can men have fanconi anemia?

Question

can men have this disease?pllzz help me with this..send me links here ,if possible.

Answer 1

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.

Contents [hide]
1 Causes
2 Prognosis
3 Hematological Abnormalities
3.1 Myelodysplastic Syndromes
3.2 Acute Myeloid Leukemia
3.3 Bone Marrow Failure
4 Molecular Basis of FA
4.1 Other FA protein interactions
5 See also
6 References
7 External links



[edit] Causes

FA is primarily an autosomal recessive genetic condition. There are at least 12 genes for which mutations are known to cause FA: A, B, C, D1, D2, E, F, G, I, J, L, and M. 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, spontaneous hemorrhage or bleeding. Bone marrow transplantation is the accepted treatment to repair the hematological problems associated with FA. However, even with a bone marrow transplant, patients face an increased risk of acquiring cancer and other serious health problems throughout their lifetime.


[edit] 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, such as microcephaly (small head).

Quality, comprehensive care is available for treating Fanconi anemia. Since research is on-going, there is hope that as knowledge gained through clinical trials and research grows, a cure may be developed.


[edit] Hematological Abnormalities
Clinically, haematological abnormalities are the most serious symptoms in FA. By the age of 40, 98% of FA will have developed some type of haematologic abnormality. It is interesting to note however the few cases in which older patients have died without ever developing them. Symptoms appear progressively and often lead to complete bone marrow (BM) failure. While at birth blood count is usually normal, macrocytosis/megaloblastic anemia, defined as unusually large red blood cells, is the first detected abnormality, often within the first decade of life (median age of onset is 7 years). Within the next 10 years, over 50% of patients presenting haematological abnormalities will have developed pancytopenia, defined as abnormalities in two or more blood cell lineage. Indeed, thrombocytopenia, defined as platelet count of less than 100x109/L precede neutropenia, defined as a neutrophil count below 1x109/L, both appearing with relative equal frequencies, causing hemorrhage and increases in recurrent infections. As FA is now known to affect the DNA repair and given the current knowledge about dynamic cell division in the BM, it is not surprising to find out that patients are more likely to develop BM failure, myelodysplastic syndromes(MDS) and acute myeloid leukemia (AML). The next sections will detail those pathologies.


[edit] Myelodysplastic Syndromes
MDS, formerly known as pre-leukemia, are a group of BM neoplastic diseases that share many of the morphologic features of AML with some important differences. First, the percentage of undifferentiated progenitor cells, blasts cells, is always less than 30% and there is considerably more dysplasia, defined as cytoplasmic and nuclear morphologic changes in erythroid, granulocytic and megakaryocytic precursors, than what is usually seen in cases of AML. These changes reflect delayed apoptosis or a failure of programmed cell death. When left untreated, MDS can lead to AML in about 30% of cases. Due the nature of the FA pathology, MDS diagnosis cannot be made solely through cytogenic analysis of the BM. Indeed, it is only when morphologic analysis of BM cells is performed, that a diagnosis of MDS can be ascertained. Upon examination, MDS-afflicted FA patients will show many clonal variations, appearing either prior or subsequent to the MDS. Furthermore, cells will show chromosomal aberrations, the most frequent being monosomy 7 and partial trisomies of chromosome 3q 15. Observation of monosomy 7 within the BM is well correlated with an increased risk of developing AML and with a very poor prognosis, death generally ensuing within 2 years 2.

ALSO.......................................................................................Fanconi Anemia Genetics
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Fanconi Anemia Research Fund
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Features contact information for the Fanconi Anemia Research Fund. ... growing communication support network of parents and adults with Fanconi Anemia. ...www.familyvillage.wisc.edu/lib_fanc.htm - 6k - Cached - More from this site
Fanconi anemia - Wikipedia, the free encyclopedia
Fanconi anemia (FA) is a rare genetic disease that affects children and adults ... testing is recommended for families that may be carriers of Fanconi anemia. ...en.wikipedia.org/wiki/Fanconi_anemia - 42k - Cached - More from this site
Fanconi Anemia in the Yahoo! Directory
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Fanconi-Anaemia
This is the First UK site dedicated to sufferers of FA. ... for the above Danial Ayling Fanconi Anaemia Trust - the address should be ...www.fanconi-anaemia.co.uk - 14k - Cached - More from this site
Fanconi Anemia - Information and Support Resources
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MedlinePlus Medical Encyclopedia: Fanconi's anemia
... can cure the blood count problems associated with Fanconi's anemia. ... there has been improvement in the care of Fanconi patients during the transplant. ...www.nlm.nih.gov/medlineplus/ency/article/000334.htm - 25k - Cached - More from this site
eMedicine - Anemia, Fanconi : Article by Blanche P Alter, MD, MPH
In 1927, Guido Fanconi first reported 3 brothers with ... delay, abnormal ears abnormal hearing, Estren Dameshek Fanconi anemia ...www.emedicine.com/ped/topic3022.htm - 102k - Cached - More from this site
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can you show me a picture of a punnett square for the genes of ... You can find an example on the following website. http://bsc2011-02.sp04.fsu.edu/BIO2.lec7.04.pdf
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Answer 2

Yes

Fanconi Anaemia is passed on by means of an autosomal recessive gene. Males and females can get it.

Answer 3

www.fanconi.org