fanconi's anemia…

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formed elements of blood, anemia, fanconi's, fa, fanconi's anemia, inherited disease that primarily affects the bone marrow, resulting in decreased production of all types of blood cells, lack of white blood cells predisposes the patient to infections, lack of platelets, red blood cells, bleeding, fatigue, anemia, respectively, a broad variety of physical anomalies, fanconi's anemia is distinct from fanconi's syndrome, a rare kidney disorder, nutrients, lost, the urine, fanconi's anemia is inherited in an autosomal recessive fashion, one copy of an abnormal gene is passed on by each parent, occurs in all racial, ethnic groups, classically diagnosed between 2, 15 years of age, disease, a genetic defect that prevents cells from fixing damaged dna, removing toxic, oxygen free radicals that damage cells, patients suspected of having the disease, they have particular birth defects, develop decreased blood counts, set of physical abnormalities occur in 80%, the cases, skin pigment change, darkened areas, the skin, cafe-au-lait spots, vitiligo, short stature, upper limb anomalies, missing, extra, misshapen thumbs, underdeveloped, absent radius bone, in the forearm, anomalies, the hands, abnormalities, the ulna, small testicles, genital changes, skeletal anomalies, congenital hip abnormality, scoliosis, spinal, rib malformations, small head, eye/eyelid anomalies, kidney malformations, ear anomalies/deafness, hip, leg, toe abnormalities, gastrointestinal/cardiopulmonary malformations, potential symptoms, mental retardation, learning disability, low birth weight, failure to thrive, an affected sibling, common tests performed in evaluating fanconi's anemia, cbc, complete blood count, initially demonstrates low platelets, thrombocytopenia, low neutrophils, a type of white blood cell, finally low hemoglobin, anemia, develops over months to years, bone marrow biopsy, clastogenic stress-induced chromosomal breakage analysis on blood cells of patients, siblings to diagnose the disease, in this test, drugs, added to a blood sample to check, abnormal damage to chromosomes, hla tissue typing on the patient, family members, any, matching bone-marrow donors, hand x-ray, imaging studies, x-ray, ct scan, mri, to evaluate any anomalies, hearing test, developmental tests, ultrasound, the kidneys, amniocentesis, chorionic villous sampling has been used, prenatal diagnosis, hematological changes, mild to moderate, does not, require transfusions, a period of observation is currently recommended, frequent blood count checks, yearly bone marrow examinations, observations, the development of secondary malignancies, short term, growth factors, erythropoetin, g-csf, gm-csf, improve blood counts, growth factors, platelet stimulation, currently under investigation, bone marrow transplantation, cure the blood count problems associated, fanconi's anemia, a hla matched sibling, best donor source, umbilical cord blood cells, unrelated bone marrow, therapy is very effective, associated toxicities, has been improvement, in the care of fanconi patients, transplant, approximately a 70% success rate, patients fortunate enough to have a donor, though a successful bone marrow transplant, cure the bone marrow problems from fanconi's anemia, patients, at risk, cancers, must be regularly followed by a physician, below, prior to bone marrow transplantation, androgen therapy, oxymetholone, nandrolone decanoate, combined, low doses of steroids, hydrocortisone, prednisone, was the standard treatment, approach is currently used patient, does not have an appropriate bone marrow donor, 50-75% of patients initially respond to androgen therapy, all patients, rapidly relapse, the drug is stopped, drugs eventually, become ineffective, due to low blood counts, bleeding, infections, symptomatic anemia, fatigue, shortness of breath, chest pain, dizziness, transfusions, antibiotics, patients, low neutrophil counts, who develop a fever, intravenous antibiotics, most patients visit a hematologist, an endocrinologist, an ophthalmologist regularly, an orthopedist, gynecologist, nephrologist, reported survival of patients, fanconi's anemia is highly varied, ranging from 2 to 25 years, prognosis is especially poor, blood counts, survival has likely been improved by the development, refinement of therapies, bone marrow transplantation, bone marrow transplantation, restore blood counts, patients, fanconi's anemia remain predisposed to a variety of cancers, leukemia, myelodysplastic syndrome, liver cancer, women, fanconi's anemia who, become pregnant, watched by a doctor, they often, require transfusions throughout pregnancy, men, fanconi's anemia have decreased fertility, a small number have fathered children, fanconi's anemia, inherited disorder, prevent the disease short of genetic counseling, families known to be affected, complications, pneumococcal pneumonia, hepatitis, varicella infections, prevented by vaccination, additionally, patients should avoid known carcinogens, undergo regular cancer screening to detect malignancies early in course, should they arise.