Fanconi anemia is a rare inherited disorder mainly affecting the bone marrow and resulting in reduced production of all types of blood cells. The common symptoms are growth deficiency, skeletal abnormalities, abnormal skin pigmentation, poor appetite, and mental retardation. Treatment may involve androgen therapy, blood transfusion, and bone marrow stem cell transplant.
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Chromosome break study is normal. Is Fanconi anemia absent?
Query: Hello doctor,The findings during chromosome breakage study for Fanconi anemia are not in favor of chromosomal breakage syndrome. Is the patient totally free from the Fanconi anemia? Read Full »
Answer: Hello, Welcome to icliniq.com. In Fanconi anemia, there is a presence of birth defects along with severed degree anemia. If such a finding is present, then further work out has to be done for that. I have checked your report (attachment removed to protect patient identity). It is not showing any c... Read Full »
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