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FVIII Gene Mutation Analysis and Evaluation of Clinical Data: One Center Result

A. Meral Gunes1, M. Sezgin Evim1, B. Baytan1, T. Atik2, S. Güler3

1Uludag University, Pediatric Hematology, Bursa, Turkey, 2Ege University, Pediatric Genetic, İzmir, Turkey, 3Uludag Univ., Pediatric Hematology and Oncology, Bursa, Turkey

Abstract Number: PB0328

Meeting: ISTH 2020 Congress

Theme: Coagulation and Natural Anticoagulants » FVIII/IX

Background: Hemophilia A is a X-linked hereditary bleeding disorder. According to mutation, decrease in FVIII level cause severe to mild phenotype. Development of FVIII inhibitor is the most feared complication of treatment.

Aims: We evaluated our Hemophilia-A patients’ mutations, factor levels and inhibitor status.

Methods: The data of 48 boys with Hemophilia A treated at Uludag University Pediatric Hematology Department were retrospectively screened. Patients’ factor levels and inhibitor status were recorded and compared with FVIII mutation type.

Results: Thirty-nine out of 48 patients were severe Hemophilia A; 4 moderate and 5 mild Hemophilia A. In severe Hemophilia A group; intron 22 inversion (n: 24), inversion 1(n:1), missense (n:3), nonsense (n:3), frame shift (n:3), deletion (n:5) mutations were detected. In moderate Hemophilia A group; 2 missense mutation were detected. In the rest (n:2) mutation analayses still continuing and MLPA test was planned. All of the mild Hemophilia A patients (n:5) had missense mutation. We found 3 novel missense mutations among our cases.
Of 48 patients, 8 (16.6%) had FVIII inhibitor. One of them had mild hemophilia A, inhibitor level was low responsive and became negative within one year. The remaining 7 patients had severe Hemophilia A (4 intron 22, 3 large deletion). Of the four cases with intron 22, two were siblings. In the other, there was no additional risk factor except intron 22. The remaining 3 patients with inhibitor had severe hemophilia with large deletion and they were close relatives.

Conclusions: In our study, the most common mutation was intron 22 inversion as noted in the literature. Only 4 (16.6%) of these cases had inhibitor. Three other patients with severe hemophilia A with inhibitor had large deletion. Three novel missense mutations found.

To cite this abstract in AMA style:

Meral Gunes A, Sezgin Evim M, Baytan B, Atik T, Güler S. FVIII Gene Mutation Analysis and Evaluation of Clinical Data: One Center Result [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/fviii-gene-mutation-analysis-and-evaluation-of-clinical-data-one-center-result/. Accessed August 15, 2022.

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