ALBERT

Description: Background: Diamond Blackfan anemia (DBA) is a rare, congenital bone marrow failure syndrome characterized by red cell aplasia, birth anomalies, and a predisposition to cancer. Due to a primarily autosomal dominant mode of inheritance, DBA affects males and females at a ratio of 1:1. Treatment consists of corticosteroid administration and chronic red cell transfusion therapy and in some cases hematopoietic stem cell transplantation. Current clinical observations suggest that women with DBA may experience delayed puberty, irregular menstrual cycles, and decreased fertility. Women who do become pregnant may sustain a higher than average risk of pregnancy complications, including miscarriage, placental abruption, and stillbirth, and others of vascular-placental origin (Faivre et al. Haematologica, 2006). Anecdotal reports suggest that DBA women experience changes to treatment response and remission status during periods characterized by hormonal fluctuations; namely, puberty and pregnancy. The etiology of these complications is unclear. Methods: Questionnaires were sent to females greater than 15 years of age (n=224) participating in the Diamond Blackfan Anemia Registry of North America (DBAR), a comprehensive database of 720 patients who are enrolled after obtaining informed consent. The questionnaires ask about menstrual and gynecologic health and pregnancies, focusing on complications, treatment requirements, and outcomes. We grouped patients by steroid and/or transfusion dependence status and/or remission before age 12 to analyze the effects of treatment on menarche. The patients were regrouped based on the majority of their treatment to evaluate for gynecologic health and pregnancy complications. The Fisher’s exact test was used to examine associations between variables. When compared to the general population, normal values were obtained from a variety of sources including the American Academy of Pediatrics, the National Institutes of Aging and the March of Dimes. Results and Conclusions: We reviewed results from 84 women aged 15 to 62 years (median age 28.6 years). Menarche was delayed in both steroid dependent and transfusion dependent girls, with 39.5% and 77.8%, respectively experiencing menarche at age 15 or later (vs 2% normal). Transfusion dependent girls were significantly more likely to have delayed menarche compared to the steroid dependent and remission groups (p