An Autopsy Case of Sideroblastic Anemia with E 17 Chromosome Aberration (17 qi) in the Bone Marrow

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Other Title
  • E群染色体異常(E<sub>17</sub>qi)を有する鉄芽球性貧血の1剖検例
  • E群染色体異常(E17qi)を有する鉄芽球性貧血の1剖検例--本疫病の本態に関する考察及び本邦剖検例の検討
  • Eグン センショクタイ イジョウ E17qi オ ユウスル テツガキュウセイ
  • —本疾病の本態に関する考察及び本邦剖検例の検討—

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Description

A 66-year-old male was admitted on January, 1971 because of malaise, palpitation and precordial discomforts. About six months prior to admission, he was found to be anemic, but treatment with iron and vitamin B12 was ineffective and occasional blood transfusions were necessary. Hematologic studies on admission revealed hemoglobin to be 4.2 g/dl, red blood cells 149×104, reticulocytes 0.6%, packed cell volume 12%, white blood cells 3100/cmm, platelets 10.7×104. Bone marrow aspiration showed hypercellular specimen with maturation arrest of granuloid series and erythroblastic hyperplasia with many ringed sideroblasts. Chromosome studies of marrow cells by the direct method revealed pseudodiploid karyotype (46, XY, -17, +17 qi). The diagnosis of primary acquired sideroblastic anemia in preleukemic stage was made on the basis of these hematologic and cytogenetic findings. He was treated with pyridoxine, folic acid, vitamine B12 and anabolic steroids. However, his condition did not improve and he died of gastrointestinal bleeding 18 months after admission. The postmortem examination showed hyperplasia of bone marrow cells and myeloid metaplasia of liver, spleen, lung and other organs, but there was no evidence of leukemia. The authors summarized six autopsy cases with primary acquired sideroblastic anemia reported in Japan by the end of 1971 and discussed a possible nature of this disease.

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 16 (3), 325-331, 1975

    The Japanese Society of Hematology

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