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Fletcher Factor Deficiency: Report of a New Family
Author(s) -
Aznar J. A.,
España F.,
Aznar J.,
Tascon A.,
Jimenez C.
Publication year - 1978
Publication title -
scandinavian journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0036-553X
DOI - 10.1111/j.1600-0609.1978.tb02498.x
Subject(s) - arthrogryposis , consanguinity , medicine , pediatrics , surgery
3 cases of Fletcher factor deficiency in a family not related to the 6 families already published (Hathaway et al 1965, Hattersley & Hayse 1970, Abildgaard & Harrison 1974) are studied. In the family described here, 3 of 4 siblings have a Fletcher factor level of less than 1 % and the fourth has a level of 46 %; the Fletcher factor level in the father is 48 % and in the mother 38 %. This suggests an autosomal recessive transmission. Clinically they do not present spontaneous bleedings and only one of the siblings required a unit of blood after an amygdalectomy. It is also of interest to emphasize that 3 of the siblings suffered from congenital multiple arthrogryposis and that 2 of them presented the arthrogryposis together with the Fletcher factor deficiency, a circumstance which could have been favored by the consanguinity of the parents. The fact that the family described here is white and of Mediterranean origin contradicts the idea that there exists a special predisposition among members of the black race for this disease.