Factor VIII gene sequence investigation in patients with hemophilia a

Hemophilia is an inherited disease with X chromosome-linked recessive inheritance, which occurs with a deficiency or disorder of one of the proteins involved in blood clotting, factor VIII (FVIII) and factor IX (FIX). In our study, factor VIII gene sequence analysis of hemophilia A patients who applied to our center was performed and it was aimed to investigate the relationship between the hemophilia status, presence of factor inhibitors, and arthropathy and the factor VIII gene sequence of the patients. The mean age of the patients was 41.26 ± 15.9 years. In the evaluation of the disease form according to the factor level, 22 patients (81,5%) were found to be severe form, 4 patients (14,8%) moderate form, and 1 patients (3,7%) mild form. Factor inhibitors were present in 3 (11.1%) of the patients, and no factor inhibitor could be detected in the remaining 24 patients (88.9%). When joint destruction of recurrent hemarthroses was examined, arthropathy was found in 19 patients (70.4%), and arthropathy was not present in 8 patients (29.6%). When the family history of the patients was questioned, the family history was positive in 20 patients (74.1%) and no family history was found in 7 patients (25.9%). Hemizygous mutations were detected in 16 of the patients (59.2%). Of these patients, 7 (25.9%) of the patients with extensive nonsense mutations had severe and 1 (3.7%) moderate. It was found that 1 (3.7%) with the missense mutation was in the severe form and 3 (11.1%) were in the intermediate form. It was determined that 4 years old (14.8%) with frameshift mutation was the severe form. Continents where 7 (25.9%) of the patients with nonsense mutation have a defined mutation and 1 (3.7%) has a new mutation. It was determined that he had a 3-jointed (11.1%) missense mutation and a new mutation with a 1-join (3.7%) mutation. It was determined that 3 (11.1%) of 4 patients with Frameshift mutation had a defined mutation and 1 patient (3.7%) had a new mutation. In patients with hemophilia A, it is recommended to investigate the mutation types and the presence of a new mutation in each patient.