| Autor: |
Mimi Ganguly, Saurabh Sutradhar, Arghya Rajbangshi, Amrita Pattnaik, Dipshikha Maiti |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Journal of Family Medicine and Primary Care, Vol 11, Iss 6, Pp 3287-3289 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2249-4863 |
| DOI: |
10.4103/jfmpc.jfmpc_965_21 |
| Popis: |
Factor VII deficiency is a rare bleeding disorder showing an autosomal recessive pattern of inheritance. Data from our country on this particular entity is lacking. Especially the specific mutations associated with this disease are not well documented. The disease can have a wide spectrum of presentation from asymptomatic to catastrophic central nervous system or gastrointestinal system bleed. It can often present early in the neonatal period or be detected quite later in life. The genotype and phenotype correlation is also not well understood. Here, we report a case of recurrent bleeding in an infant boy who was otherwise absolutely well. His investigations had revealed isolated prolonged prothrombin time which remained uncorrected despite administration of injection vit K. Specific assay for factor VII level revealed that its value less than 1%. Sequencing of the F7 gene revealed our patient to be homozygous for mutation of promoter consensus sequence of F7 gene (-94C > T). |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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