Fanconi anemia is an inherited disorder that mainly affects the bone marrow.It leads to decreased production of all types of blood cells.Fanconi anemia (FA) is a genetic disorder that eventually leads to bone marrow failure.The bone marrow is responsible for making 3 different types of blood cells in the body.These are red blood cells, which bring oxygen to the tissues and organs, white blood cells, which fight infections, and platelets, which promote blood clotting to stop bleeding.It is normal for the blood cells to die.If the bone marrow is not replacing dead blood cells, the person will have bone marrow failureFA is a very severe disease and has permanent complications, which may be:1.Anemia2.Birth Defects of bone, eye, ear, skin, kidney and heart3.Cancer especially leukemia and mouth cancersFA is a recessive gene disorder.This indicates the parents both have to have the defective FA gene for a person to develop FAAbnormalities in those 19 genes are responsible for 95 % of FA cases.It is the most frequent of a group of relatively rare diseases called the inherited bone marrow failure syndromes (IBMFS).The disorder is most often diagnosed in children between 2 and 15 years old.When a person does not have a sufficient number of blood cells he or she will begin to experience:1. Aplastic AnemiaThe symptoms of anemia are:a. Dizziness,b. Headaches, andc. An inability to keep the hands and feet warm.2. Birth DefectsCertain types of birth defects will indicate that the infant has FA, such as:a. Bone defects, especially involving the thumbs and armsb. Eye and ear defectsc. Skin discolorationd. Kidney problemse. Congenital heart defects3. Developmental ProblemsDevelopmental problems can be:a. Low birth weightb. Poor appetitec. Delayed growthd. A smaller-than-normal heighte. A smaller-than-normal head sizef. Intellectual disabilitySymptoms in AdultsAdults who are diagnosed later in life will normally have a completely different set of symptoms.The symptoms in adults will normally involve the sexual organs or the reproductive system.The symptoms in women are:1. Periods that occur later than normal2. Fertility issues3. Frequent miscarriages4. Early menopause5. Smaller-than-normal genitalsMen with FA may have:1. Fertility issues and2. Smaller-than-normal genitals.People with Fanconi anemia have less numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot).Not enough white blood cells can result in infections.A lack of red blood (anemia) cells may result in fatigue.The lesser amount of platelets may lead to excessive bleeding.Women who have a family history of FA should have genetic testing of their unborn baby.This can be done through amniocentesis and chorionic villus sampling (CVS).Chromosome breakage studies can also be done using CVS.If the child tests positive for the FA gene, they will be monitored for other signs of the disorder.Bone marrow biopsy or aspiration shows progressively hypo-cellular marrow with loss of myeloid and erythroid precursors and megakaryocytes, ultimately becoming typical of aplastic anemiaFull blood count (FBC) may show macrocytosis with mild anemia through to pan-cytopenia.Initial presentation may be with isolated thrombocytopenia or leucopeniaThe symptoms of FA can be treated but there is no cure for FA.People with mild to moderate blood cell changes do not need a transfusionMedicines called growth factors (such as erythropoietin, G-CSF, and GM-CSF) can improve blood countsA bone marrow transplant can cure blood count of FAMost people respond to hormone therapy.TABLE OF CONTENTIntroductionChapter 1 Fanconi AnemiaChapter 2 CausesChapter 3 SymptomsChapter 4 DiagnosisChapter 5 TreatmentChapter 6 PrognosisChapter 7...