes

• Published in: Thrombosis and haemostasis Vol. 65; no. 3; p. 300
• Main Authors: Stormorken, H, Hellum, B, Egeland, T, Abrahamsen, T G, Hovig, T
• Format: Journal Article
• Language: English
• Published: Germany 04.03.1991
• Subjects: Adenosine Diphosphate - blood; Adenosine Triphosphate - blood; Adolescent; Bleeding Time; Blood Coagulation - physiology; Blood Platelet Disorders - blood; Blood Platelets - pathology; Blood Platelets - physiology; Genetic Linkage; Humans; Lymphocytes - pathology; Lymphocytes - physiology; Male; Pedigree; Platelet Count; Platelet Membrane Glycoproteins - metabolism; Severity of Illness Index; Thrombocytopenia - blood; Thrombocytopenia - genetics; Wiskott-Aldrich Syndrome - blood; Wiskott-Aldrich Syndrome - genetics; X Chromosome
• ISSN: 0340-6245
• DOI: 10.1055/s-0038-1648139

Detailed studies on the rare disorder X-linked thrombocytopenia showed that it resembles the Wiskott-Aldrich syndrome (WAS) in inheritance, clinical bleeding tendency, platelet morphology, marked thrombocytopenia and microplatelets. The calculated platelet mass was 5% of normal. Functional and biochemical studies indicated qualitatively normal aggregation and release mechanisms, whereas a moderate storage pool defect was present. The classical platelet membrane glycoproteins and lymphocyte sialophorin (CD 43) were normal. The reason for the bleeding tendency was concluded to be deficient hemostatic plug formation resulting from the low platelet mass and a moderate storage pool defect. The only clear distinction from WAS was the normal immunofunctional tests, the moderate tendency to infections and the absence of eczema. We therefore consider the trait as an attenuated form of WAS. That women are affected may indicate a particular variant.