Neonatal presentation of factor X deficiency
| Autor: | Arjani Patra, Qudsiya Ansari, Kailas G. Randad, Vinaya Ajaykumar Singh |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Indian Journal of Health Sciences and Biomedical Research KLEU, Vol 17, Iss 2, Pp 167-169 (2024) |
| Druh dokumentu: | article |
| ISSN: | 2542-6214 2542-6222 |
| DOI: | 10.4103/kleuhsj.kleuhsj_13_24 |
| Popis: | Factor X is a Vitamin K-dependent serine protease synthesized in the liver. It is a key factor of the coagulation cascade as it is the first enzyme of a common pathway that leads to the formation of a stable fibrin clot. Both intrinsic and extrinsic pathways can lead to factor X activation. Inherited factor X deficiency is a rare autosomal recessive bleeding disorder. Inherited factor X deficiency is caused by mutations of the factor X gene that result in reduced or aberrant function of the factor X protein. Symptomatically, homozygous patients with severe hemorrhagic symptoms present early in the neonatal or childhood period, whereas symptomatic heterozygotes may bleed only after severe major surgery or trauma. Here, we present a case of neonate presented with bleeding manifestation. The clinical manifestation and hematological workup showed a severe factor X deficiency. |
| Databáze: | Directory of Open Access Journals |
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