Non-Oncologic Blood Disorders Patient & Family Handbook

A Family Guide to Non-Oncologic Blood Disorders

Congenital Amegakaryocytic Thrombocytopenia Al-Qahtani, F. S. (2010). Congenital amegakaryocytic thrombocytopenia: a brief review of the literature. Clinical Medicine Insights: Pathology, 3, 25-30. Children’s Hospitals and Clinics of Minnesota. (2011). Congenital amegakaryocytic thrombocytopenia (CAMT). Retrieved from http://www.childrensmn.org/services/cancer-and-blood-disorders/blood-disorders/bone-marrow-failure-program/congen- tial-amegakaryocytic-thrombocytopenia Steinberg, O., Gilad, G., Dgany, O., Krasnov, T., Zoldan, M., Laor, R., . . . Tamary, H. (2007). Congenital amegakaryocytic thrombocyto- penia-3 novel c-pML mutations and their phenotypic correlations. Journal of Pediatric Hematology/Oncology, 29(12), 822-825. Diamond Blackfan Anemia Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O’Donohue, M. F., Schneider, H., . . . Beggs, A. H. (2008). Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in diamond-blackfan anemia patients. The American Journal of Human Genetics, 83(6), 769-780. Lipton, J. M., Atsidaftos, E., Zyskind, I., Vlachos, A. (2006). Improving clinical care and elucidating the pathophysiology of diamond blackfan anemia: an update from the Diamond Blackfan Anemia Registry. Pediatric Blood Cancer, 46(5), 558-564. Diamond Blackfan Anemia Foundation. (2012). Diamond blackfan anemia: treatment options. Retrieved from: www.dbafounda- tion.org Vlachos, A., Ball, S., Dahl, N., Alter, B. P., Sheth, S., Ramenghi, U., . . . Lipton, J. M. (2008). Diagnosing and treating diamond blackfan anaemia: results of an international clinical consensus conference. British Journal of Haematology, 142(6), 859-876. Vlachos, A., Federman, N., Reyes-Haley, C., Abramson, J., Lipton, J. M. (2001). Hematopoietic stem cell transplantation for diamond blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Bone Marrow Transplant, 27(4), 381-386. Vlachos, A., & Muir, E. (2010). How I treat diamond-blackfan anemia. Blood, 116(19), 3715-3723. Dyskeratosis Congenita Walne, A. J., & Dokal, I. (2009). Advances in the understanding of dyskeratosis congenita. British Journal of Haematology, 145(2), 164-172. doi: 10.1111/j.1365-2141.2009.07598.x Fanconi Anemia Akiko, S. (2013). Inherited aplastic anemia in children. Up To Date. Retrieved from http://www.uptodate.com/contents/inherit- ed-aplastic-anemia-in-children Khan, S., Negrin, R.S. (2013). Hematopoietic cell transplantation for idiopathic severe aplastic anemia and Fanconi anemia in children. UpToDate. Retrieved from http://www.uptodate.com/contents/hematopoietic-cell-transplantation-for-idiopathic-se- vere-aplastic-anemia-and-fanconi-anemia-in-children Hurler Syndrome D’Aco, K., Underhill, L., Rangachari, L., Arn, P., Cox, G. F., Giugliani, R., . . . Kaplan, R. (2012). Diagnosis and treatment trends in mu- copolysaccharidosis I: findings from the MPS I Registry. European Journal of Pediatrics, 171(6), 911-919. Kakkis, E., & Wynn, R. (2013). Complications and management of the mucopolysaccharidoses. Up to Date. Retrieved from http:// www.uptodate.com/contents/complications-and-management-of-the-mucopolysaccharidoses

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