Fanconi anemia is a genetic disorder resulting from biallelic mutations in one of the 17 FANC genes. It is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. The underlying cause is genomic instability resulting from the deficiency in replication-dependent DNA interstrand crosslink repair pathway commonly referred to as the Fanconi anemia-BRCA pathway. Th...

this case report presents a case of fanconi’s anemia with an unusual thumb polydactyly in a 2-year old boy. the extra thumb had no nail, nail bed and distal phalanx. the extra thumb had no active motion.the duplication of the thumb occurred at the carpometacarpal joint but its morphology did not match with any classification described for thumb polydactyly. although his thumb polydactyly was ap...

Fanconi anemia (AF) is a hereditary genetic disease characterized by developmental abnormalities, progressive bone marrow failure, hypersensitivity to alkylating agents, and tendency hematological solid tumors throughout life. The only curative option in the treatment of failure patients with AF allogeneic hematopoietic stem cell transplantation (allo-HSCT). There are no detailed descriptions a...

The breast cancer susceptibility gene BRCA2 has recently been identified as identical to the Fanconi anemia (FA) gene FANCD1. Here we expand the clinical implications of this discovery. Notably, we identified 6 children in 5 kindreds exhibiting the co-occurrence of BRCA2 mutations, FA, and early onset acute leukemia. Leukemia occurred at a median of 2.2 years of age in the BRCA2 patients in con...

Schroeder-Kurth TM, Auerbach AD, Obe G (1989) Fanconi Anemia. Clinical, Cytogenetic and Experimental Aspects. Berlin, Germany, Springer Verlag Alter BP (1994) Clinical features of Fanconi anaemia. In: Young NS, Alter BP (eds) Aplastic Anaemia: Acquired and Inherited. W.B. Saunders, Philadelphia, pp 275-308 Auerbach AD, Buchwald M, Joenje H (2003) Fanconi anaemia. In: Vogelstein B, Kinzler KW (e...

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...

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)...

Fanconi anemia (FA) is an inherited chromosomal recessive syndrome characterized by cellular hypersensitivity to DNA crosslinking agents and bone marrow failure, which cause aplastic anemia, and an increased incidence of malignancy. 13 complementation groups are currently discovered, and 13 distinct genes have been cloned (FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FNACI, FANCJ, ...

We analyzed the factors and outcome of patients with disseminated adenovirus infection (dAdV) after allogeneic hematopoeitic stem cell transplantation (HSCT). Thirty patients with dAdV were identified among 620 allogeneic HSCT recipients. Primary diseases were leukemia (n=17), Fanconi anemia (n=12) or others (n=1). Source of stem cells was unrelated in 28 and related in 2 patients. The graft co...