Idiopathic Acquired Refractory Sideroblastic Anemia: Banded Chromosome Analysis in Six Patients

Abstract

Chromosome analyses with banding were performed on six patients with idiopathic acquired refractory sideroblastic anemia (IARSA). One patient was found to have an extra chromosome No. 8, but had a normal level of red cell glutathione reductase. Bone marrow chromosomes from the other patients showed a normal karyotype. 28 patients with IARSA, including our 6 patients, have had chromosomal analyses. Two consistent chromosomal abnormalities have been described: a + 8 in three patients and a 20q- in three others. Despite the presence of chromosomal abnormalities in about one half of the patients, no patient has yet developed acute myelogenous leukemia. Several have died of hemochromatosis. The presence of a chromosomal abnormality appears to have no influence on the early course of IARSA.

Combined Phenotypic and Genotypic Analysis of Ringed Sideroblasts in Acquired Idiopathic Sideroblastic Anemia

“…Mosaic and non-mosaic chromosome abnormalities have previously been reported in AISA. Among these are trisomy 8 [3], monosomy 7 [18], Y chromosome aneuploidy [18], and structural aberrations including auto somal deletions of chromosomes 5 [12], 11 [8,11,12], and 20 [4] as well as X chromosome rearrangements [5]. The significance of non-constitutional chromo somal abnormalities in patients with hematological disease is dependent upon demonstration that the ab normal cell type is also the same population that is cy togenetically aberrant.…”

“…Acquired idiopathic sideroblastic anemia (AISA) is a dysmyelopoietic syndrome generally restricted to the elderly [1], In some cases, patients have also devel oped acute leukemia [1], Several reports have de scribed numerical and/or structural chromosome ab normalities in bone marrow specimens of patients during the course of this disease [2][3][4][5][6][7][8][9][10][11][12][13][14][15], However, a consistent chromosome abnormality either associated with AISA or its progression to acute leukemia has not been demonstrated. Since somatic aneuploidy is known to increase with age [16], the relationship be tween an abnormal chromosome constitution and AISA remains ambiguous.…”

Clustering of aberrations to specific chromosomes in human neoplasms

“…WAYNE et al 1979WEBER et al 1979 ZECH et al 1975 Japan KAMADA et al 1976 KANEKO and SAKURAI 1977 KANEKO et al 1978a. b KONDO and SASAKll979 NAGAO et al 1977OKADA et al 1977 SASAKI et al 1975 YAMADA and FURUSAWA 1976 USA ABE and SANDBERG 1979ABE et al 1980BENEDICT et al 1979BLOOMFIELD et al 1977BRYNES et al 1976ELFENBEIN et al 1978 ENGEL et al 1975cGOLOMB et al 1978HSU et al 1979HUANG et al 1979MACDOUGALL et al 1974 NORA OSHlMURA et al 1976ROWLEY 1976 ROWLEY and POTlER 1976ROWLEY et al 1977 SWEET et al 1979 TESIA et al 1978TRUJILLO et al 1979WHANG-PENG et al 1977 D. WURSTER-HILL pers. comm.…”