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Identifier	Thesis 1544
Author	Sablosky, Marilyn
Title	Review of Fanconi anemia / Marilyn Sablosky
Publisher	Central Connecticut State University
Date	1999
Resource Type	Master's Thesis
Notes	Considering the pleiotropic manifestations of the rare, inherited, bone marrow failure disease, Fanconi Anemia, afflicted patients must be evaluated and monitored by specialty physicians (such as dermatologists, opthamologists, gastroenterologists, endocrinologists, gynecologists, orthopedic surgeons) in addition to a hematologist. Due to its status as an orphan disease, many physicians are not familiar with the clinical manifestations or the etiology of the disease. Families of newly diagnosed FA patients are concerned and sometimes confused about the nature of malformations associated or not associated with this disease. Both these populations could benefit from a detailed review that includes both the clinical and molecular perspectives of the disease. Research is progressing quickly and review articles are difficult for the average family to obtain. Sorting through journal articles and compiling a detailed "picture" of Fanconi Anemia (FA) is a necessary but a time consuming task for specialty physicians who treat FA patients. This review provides both families and physicians with a starting point aimed toward a better understanding of the disease. The "science" of Fanconi Anemia is complex and can be difficult for the lay person to comprehend. Families of young patients and older FA patients themselves often have to decide whether to participate in research protocols that don't necessarily have the potential for immediate personal benefit (e.g. providing bone marrow, fibroblast tissue samples or tumor samples, gene therapy trials, endocrinology studies, stem cell harvesting, cytokine studies). Therefore, the purpose of this review is also to familiarize FA families with the research of the leading investigators and enable them to "put a name with a face" when introduced at the yearly FA family/scientific meetings. Hopefully, this will facilitate dialogue and cooperation during these meetings, and aid patients and families in evaluating the pros and cons of participation in research protocols. As research progresses, the analysis and interpretation of the information presented in this review may be altered. However, the review will always provide a historical perspective as one monitors the progress of specific directions in Fanconi Anemia research. After compiling a bibliography dating primarily from the 1980's to 1999, specific aspects of research were selected to be included in this review if a least two investigators published articles relevant to the topic. However, this criterion does not negate the validity of the research not selected for review. As research progresses, "old" and sometimes discarded hypotheses are "revisited" and reinvestigated, and data reanalyzed. Until the functions of the normal (or wild type) FA proteins are established, divergent approaches employed in assessing the functions of the FA genes are necessary. Developing better and novel treatments for the disease hinges on the progress made in determining the functions of the FA gene products. Because treatment options are limited for Fanconi Anemia and most parents of FA children and adult FA patients are informed about their options, treatment was only briefly addressed in this review. This review provides a centralized reference pertaining to anomalies associated with Fanconi Anemia as well as research relevant to the understanding of the functioning of the normal and mutant FA genes. Hopefully this review will further my personal goal of educating physicians and the public bout the disease and its relevance to other disorders, particularly the evolution of malignancies.
Subject	Anemia Fanconi's anemia
Department	Department of Biological Sciences
Advisor	Martin-Troy, Kathy
Type	Text
Digital Format	application/pdf
Language	eng
OCLC number	42533930
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