Archive for the ‘Fanconi Anemia’ Category
Treatment of Fanconi Anemia
Symptomatic management of pancytopenia in children with Fanconi anemia is similar to that used in children with acquired aplastic anemia and includes transfusion of red cells and platelets when they are listed.
In studying the effect of treatment with androgens has been observed that over 75% of patients have some degree of early hematologic improvement: increasing the number of reticulocytes followed by increased hemoglobin levels by one or two months and happens also rise somewhat later the numbers of leukocytes and platelets. However, it is very difficult to maintain a sustained response to treatment. This explains the paucity of data that indicate the maintenance of remission after stopping the drug. Read the rest of this entry »
Fanconi Anemia: Laboratory Findings
Typically the bone marrow examination shows depression of the three cell lines, which correlates with the finding of peripheral pancytopenia. Some children with Fanconi anemia may occur at the beginning hypercellularity of bone marrow hyperplasia as a result of RBC is making Tadio hypocellular in advanced illness. The anemia of chronic aregenerative usually normocytic or slightly macrocytic, the percentage of reticulocytes is commonly low. The leukocyte differential count usually reveals granulocytopenia (especially neutropenia) with relative lymphocytosis.
Estimation of fetal hemoglobin may be of value suggesting the diagnosis of Fanconi anemia. However, it should be noted that also can be high (although to a lesser extent) in children with acquired aplastic bone marrow, thalassemia, hereditary persistence of fetal hemoglobin and juvenile chronic myeloid leukemia. Read the rest of this entry »
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Fanconi Anemia: Cinical Manifestations
Fanconi anemia is an inherited autosomal recessive, characterized by the gradual development of pancytopenia in childhood.
It is frequently associated with various congenital anomalies including mainly skeletal abnormalities, heart and kidneys, central nervous system malformations with mental retardation and abnormal skin pigmentation.
It was described by Fanconi in 1927 and in 1931 suggested that the term Naegeli “Fanconi Anemia” is used for patients with aplastic anemia with congenital malformations and family. Read the rest of this entry »