Haemophilia 2 : some manifestations of haemophilia

Abstract

Present day concepts on haemophilia have altered since Bullock and Fildes (1911) established the disease as clinical entity Since then Christmas disease (Biggs et al, 1952) was separated from classical haemophilia, and other distinct conditions such as P.T.A. (Plasma thromboplastin antecedent) by Rosenthal et al (1953). Originally haemophilia was restricted to excessive bleeding disorders manifested from infancy, restricted to the male sex and transmitted by apparently normal females. Now, evidence of similar conditions arising in adult patients is forthcoming and apparently, 25-30% of all cases appear to have no family history of the condition. (Biggs and Macfarlane, 1957). The nomenclature of congenital deficiencies of blood coagulation factors and mode of inheritance is shown in Table I. This paper is restricted to a consideration of some manifestations of classical haemophilia, (Haemophilia A, Biggs and Macfarlane, 1957) and illustrated by means of three family histories, two Maltese and one an Italian family resident in Malta.