Factor XIII Deficiency in a Moroccan Infant: A Case Report of a Rare Bleeding Disorder

摩洛哥一名婴儿的因子XIII缺乏症:一例罕见出血性疾病的病例报告

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Abstract

Factor XIII deficiency (FXIIID) is a rare autosomal recessive hereditary bleeding disorder caused by heterogeneous mutations, leading to potentially life-threatening hemorrhages and early fetal loss. FXIII plays a vital role not only in cross-linking fibrinogen to stabilize clot formation but also in wound healing, angiogenesis, and fetal viability. Diagnosing FXIIID is particularly challenging, as standard coagulation assays typically yield normal results, necessitating specific FXIII testing an additional barrier in resource-limited settings such as developing countries. Early diagnosis is crucial, especially due to the high risk of intracranial bleeding. We report the case of an infant who was admitted for postcirumcision bleeding and was ultimately diagnosed with congenital FXIII deficiency.

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