Abstract
Specific chromosomal aberrations have begun to be recognized in hematologic disorders since the development of the current banding techniques. Within the last two years, six patients with refractory anemia have been reported from Belgium with a partial deletion of the long arm of one no. 5 chromosome (5q-). We have identified 5q- in another patient with refractory anemia. The patient is a 57 year old female with anemia for 3 years and headache for several months. Physical examination was within normal limits. There was no hepatosplenomegaly. The blood count revealed: Hb of 8.7; WBC 8200 with normal differential; platelets 689,000. There was poikilocytosis, anisocytosis and basophilic stippling. MCH, MCV, MCHC, Fe, Folate, B12, haptoglobin and LAP were normal. Alkaline resistant Hb was 4.8%. The bone marrow aspirate showed normocellularity with a slight increase in megakaryocytes and erythroblasts, and 8% myeloblasts. Direct bone marrow preparation without PHA stimulation showed a 5q- in 60% of the cells analyzed. Banding studies showed that the partial deletion involves the terminal 2/3 of the long arm of one no. 5. del(5)(q14). Therefore, it appears that 5q- is specifically associated with refractory anemia. It remains to be seen whether patients with refractory anemia and Sq- tend to develop acute leukemia subsequently as has been implied recently in 5 patients with acute myelogenous leukemia.
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Kaffe, S., Hsu, L., Hoffman, R. et al. ASSOCIATION OF 5q- AND REFRACTORY ANEMIA. Pediatr Res 11, 458 (1977). https://doi.org/10.1203/00006450-197704000-00531
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DOI: https://doi.org/10.1203/00006450-197704000-00531