A New Hematologic Syndrome With a Distinct Karyotype: The 5 q - Chromosome

Five patients, four women and one man, age 32-80 yr, all whites, had refractory anemia with the same abnormal bone marrow karyotype, i.e., a partial deletion of the long arm of the No. 5 chromosome. The hematologic syndrome was practically the same in these five cases. Examination of the blood revea...

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Bibliographic Details
Published in:Blood 1975-10, Vol.46 (4), p.519-533
Main Authors: Sokal, G., Michaux, J.L., Berghe, H. Van Den, Cordier, A., Rodhain, J., Ferrant, A., Moriau, M., Bruyere, M. De, Sonnet, J.
Format: Article
Language:English
Subjects:
Adult
Aged
Anemia, Macrocytic - diagnosis
Blood Platelets - ultrastructure
Bone Marrow - pathology
Bone Marrow - ultrastructure
Cell Survival
Chromosome Aberrations - blood
Chromosome Disorders
Chromosomes, Human, 4-5
Erythrocytes - metabolism
Erythrocytes - ultrastructure
Erythropoiesis
Female
Fetal Hemoglobin - analysis
Granulocytes - pathology
Humans
Immunoglobulins - analysis
Karyotyping
Male
Middle Aged
Neutrophils - ultrastructure
Thalassemia - diagnosis
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Summary:Five patients, four women and one man, age 32-80 yr, all whites, had refractory anemia with the same abnormal bone marrow karyotype, i.e., a partial deletion of the long arm of the No. 5 chromosome. The hematologic syndrome was practically the same in these five cases. Examination of the blood revealed a moderate to severe, generally macrocytic anemia with slight leukopenia but normal or elevated platelet count. The bone marrow showed a depressed erythroid series and some abnormalities of the granulocytic series with an occasional excess of myeloblasts. Most of the megakaryocytes had a nonlobulated nucleus. These features, as well as cytogenetic, electron microscopic, isotopic, platelet function, and immunologic studies, are described in detail. The relationship of this newly established syndrome to other hematologic diseases is discussed. The syndrome constitutes another example of the association between a specific abnormal chromosome and a distinct hematologic disorder.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.V46.4.519.519