Factor VIII Level in the Potential Female Carrier Mothers of Patients with Hemophilia A and Its Impact on Joint Health

Background Hemophilia A is an X-linked bleeding disorder. The characteristic bleeding phenotype in patients with severe hemophilia is recurrent spontaneous hemarthrosis with development of hemophilic arthropathy. Heterozygous female carriers with factor VIII (FVIII) activity level lower than 40% may be at risk for bleeding that is usually comparable to that seen in males with mild hemophilia. Aim of the Work To assess factor VIII level in mothers of known patients of hemophilia A correlating it with the frequency of clinically and radiologically documented arthropathy. Patients and Methods A cross sectional study included 40 mothers of patient with hemophilia A during the period from September 2020 to September 2021. Studied participants were subjected to detailed analysis of bleeding history, six major joints range of motion (ROM) examination, functional independence score in hemophilia (FISH), FVIII level one stage assessment and magnetic resonant imaging (MRI) of the reported affected joints. Results Mean age of mothers is 42.25 ± 7.74 years. Eleven mothers (27.5%) had no bleeding symptoms, 16 (40%) had one bleeding symptoms and 13 (32.5%) had two or more bleeding symptoms. As regard joint pain, 13 (32.5%) had severe pain, 3 (7.5%) had ankle pain and 2 (5%) had elbow pain with a mean pain score of 2.55±3.32, and 7 (17.5%) had bilateral pain. Mean FVIII activity was 43.33 IU (± 22.79), ranging from FVIII (0 < 30 IU) in 13 (32.5%), FVIII (30 <60) in 18 (45.0%) and FVIII ≥ 60 IU in 9 (22.5%) among the studied participants. Knees were the most affected joints with decreased mean ROM (±SD) in right and left knees of (123.25 (±12.06) and 120.00 (±15.81)) respectively. The median MRI scores were studied was 5 (2.6%) with median osteochondral changes of 4 (2.5%) and median soft tissue changes of 1 (0-1), their median FISH score of 8 (8-9). By comparing groups at the level of factor VIII, there was no significant difference according to anthropometric bleeding parameters, pain, and MRI score. None of participants needed hospital admission, factor VIII replacement or packed red cells replacement. Conclusion Potential female hemophilia A carriers are at risk of spontaneous bleeding which may entail bleeding in the joints, causing early joint damage. They showed reduced overall joint ROM and structural osteochondral changes in MRI joint examination which mandates further studies about early detection of potential female hemophilia carriers for the possible need of early medical intervention.