An Autopsy Case of Sideroblastic Anemia Associated with Cytogenetic Aberrations (t (2q+; 5q-)) in Bone Marrow Cells

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  • KAMIHIRA Shimeru
    Department of Hematology, Atomic Disease Institute, Nagasaki University, School of Medicine
  • TOMONAGA Yu
    Department of Hematology, Atomic Disease Institute, Nagasaki University, School of Medicine
  • TAGAWA Masuko
    Department of Hematology, Atomic Disease Institute, Nagasaki University, School of Medicine
  • SADAMORI Naoki
    Department of Hematology, Atomic Disease Institute, Nagasaki University, School of Medicine
  • NONAKA Miki
    Department of Hematology, Atomic Disease Institute, Nagasaki University, School of Medicine
  • KINOSHITA Kenitchiro
    Department of Hematology, Atomic Disease Institute, Nagasaki University, School of Medicine
  • ITCHIMARU Mithito
    Department of Hematology, Atomic Disease Institute, Nagasaki University, School of Medicine
  • TOMONAGA Akimitsu
    Department of Hematology, Atomic Disease Institute, Nagasaki University, School of Medicine
  • KONO Sigeru
    Ist Department of Pathology, Nagasaki University, School of Medicine
  • MATSUO Takesi
    Ist Department of Pathology, Nagasaki University, School of Medicine

Bibliographic Information

Other Title
  • 染色体異常t (2q+; 5q-)を伴なう鉄芽球性貧血の1剖検例
  • センショクタイ イジョウ t 2q + 5q オ トモナウ テツガキュウセイ

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Abstract

A 67-year-old male suffered from malaria in 1944 and tuberculosis of the right kidney in 1963. The diseased kidney was later removed.<br>He had fatigue and dizziness two month before admission in August 1976 and marked anemia was pointed out. On admission on October 8, he had fatigue and slight fever but lymph nodes and spleen were not enlarged. Hematological investigation showed hemoglobin to be 4.0 g/dl, red blood cells 137×104/cmm, reticulocytes 0.3%, packed cell volume 12%, white blood cells 3150/cmm, platelet count 1.75×104/cmm. The red blood cells showed “dimorphism”. Bone marrow aspirats revealed hyperplasia of normoblasts with many ringed sideroblasts and maturation arrest of the granulocytic series. PAS reaction of the erythroblasts was weakly positive. Chromosome studies of the marrow cells by the Q-band method revealed hypodiploid karyotype (45, XY, ±[C, D, E, F, G], t (2q+; 5q-)).<br>The diagnosis of sideroblastic anemia (primary acquired?) in preleukemic stage was made on the basis of these hematological and cytogenetic findings. He was treated with pyridoxine and other vitamins, but they were not effective. One week before death, hematological findings changed to the overt leukemia, and he died of acute pneumonia 3.5 months after admission.<br>The autopsy showed hyperplasia of three series of bone marrow cells, especially abnormal myeloblasts.<br>The relationship between sideroblastic anemia with chromosome aberrations and the bone marrow and myeloproliferative syndrome was discussed.

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 18 (11), 1370-1377, 1977

    The Japanese Society of Hematology

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