Investigation of Inflicted Injury in a Young Girl Reveals Mild Haemophilia A and Turner's Syndrome

V Williams; R Suppiah; Brian Coppin; C Nicholls; A Simsek; L McGregor

doi:10.1111/j.1751-553X.2011.01347.x

Investigation of Inflicted Injury in a Young Girl Reveals Mild Haemophilia A and Turner's Syndrome

V Williams, R Suppiah, Brian Coppin, C Nicholls, A Simsek, L McGregor

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

Abstract

A 2-year-old girl presented to casualty with a right knee effusion after apparently minor trauma. Inflicted injury was suspected and full forensic coagulation studies were performed which revealed a mild deficiency of factor VIII. Screening of the exons and intron/exon boundaries of F8 gene indicated that the child appeared to be homozygous for the missense mutation c.5123G>A (p.Arg1708His) in exon 14 of the F8 gene. This mutation has been reported to be associated with mild haemophilia A. The possibility of hemizygosity had been masked by the test kit employed but referral to the genetics service and subsequent array CGH resulted in a diagnosis of Turner syndrome.

Original language	English
Pages (from-to)	98-101
Number of pages	4
Journal	International Journal of Laboratory Hematology
Volume	34
Issue number	1
DOIs	https://doi.org/10.1111/j.1751-553X.2011.01347.x
Publication status	Published - Feb 2012

Keywords

Coagulation
Factor VIII
General haematology
Genetics
Haemophilia

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10.1111/j.1751-553X.2011.01347.x

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abstract = "A 2-year-old girl presented to casualty with a right knee effusion after apparently minor trauma. Inflicted injury was suspected and full forensic coagulation studies were performed which revealed a mild deficiency of factor VIII. Screening of the exons and intron/exon boundaries of F8 gene indicated that the child appeared to be homozygous for the missense mutation c.5123G>A (p.Arg1708His) in exon 14 of the F8 gene. This mutation has been reported to be associated with mild haemophilia A. The possibility of hemizygosity had been masked by the test kit employed but referral to the genetics service and subsequent array CGH resulted in a diagnosis of Turner syndrome.",

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AU - Nicholls, C

AU - Simsek, A

AU - McGregor, L

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AB - A 2-year-old girl presented to casualty with a right knee effusion after apparently minor trauma. Inflicted injury was suspected and full forensic coagulation studies were performed which revealed a mild deficiency of factor VIII. Screening of the exons and intron/exon boundaries of F8 gene indicated that the child appeared to be homozygous for the missense mutation c.5123G>A (p.Arg1708His) in exon 14 of the F8 gene. This mutation has been reported to be associated with mild haemophilia A. The possibility of hemizygosity had been masked by the test kit employed but referral to the genetics service and subsequent array CGH resulted in a diagnosis of Turner syndrome.

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Investigation of Inflicted Injury in a Young Girl Reveals Mild Haemophilia A and Turner's Syndrome

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Keywords

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