Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study [see comments]
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چکیده
منابع مشابه
Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study.
We analyzed data from 388 subjects with Fanconi anemia reported to the International Fanconi Anemia Registry (IFAR). Of those, 332 developed hematologic abnormalities at a median age of 7 years (range, birth to 31 years). Actuarial risk of developing hematopoietic abnormalities was 98% (95% confidence interval, 93% to 99%) by 40 years of age. Common hematologic abnormalities were thrombocytopen...
متن کاملPhenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.
Fanconi anemia (FA) is a genetically and phenotypically heterogeneous disorder defined by cellular hypersensitivity to DNA cross-linking agents; mutations in the gene defective in FA complementation group C, FAC, are responsible for the syndrome in a subset of patients. We have performed an analysis of the clinical effects of specific mutations in the FAC gene. Using the amplification refractor...
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Background: Fanconi anemia (FA) is a rare, autosomal recessive (AR) and multifactorial disorder. A high prevalence of FA observed in Iran is perhaps due to the high rate of consanguineous marriages. This study investigates the extent of short stature in patients with FA, the frequency of hypothyroidism in FA and the correlation between height and hypothyroidism. Methods: Eighteen patients with ...
متن کاملHearing and Ear Abnormalities in Fanconi Anemia
In 1927, Guido Fanconi, MD, noticed an association between ear anomalies and FA. In a 1993 review of 370 patients with FA, hearing loss was documented in 11.3% of cases and ear malformations in 14.9%.1 However, detailed ear manifestations in FA have not been well described in the literature. This chapter will describe normal anatomy and function of the ear, types and degree of hearing loss, the...
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BACKGROUND Fanconi anemia (FA) is an inherited disorder with chromosomal instability, bone marrow failure, developmental defects, and a predisposition to cancer. Systematic and comprehensive endocrine function data in FA are limited. OBJECTIVE We studied a cohort of FA patients enrolled in the National Cancer Institute's Inherited Bone Marrow Failure Syndrome study. STUDY DESIGN AND PATIENT...
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ژورنال
عنوان ژورنال: Blood
سال: 1994
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v84.5.1650.1650