Literature DB >> 694428

Fletcher factor deficiency: report of a new family.

J A Aznar, F España, J Aznar, A Tascon, C Jimenez.   

Abstract

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.

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Year:  1978        PMID: 694428     DOI: 10.1111/j.1600-0609.1978.tb02498.x

Source DB:  PubMed          Journal:  Scand J Haematol        ISSN: 0036-553X


  2 in total

1.  Characterization of a variant prekallikrein, prekallikrein Long Beach, from a family with mixed cross-reacting material-positive and cross-reacting material-negative prekallikrein deficiency.

Authors:  B N Bouma; D M Kerbiriou; J Baker; J H Griffin
Journal:  J Clin Invest       Date:  1986-07       Impact factor: 14.808

2.  HLA typing in a new family with Fletcher factor deficiency.

Authors:  C Raffoux; P Alexandre; P Perrier; M E Briquel; F Streiff
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

  2 in total

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