[The Hbf in Fanconi's anemia (author's transl)].
The Authors studied the HbF in an 8-year-old-girl with Fanconi's anemia. At the admission the patient was anemic (Hb 7,1 g%), thrombocytopenic and leucopenic, HbF was 23% (1,8 g%) with heterocellular distribution. Globin chain synthesis in the peripheral blood displayed an alpha/non alpha ratio of. 1,05. gamma-Chain analysis was performed: at position 136 the gamma G/gamma A ratio was 3:1 at positions 75 threonine was present in the 30% of the chains. The girl was transfused and oximetholone therapy was started. After 2 months of treatment, an increase of the Hb levels was observed. This improvement lasted about 5 months. The amount of HbF remained constant throughout the management. It may be suggested that androgens work only on HbA synthesis while the HbF-producing-cells are irresponsive to the hormonal stimulation.
D000728:Androgens / Q000627:therapeutic use; D000741:Anemia, Aplastic / Q000097:blood*; D002648:Child; D005199:Fanconi Anemia / Q000097:blood* / Q000188:drug therapy / Q000235:genetics; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis*; D006801:Humans; D007137:Immunoglobulin alpha-Chains / Q000235:genetics; D007142:Immunoglobulin gamma-Chains / Q000235:genetics
D000728:Androgens; D007137:Immunoglobulin alpha-Chains; D007142:Immunoglobulin gamma-Chains; D005319:Fetal Hemoglobin
L'emoglobina fetale nella anemia di Fanconi.