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- Title
A Large Deletion due to a New Mutation (Intron 13/Exon 23) in a Sporadic Case of Severe Hemophilia A.
- Authors
Lombardi, Anna Maria; Cabrio, Laura; Zanon, Ezio; Sartori, Maria Teresa; Navaglia, Filippo; Plebani, Mario; Girolami, Antonio
- Abstract
A case of sporadic hemophilia A in a young child was investigated from a molecular biology point of view. The propositus is a 4-year-old severe hemophiliac who was first seen when he was 2 years old. At that time, easy bruising and hematomas were noted because of accidental falls while toddling. The coagulation study showeda prolonged partial thromboplastin time and a factor VIII level of 1.3% of normal. Molecular biologic analysis showed a large deletion involving intron 13 up to exon 23. In the inversion study, the propositus exhibited only a 10 kb band, and this result suggests that intron 22 was deleted while his mother shows a normal pattern. To further examine the length of the deletion, a long polymerase chain reaction by means of primers amplifying the region from exon 13 to 23. In the index patient, an approximate 13-kb product was obtained, whereas no product was obtained from his mother. The mother investigated by means of polymorphism was shown not to be a carrier.
- Subjects
HEMOPHILIA in children; HEMOPHILIACS; BLOOD coagulation; THROMBOPLASTIN; DIAGNOSTIC use of polymerase chain reaction; GENETIC polymorphisms; JUVENILE diseases
- Publication
Clinical & Applied Thrombosis/Hemostasis, 2004, Vol 10, Issue 1, p61
- ISSN
1076-0296
- Publication type
Article
- DOI
10.1177/107602960401000110