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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...

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Causes

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.

Prognosis

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.

References

1. Cohen EN, Brown BW, Bruce DL. Occupational disease among operation room personnel - A National Study. Anesthesiology 1974;41:321-40.

2. Perry P, Evans HJ. Cytological detection of mutagen-carcinogen exposure by sister-chromatid exchange. Nature 1975;258:121-5.

3. Tucker JD, Auletta A, Cimino MC, Dearfield KL, Jacobson-Kram D, Tice RR, et al . Sister-chromatid Exchange: Second report of the Gene-Tox program. Mutat Res 1993;297:101-80.

4. Wulf HC. Monitoring of genotoxic exposure of humans by the sister-chromatid exchange test. Danish Med Bull 1990;37:132-43.

5. Howell RT. Sister-chromatid exchange evaluation as an aid to the diagnosis and exclusion of Fanconi's anemia by induced chromosome damage analysis. J Med Gene 1991;28:468-71.

6. Schvartzman JB, Gutierrez C. The relationship between cell time available for repair and the effectiveness of a damaging treatment in provoking the formation of sister-chromatid exchanges. Mutat Res 1980;72:483-9.

7. Tice R, Chaillet J, Schneider EL . Evidence derived from sister-chromatid exchanges of restricted rejoining of chromosome sub-units. Nature 1975;256:642-4.

8. Sasaki MS. Sister-chromatid exchange and chromatid exchange as possible manifestation of different repair processes. Nature 1977;269:623-5.

9. Arakaki DT, Sparkes RS. Microtechnique for culturing leucocytes from whole blood. Cytogenetics 1963;2:57-60.

10. Perry P, Wolff S. New Giemsa method for the differential staining of sister-chromatids. Nature 1974;251:156-8.

11. Gray WM. Occupational exposure to nitrous oxide in 4 hospitals. Anesthesia 1989;44:511-4.

12. Husum B, Wulf HC. Sister chromatid exchanges in lymphocytes of operating room personnel. Acta Anesthesia Scandinavia 1980;24:22-4.

13. Holmberg K, Lambert B, Lindsten J, Soderhall S. DNA and chromosomal alterations in lymphocytes on operating room personnel, and in patients before and after inhalation anesthesia. Acta Anesthesia Scandinavia 1982;26:531-9.

14. Lamberti L, Bigatti P, Ardito G, Armellino F. Chromosome analysis in operating room personnel. Mutagenesis 1989;4:95-7.

15. Bozkurt G, Memis D, Karabogaz G, Pamukcu Z, Ture M, Karamanlioglu B, et al . Genotoxicity of waste anesthetic gases. Anaesth Intensive Care 2002;30:597-602.

16. Sardas S, Cuhruk H, Karakaya AE, Atakurt Y. Sister-chromatid exchanges in operating room personnel. Mutat Res 1992;279:117-20.

17. Karelova J, Jablonicka A, Gavora J, Hano L. Chromosome and sister-chromatid exchange analysis in peripheral lymphocytes and mutagenicity of urine in anesthesiology personnel. Int Arch Occup Environ Health 1992;64:303-6.

18. Bilban M, Jakopin CB, Ogrine D. Cytogenetic tests performed on operating room personnel (the use of anesthetic gases). Int Arch Occup Environ Health 2005;78:60-4.

19. Natarajan D, Santhiya ST. Cytogenetic damage in operation theater personnel. Anesthesia 1990;45:574-7.

20. Schvartzman JB, Tice RR. In : Sister-Chromatid Exchange . 5-Bromodeoxyuridine and its role in the production of sister-chromatid exchanges. Alan R Liss Inc; 1982. p.

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