Clinical Profile of Fanconi Anemia patients at our centre
نویسندگان
چکیده
منابع مشابه
Subtyping of Fanconi anemia patients: implications for clinical management.
Fanconi anemia (FA) is a rare autosomal recessive disease characterized by progressive bone marrow failure, congenital anomalies, and predisposition to cancer. At least 8 complementation groups for FA are known (A, B, C, D1, D2, E, F, G), and 7 FA genes have been cloned. FA cells are highly sensitive to the DNA crosslinking agents, mitomycin C (MMC) or diepoxybutane (DEB), thus providing the ba...
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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 کاملImmunological Evaluation of Patients with Fanconi Anemia
Fanconi anemia (FA) is a progressive bone marrow failure syndrome with multiple congenital anomalies and predisposition to various malignancies. Immune status of these patients has been investigated in a few studies. In our study we prospectively measured serum immunoglobulin (Ig) levels, and lymphocyte subgroup counts in 25 patients with FA. Median age of the patients was 12.5 years (1.5 – 27)...
متن کاملFanconi anemia
What is it? Fanconi anemia (FA) is an autosomal recessive human disease characterized by congenital malformations, bone marrow failure and cancer. FA patients often develop leukemia and/or squamous cell carcinomas of the head and neck or gynecologic system. FA cells are hypersensitive to DNA crosslinking agents, such as mitomycin C (MMC) or diepoxybutane (DEB), and the syndrome is believed to r...
متن کاملEndocrine abnormalities in patients with Fanconi anemia.
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: Pediatric Hematology Oncology Journal
سال: 2018
ISSN: 2468-1245
DOI: 10.1016/j.phoj.2018.11.109