Thrombocytopenia Inherited as an Autosomal Dominant Trait

Abstract

This report summarizes information obtained on four generations of a kindred afflicted with a mild hemorrhagic diathesis. Studies carried out on a family of eight members and platelet counts obtained on fifty-one additional members demonstrated only mild thrombocytopenia in eleven members of three generations. The thrombocytopenia appears to be inherited as an autosomal dominant trait.

Hereditary Thrombocytopenia

“…The autosomal dominant transmission of 'pure' thrombocytopenia has been reported recently in two families (Bithell et al 1965, Seip 1963. In addition to the thrombocytopenia there was hypersegmentation of polymorphonuclear leukocytes in the family of Bithell et al, as in our family 2.…”

Familial hereditary thrombocytopenia and HLA

“…The platelet volume was slightly increased in all cases, and the bone marrow examination that was performed in three affected members showed low to normal number of megakaryocytes. Similar cases of hereditary thrombocytopenia with a clinical course resembling ITP have been reported [1,2], but as far as we know this is the first family with HT in which investigation of class I HLA-A,B,C and class 11 HLA-DR antigens was performed.…”

“…Hereditary thrombocytopenia (HT) is a rare disorder and only a few families with several affected members have been described [1,2]. In the majority of the families reported, the mode of inheritance was autosomal dominant.…”

X‐linked idiopathic thrombocytopenia

“…In previous reports, autosomal dominant and X-linked thrombocytopenia has been attributed most commonly to defective platelet production (Bithell et al 1965, Myllyla et al 1967, Gutenberger et al 1970. Although megakaryocytes have usually been plentiful, several observers have noted decreased budding (Wooley 1956, Seip 1963, Ata et al 1956, Bithell et al 1965. Evidence for the presence of antiplatelet antibodies is conflicting (Schaar 1963, Gutenberger et al 1970).…”

“…The disorder has usually been mild. The onset was normally in infancy with a tendency to improve in Bithell et al (1965) Autosomal dominant Eosinophilia Canales 6 Mauer (1967) X-linked recessive Raised IgA Gutenberger et al (1970) X-linked recessive Raised IgA, glomerulonephritis Harms & Sachs (1965) Autosomal dominant Murphy et al (1969) Autosomal dominant Myllyla et al (1967) Autosomal dominant Quittner (1956) Autosomal dominant Roberts 8 Smith (1950) Autosomal recessive Schaar (1963) X-linked recessive Eosinophilia Seip (1963) Autosomal dominant Vestermark B Vestermark (1964) X-linked recessive Eczema, infections Weiden B Blaese (1972) X-linked recessive Eczema, raised IgA Witts (1932): Ata et al (1965) X-linked recessive Wooley (1956) Autosomal dominant Present report X-linked recessive adolescence. The most common symptoms were bruising, purpura or prolonged bleeding after surgery and trauma.…”