Determinants and modifiers of bleeding phenotypes in haemophilia-A: General and tropical perspectives

Publication date: July 2018Source: Egyptian Journal of Medical Human Genetics, Volume 19, Issue 3Author(s): Umma A. Ibrahim, Sagir G. AhmedAbstractHaemophilia-A is an X-linked recessive bleeding disorder characterized by deficiency of FVIII. Although severity of haemophilia is largely determined by the extent to which different mutations abolish FVIII production, the overall phenotypic variations among haemophiliacs is determined by a combination of several other factors, which range from general to tropical factors on the one hand, and from genetic to immunologic and infective factors on the other hand. Determinants and modifiers of haemophilic bleeding phenotypes are important predictors of prognosis. However, tropical determinants of haemophilic bleeding phenotypes are virtually ignored because majority of haemophilia research originated from developed non-tropical countries. The aim of this paper is to present a balanced review of the haemophilic bleeding phenotypes from general and tropical perspectives. Hence, we present a concisely updated comprehensive review of the pathophysiologic and clinical significance of general vis-à-vis tropical determinants and modifiers of haemophilic bleeding phenotypes from genetic, immunologic and infective perspectives. Understanding of general phenotypic determinants such as FVIII gene mutations, immunological (inhibitors) and infective (e.g. hepatitis and HIV) complications, classical thrombophilias (e.g. FV-Leiden) and non-classical...

Source: Egyptian Journal of Medical Human Genetics - July 5, 2018 Category: Genetics & Stem Cells Source Type: research