Diagnosis, clinical manifestations and management of rare bleeding disorders in Iran

Abstract

Since Iran has a high rate of RBDs with life-threatening bleeding, molecular studies can be used for carrier detection and, therefore, prevention of the further expansion of these disorders and their fatal consequence.

Intracranial haemorrhage in children with inherited bleeding disorders in the UK 2003‐2015: A national cohort study

“…Intracranial haemorrhage (ICH) in children with inherited bleeding disorders (IBDs) is a serious complication associated with significant mortality and long‐term neurological morbidity. Most previous cohort studies have been carried out in haemophilia; however, registries and small case series have also documented ICH in other IBDs, particularly the rare IBDs, severe Factor (F) VII, FX and FXIII deficiency …”

“…Intracranial haemorrhage has been estimated to occur in 3%‐4% of neonates with haemophilia and has been associated with trauma at delivery, leading to debate on the optimal mode of delivery . The incidence of ICH in older children with haemophilia has been estimated previously at 2.02‐7.96 per 1000 patient years, but is less well defined in the modern era where, at least in the developed world, prophylaxis commenced early in childhood is widespread and may offer protection against all types of bleeding .…”

Prenatal diagnosis in rare bleeding disorders—An unresolved issue?

“…This was performed for a foetus with severe FVIID, just before labour and delivery occurred without any abnormal bleeding . Although this case had good outcome, several foetuses with severe FVIID were delivered without such intervention . But it should be considered that ICH during labour is a challenge in patients with high risk of ICH such as congenital FXIIID .…”

“…Generally, the rate of ICH in delivery with forceps, vacuum extraction, caesarian section during labour and caesarian section before labour are 1 per 664, 860, 907 and 2750, respectively . Based on the available experiences for PND in congenital bleeding disorders, even vaginal delivery lead to the occurrence of ICH in congenital FXIIID and a considerable number of these patients experience this diathesis during labour . Therefore, further studies are required to resolve this issue.…”

“…These disorders most often inherited in autosomal recessive manner, except for some cases of FXI deficiency (FXID) and FID. Prevalence of RBD varies from 1 per 300 000 to 500 000 for FVIID to 1 per 2 million for FXIIID and FIID . Bleeding tendency significantly varies between these disorders, and most patients with combined FV‐FVIIID (CFV‐VIIID) and FVD have mild bleeding and patients with FXID bleeds only after trauma or surgery but most patients with FXIIID have severe life‐threatening bleeding .…”