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Fanconi Anemia Overview

Fanconi anemia is a highly debilitating genetic disorder that affects 1 in every 350,000 births and is essentially a blood disorder. Fanconi anemia is characterized by a defect in proteins that are supposed to repair broken DNA. The consequences of fanconi anemia include cancer, especially leukemia, and bone marrow failure, which is developed in about 90 percent of the cases by the time the affected individual reaches mid adulthood.

Physical Defects

There are numerous physical defects associated with the disorder, and some are present right at birth. For instance, fanconi anemia has been known to cause thumb defects such as missing or abnormally shaped thumbs. In some cases individual is born with three instead of two thumbs. Other bone anomalies are frequently observed and include arm, hand, leg, feet, toe, and hip bones that may not develop completely. Finally, spine problems are characteristic of persons suffering from fanconi anemia. Another form of birth defects has an impact on the vision and hearing. Eyes and ears could be misshapen therefore reducing the ability to see and hear. Many children suffering from the condition are born with severely reduced hearing abilities. Problems in the renal area are also frequent with fanconi anemia. The infant may not have both kidneys or the organs could be partially formed and with reduced functionality. Heart problems are also often observed, the most prominent one including a condition in which the wall that separates the right and left chambers has a hole inside or is disfigured. Lastly, skin anomalies exist in these patients and manifest themselves either as really dark or substantially lighter patches on the skin.

Developmental Defects

Other than causing physical health problems, fanconi anemia also produces an array of developmental difficulties. For example, infants born with the condition often have very low birth weight and grow far slower than the children from the general population. Also, the affected individuals grow up to be shorter than an average person with no developmental problems. Poor appetite further contributes to the growth problems, leaving the individual fairly smaller. Cognitive issues are also present and include various forms of mental retardation and learning disabilities. It should be noted that individuals who are only affected by learning disabilities may not have lower IQs than the general public.

Diagnosing Fanconi Anemia

Fanconi anemia is a congenital disorder present right at birth although the signs and symptoms may show later on. As the disorder is fairly rare regular screenings are not common practice when an infant is born. As a result, most patients are diagnosed in early to late childhood. One of the first steps in diagnosing the condition is considering medical history of both the person and the family. The direction of the diagnostic process depends to a large extent on the symptoms that the patient is exhibiting. In any case, genetic testing is the only certain form of assessing fanconi anemia as it produces the most reliable results. Geneticists are the specialists that diagnose genetic disorders, and they are also able to explain the pattern of inheritance to the parents of an affected child. Geneticists provide genetic counseling for couples that wish to have children but are concerned with passing on debilitating conditions to their offspring. Other experts that are involved include pediatricians that provide primary health care to children, as well as hematologists, who specialize in blood disorders. Further, as fanconi anemia is a genetic disorder that runs in families many couples are aware that they could carry defective genes even if they don’t have any symptoms themselves. In instances in which there haven’t been cases of the condition recently, the individuals may be completely oblivious to the fact that they carry genes that cause the disorder. Also, it is possible that persons are unaware of the existence of such a condition and do not know that it could be passed on from parents to children. In any case, family medical history plays a crucial part in correctly diagnosing fanoconi anemia, as some of the symptoms are comorbid with numerous other disorders. Information that medical care professionals would be interested in as far as the diseases that run in the family include blood problems, such as regular anemia, digestive tract issues that had to be resolved through surgery, or illnesses that affect the immune system. Individuals whose health is important include the parents of the patient and the parents' siblings. Also, the specialists could be interested in the appetite of the parents, their eating habits, as well as the drugs they are taking for treating possibly unrelated disorders. If there are instances on fanconi anemia in the family or if the answers to any of the questions point to the disorder, the medical care providers will ask that more tests be done. As previously mentioned, the symptoms could be signs of other disorders such as different, less debilitating forms of blood illnesses. Therefore, different forms of genetic testing are required. Some of the most commonly used types are the chromosome breakage test and cytometric flow analysis.

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