Detection of intron 22 inversion of factor VIII gene in severe hemophilia A patients.
- Author:
Zhi-ping GUO
1
;
Jian-fang CHEN
;
Xiu-yu QIN
;
Yao-fang ZHANG
;
Lin-hua YANG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Child; Child, Preschool; Chromosome Inversion; Chromosomes, Human, X; Factor VIII; genetics; Female; Hemophilia A; genetics; Heterozygote; Humans; Infant; Introns; Male; Middle Aged; Pedigree
- From: Chinese Journal of Hematology 2013;34(11):918-921
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the incidence of intron 22 inversion (INV22) of factor VIII (FVIII) gene in severe hemophilia A (HA) patients, clarify its pathological mechanism, and identify INV22 carrier in the female family members.
METHODSOne-stage method was used to assay the FVIII activity (FVIII:C)in 126 severe HA patients with a median age of 14 years old (range: 4 months-63 years). INV22 was analyzed by long-distance polymerase chain reaction (LD-PCR) and pulsed field gel electrophoresis (PFGE), and pedigree were conducted in 3 involved HA families.
RESULTSOf all the 126 severe HA, 52 (41.3%) cases had the INV22. Four females including 3 mothers and 1 sister of probands were diagnosed as INV22 carriers among 11 suspected carrier mosaicisms from 3 INV22 positive HA families. In 8 females from one family without HA history, the patient's mother was a INV22 carrier, but her maternal grandmother, 2 maternal aunts, 2 female siblings and 1 elder female cousin were negative.
CONCLUSIONLD-PCR and PFGE could be used to diagnose severe HA patients with INV22 and identify the carriers.
