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 ...

1. Rathbun RK, Christianson TA, Faulkner GR, et al. Interferon-g-induced apoptotic responses of Fanconi anemia group C hematopoietic progenitor cells involve caspase 8-dependent activation of caspase 3 family members. Blood. 2000;96:4204-4211. 2. Rathbun RK, Faulkner GR, Ostroski MH, et al. Inactivation of the Fanconi anemia group C (FAC) gene augments interferon-gamma-induced apoptotic respons...

1. Rathbun RK, Christianson TA, Faulkner GR, et al. Interferon-g-induced apoptotic responses of Fanconi anemia group C hematopoietic progenitor cells involve caspase 8-dependent activation of caspase 3 family members. Blood. 2000;96:4204-4211. 2. Rathbun RK, Faulkner GR, Ostroski MH, et al. Inactivation of the Fanconi anemia group C (FAC) gene augments interferon-gamma-induced apoptotic respons...

effects in normal human, Fanconi’s anaemia and xeroderma pigmentosum cells. Br J Cancer 67:1285, 1993 3. Hang B, Yeung AT, Lambert MW: A damage-recognition protein which binds to DNA containing interstrand cross-links is absent or defective in Fanconi anemia, complementation group A cells. Nuclic Acids Res 21:4187, 1993 4. Yamashita T, Kupfer G, Naf D, Suliman A, Joenje H, Asano S, D’Andrea AD:...

The inherited bone marrow failure syndromes are traditionally considered to be pediatric disorders, but in fact, many of the patients now are diagnosed as adults, and many diagnosed as children now live to reach adulthood. The most common of these rare disorders include Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome and amegakaryocytic thrombocytopenia, which often develop a...

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...

In this issue of Blood, MacMillan et al give the results of sequential modifications of the conditioning regimen to improve the outcome of unrelated bone marrow transplantation in Fanconi anemia (FA). Over a period of 10 years, they show that transplant toxicity has decreased and engraftment has improved, resulting in a 5-year overall survival probability of 94%. The major change was the use of...

Fanconi anemia is an extremely rare genetic disease characterized by chromosomal instability that induces congenital alterations in individuals. It causes defective hemopoiesis ultimately leading to bone marrow failure. Patients are susceptible to recurrent infections and increased risk of hemorrhage, as well as delayed and poor wound healing. Herein, we report a case of Fanconi anemia in which...

Fanconi anemia is known to have a predisposition to cancer, mostly associated with acute myeloid leukemia. We report an eight year old girl with treatment and naive FA who developed acute lymphoblastic leukemia. She was initiated on chemotherapy but she failed to respond to treatment and died during induction phase of chemotherapy. While this association may be coincidental but possibility of t...

The flt3 ligand is a growth factor that stimulates the proliferation of hematopoietic progenitor and stem cells. We established a sensitive enzyme-linked immunosorbent assay (ELISA) to measure the concentration of flt3 ligand in plasma or serum from normal individuals, as well as in patients with hematopoietic disorders. Concentrations of flt3 ligand in plasma or serum from normal individuals w...