Cutaneous gene therapy for haemophilia

Fakharzadeh, Steven

doi:10.1517/14712598.4.6.763

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Cited by 3 publications

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“…Fakharzadeh et al reported successful production of human factor VIII in factor VIII‐deficient transgenic mice by linking the human factor VIII gene with the human involucrin promoter. Suprabasal keratinocytes produced factor VIII, which resulted in the correction of factor VIII deficiency in these transgenic mice (11,12). Clinical trials using autologous skin fibroblasts transduced with a factor IX retroviral vector have also been initiated for hemophilia B (8).…”

Section: Discussionmentioning

confidence: 99%

Hemorrhagic Subcutaneous Nodules: An Initial Clinical Sign of Hemophilia A

Davis¹,

Butler²,

Greene

2007

Pediatric Dermatology

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A 9-month-old boy presented with multiple hemorrhagic subcutaneous nodules after treatment with oral antibiotics for an upper respiratory tract infection. Excessive bleeding after an incisional biopsy led to a diagnosis of hemophilia A. While this was an unexpected presentation of hemophilia, screening laboratory coagulation studies prior to biopsy would have revealed the etiology. Similar presentations should alert dermatologists to suspect an underlying coagulation defect prior to biopsy, thus averting bleeding complications.

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Section: Discussionmentioning

confidence: 99%