Peculiar Congenital Factor VII Defect with the Proposita and Her Mother Showing the Same Compound Heterozygosity for Thr384Met and Arg413Gln

Autor:	Diana García, Antonio Girolami, Mariano Paoletti, Silvia Ferrari
Rok vydání:	2020
Předmět:	medicine.medical_specialty Factor VII business.industry Hematology General Medicine Compound heterozygosity chemistry.chemical_compound Endocrinology chemistry Internal medicine medicine business Factor VII deficiency Maternal grandfather
Zdroj:	Acta Haematologica. 144:100-104
ISSN:	1421-9662 0001-5792
DOI:	10.1159/000507071
Popis:	Objective: To investigate a family with factor VII (FVII) deficiency from Argentina. Patients and Methods: The proposita is a 14-year-old girl who presented with a mild to moderate bleeding tendency. Menorrhagia is controlled with periodical administration of small doses of recombinant FVII concentrate. The mother of the proposita has a similar bleeding tendency. Results: FVII activity in both patients was 20% of normal; FVII antigen was 35% of normal. Molecular biology investigation revealed that the proposita was compound heterozygote between Thr384Met and Arg413Gln. The mother had the same mutations. This was due to the fact that the father of the proposita and her maternal grandfather both carried, in spite of no relation, the same mutation, namely Arg413Gln. Conclusions: The identical defect which presented in the propositaand her mother could be explained by the genetic analysis of the father and maternal grandfather of the proposita who happened to have the same mutation (Arg413Gln).
Databáze:	OpenAIRE
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