Ferritin Levels in a Cohort of Affected Males of Mild Hemophilia A Carriers and Their Unaffected Siblings.

Iron deficiency is often used as a surrogate marker of bleeding. According to (multiple) studies, suboptimal iron stores can affect cognitive function, energy level and hence, quality of life. Due to a founder affect certain regions of the Canadian province of Newfoundland and Labrador have a very high prevalence of mild Hemophilia A. To accurately plan for future health related needs of these patients, a base-line cross-sectional study of a large cohort segregating a known founder mutation (Val2016Ala) was undertaken. Serum ferritin concentrations, complete blood counts (CBCs), menstrual blood loss assessed using Pictorial Blood Loss Assessment Chart (PBAC), bleeding histories, BMIs, and quality of life data using the SF-36 questionnaire were collected. Prevalence(%) of Suboptimal Iron Status for Women and Men Sub-Grouped By Menstrual Status and Mutation Status Serum Ferritin Cut-off(ug/L) **P Chi-Square <0.001 *P Chi-Square <0.01 Cohort <11 <24 <40 <50 Females(n=141) 12.1* 37.6** 55.3** 62.4** Males(n=77) 1.3* 4.1** 6.5** 6.5** Menstruating Women(n=81) 15.0 54.3** 71.6** 80.2** Non-Menstruating Women(n=58) 8.6 15.5** 31.0** 36.2** Menstruating Carriers(n=46) 8.7 50.0 65.2 73.9 Menstruating Controls(n=35) 23.5 60.0 80.0 88.6 Affected Males(n=46) 0.0 4.3 6.5 6.5 Control Males(n=31) 3.2 3.2 6.5 6.5 § Six women had hemoglobin concentrations less than 120 g/L and 11 men had concentrations less than 140 g/L, with anemia comparably observed in patients with or without the mutation(data not shown). Women in general reported a lower mean General Health Scale score (63.9, 59.9–67.9 vs. 70.6, 69.5–71.7) and a higher mean Role Emotional Scale score (89.3, 85.8–92.8 vs 79.5, 77.7–81.3) than norms for the general U.S. population. Men with a history of severe bleeding had significantly lower ferritin levels than men without a history of severe bleeding (123.4 g/L, 63.6–186.3 g/L, 105.9–301.5; p <0,05). Mutation status did not influence iron status in either sex or menstrual blood loss in women as measured by the PBAC. Serum ferritin level was not associated with PBAC score. Neither the means of the eight SF-36 domains, health transition scale, nor the two component summary measures were significantly lower for mildly iron-deficient or iron-deficient women. The SF-36 is a general measure of various quality of life domains and may not be sensitive enough to measure the effects iron deficiency could potentially have on women’s cognition and fatigue. A study using measures more sensitive to these affects would better investigate the impact of iron deficiency. Further research is also required to determine whether the low ferritin levels observed in women could possible be a result of inadequate dietary intake of iron or insufficient iron absorption in addition to menstrual blood loss.