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Fanconi's anemia

Fanconi anemia (FA) is a rare genetic disease that affects children and adults from all ethnic backgrounds. Named for the Swiss pediatrician who originally described this disorder, Guido Fanconi, FA is characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemias, bone marrow failure (aplastic anemia), and cellular sensitivity to DNA damaging agents such as mitomycin C. more...

Fabry's disease
Factor V Leiden mutation
Factor VIII deficiency
Fallot tetralogy
Familial adenomatous...
Familial Mediterranean fever
Familial periodic paralysis
Familial polyposis
Fanconi syndrome
Fanconi's anemia
Farber's disease
Fatal familial insomnia
Fatty liver
Febrile seizure
Fibrodysplasia ossificans...
Fibrous dysplasia
Fissured tongue
Fitz-Hugh-Curtis syndrome
Flesh eating bacteria
Focal dystonia
Foix-Alajouanine syndrome
Follicular lymphoma
Fountain syndrome
Fragile X syndrome
Fraser syndrome
FRAXA syndrome
Friedreich's ataxia
Frontotemporal dementia
Fructose intolerance


FA is primarily a autosomal recessive genetic condition. There are at least 8 genes for which mutations in are known to cause FA: A, C, D1, D2, F, G, L, and B. FANCB is the one exception to FA being autosomal recessive, as this gene is on the X chromosome. For an autosomal recessive disorder, both parents must be carriers in order for a child to inherit the condition. If both parents are carriers, there is a 25% risk with each pregnancy for the mother to have an affected child. Approximately 1,000 persons worldwide presently suffer from the disease. The carrier frequency in the Ashkenazi Jewish population is about 1/90. Genetic counseling and genetic testing is recommended for families that may be carriers of Fanconi anemia.

Because of the failure of the components of the blood - white and red blood cells and platelets - the body cannot successfully combat infection, fatigue or spontaneous hemorrhage or bleeding. Bone marrow transplantation is the accepted treatment to repair the hematological problems associated with FA. Patients face an increased risk of acquiring cancer and other serious health problems throughout their lifetime.


Many patients eventually develop acute myelogenous leukemia (AML). Older patients are extremely likely to develop head and neck, esophageal, gastrointestinal, vulvar and anal cancers. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problem associated with FA still must have regular examinations to watch for signs of cancer. Many patients do not reach adulthood.

The overarching medical challenge that Fanconi patients face is a failure of their bone marrow to produce blood cells. In addition, Fanconi patients normally are born with a variety of birth defects. For instance, 90% of the Jewish children born with Fanconi's have no thumbs. A good number of Fanconi patients have kidney problems, trouble with their eyes, developmental retardation and other serious defects.


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Dr. J. K. Mahapatra
From Indian Journal of Occupational and Environmental Medicine, 5/1/05 by G. Kulkarni

Byline: G. Kulkarni

We regret to inform that Dr. J. K. Mahapatra [Figure 1] passed away on 22 February 2005 at Rourkela, He was Head of Occupational Health at SAIL Corporate office Ranchi from 1986 to 1998.He was the leader behind establishing OHS Services in SAIL. He has served IAOH with great dedication and passion as general secretary of Indian Association of Occupational Health (1983-1986) and subsequently as national president of IAOH in the year 1992. Dr. Mahapatra, a cultured man with great compassion for workforce, who deeply cared for preventing occupational ill-health. He was a true professional and role model for many of us. Our condolences to Mrs. Jyoti Mahapatra and family members who have been a source of great strength and support during his career and the latter days of his illness.


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