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Constitutional Pathology of Erythropoiesis

Published online by Cambridge University Press:  01 August 2014

Julius Bauer
Julius Bauer*
Affiliation:
College of Medical Evangelists, Los Angeles, California

Summary

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The concept and definition of constitutional pathology. Genetic erythropathies such as constitutional spherocytosis, leptocytosis, ovalocytosis and drepanocytosis and their relation to hemolytic clinical syndromes are discussed. Sickle cell trait, sickle cell anemia, and sickle cell disease have to be distinguished as clinical manifestations of drepanocytosis. They represent a special variety of a « status degenerativus » (Bauer). Four genetic types of human hemoglobin have so far been identified that differ from each other by their molecular architecture and chemical reactivity. Several constitutional abnormalities of erythropoiesis other than those just mentioned are discussed: a hereditary defect in hemoglobin synthesis; erythroid multinuclearity; acanthocytosis; Fanconi's syndrome of hypoplasia and abiotrophy of the bone marrow as another variety of a status degenerativus.

Sommario

SOMMARIO

Concetto e definizione della patologia costituzionale. Vengono discusse le eritropatie genetiche quali la sferocitosi, la leptocitosi, l'ovalocitosi e la drepanocitosi ed i loro rapporti con le sindromi cliniche emolitiche. L'anomalia falciforme, l'anemia falciforme e la malattia falciforme devono essere distinte come manifestazioni cliniche della drepanocitosi. Esse rappresentano una speciale varietà dello « stato degenerativo » (Bauer). Quattro tipi di emoglobina umana sono stati finora identificati dal punto di vista genetico, i quali si distinguono per l'architettura molecolare e per la reattività chimica.

Parecchie altre anomalie costituzionali dell'eritropoiesi vengono discusse: le sintesi dell'emoglobina ereditariamente difettosa, la « erythroid multinuclearity », l'acantocitosi, la sindrome d'ipoplasia e di abiotrofia del midollo osseo di Fanconi che viene considerata come un'altra varietà dello « stato degenerativo ».

Résumé

Résumé

L'idée et la définition de la pathologie constitutionnelle. Les érythropathies génétiques comme sphérocytose, leptocytose, ovalocytose et drépranocytose constitutionnelles et leur relation avec des syndrômes hémolytiques sont discutées. L'anomalie en faucille, l'anémie en faucille et la maladie en faucille doivent être distinguées comme manifestations cliniques de la drépanocytose. Elles représentent une variété spéciale de « l'état dégénératif » (Bauer). Quatre types génétiques d'hémoglobine humaine ont été identifiés jusque maintenant qui se distinguent par leur architecture moléculaire et par leur réactivité chimique. Plusieurs autres anomalies constitutionnelles de l'érythropoièse sont discutées: synthèse d'hémoglobine défectueuse héréditaire; « erythroid multinuclearity »; acanthocytose; Fanconi's syndrome d'hypoplasie et d'abiotrophie de la moelle osseuse comme une autre variété de l'état dégénératif.

Zusammenfassung

Zusammenfassung

Begriffsbestimmung und Définition der Kontsitutionspathologie. Genetische Erythropathien wie Spherocytosis, Leptocytosis, Ovalocytosis und Drepanocytosis und ihre Beziehung zu hämolytischen klinischen Syndromen werden besprochen. « Sickle cell trait », Sichelzellanämie und Sichelzellkrankheit müssen unterschieden werden als klinische Aeusserungen der Drepanocytose. Sie stellen eine spezielle Varietät des « Status degenerativus » (Bauer) dar. Bisher wurden vier genetische Typen menschlichen Hämoglobins identifiziert, die sich voneinander durch die molekulare Architektur und chemische Reaktivität unterscheiden. Mehrere andere konstitutionelle Anomalien der Erythropoiese ausser den eben erwähnten werden besprochen: hereditärer Defekt der Hämoglobinsynthese; Mehrkernigkeit der Erythroblasten; Akanthocytose; Fanconi's Syndrom einer Hypoplasie und Abiotrophie des Knochenmarks als eine andere Varietät des Status degenerativus.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 2 , Issue 1 , January 1952 , pp. 1 - 10
Copyright
Copyright © The International Society for Twin Studies 1952

References

Abel, M. S., and Brown, Ch. R., Sickle cell disease with severe hematuria simulating renal neoplasm. J. A. M. A. 136: 624. 1948.Google Scholar
Bauer, J., Konstitutionelle Disposition zu inneren Krankheiten, 1917, Berlin, Springer. 3rd. ed. 1924.Google Scholar
Bauer, J., Sickle cell disease. Arch. Surg. 41: 1344. 1940.CrossRefGoogle Scholar
Bauer, J., Constitution and Disease, Grune & Stratton, New York 1942, 2nd. ed. 1945.Google Scholar
Bauer, J., Sickle cell disease. Acta Med. Scand. 129: 1. 1947.Google Scholar
Bauer, J., and Fisher, L. J., Sickle cell disease with special regard to its non-anemic variety. Arch. Surg. 47: 553, 1943.CrossRefGoogle Scholar
Chernoff, A. I., and Josephson, A. M., Acute erythroblastopenia in sickle cell anemia and infectious mononucleosis. Am. J. Dis. Childr. 82: 09 310. 1951.Google ScholarPubMed
Choremis, C., Zervos, N., Constantinides, V., and Zannos, L., Sickle cell anemia in Greece. Lancet 1951, 05 26. 1147.CrossRefGoogle ScholarPubMed
Coodley, E. L., and Kert, M. J., Sickle cell disease simulating advanced rheumatoid arthritis. Calif. Med. 70: 459. 1949.Google Scholar
Dacie, J. V., and Gilpin, A., Refractory anemia (Fanconi type). Its incidence in three members of one family, with in one case a relationship to chronic haemolytic anaemia with nocturnal haemoglobinuria (Marchiafava-Micheli disease or « nocturnal haemoglobinuria »). Arch. Dis. Childhood 19: 155. 1944.CrossRefGoogle Scholar
Dameshek, W., Familial Mediterranean target-oval cell syndromes. Am. J. Med. Sci. 205: 634, 1943.CrossRefGoogle Scholar
Estren, S., Suess, J. F., and Dameshek, W., Congenital hypoplastic anemia associated with multiple developmental defects (Fanconi syndrome). Blood 2: 85. 1947.CrossRefGoogle ScholarPubMed
Gedda, L., Genetica, medicina e costituzione. Acta Geneticae Medicae et Gemellologiae 1: 01 1. 1952.Google Scholar
Goodwin, W. E., Alston, E. F., and Semans, J. H., Hematuria and sickle cell disease: Unexplained, gross unilateral, renal hematuria in Negroes, coincident with the blood sickling trait. J. Urol. 63: 01. 79. 1950.Google Scholar
Granick, S., Chemistry and functioning of mammalian erythrocyte. Blood 4: 404. 1949.Google Scholar
Green, Th. W., and Conley, C. L., Occurrence of symptoms of sickle cell disease in the absence of persistent anemia. Ann. Int. Med. 34: 04. 849. 1951.Google Scholar
Grueneberg, H., Animal Genetics and Medicine. Hamish Hamilton. London. 1947.Google Scholar
Gulliver, , cited after Singer and Undritz.Google Scholar
Harris, J. W., Studies on the destruction of red blood cells. VIII. Molecular orientation in sickle cell hemoglobin solutions. Proceed. Soc. Exp. Biology a. Med. 75: 197. 1950.Google Scholar
Itano, H. A., and Neel, J. V., A new inherited abnormality of human hemoglobin. Proceed. Nat Acad. Sci. 36: 11 613. 1950.CrossRefGoogle ScholarPubMed
Kaplan, E., and Zuelzer, W. W., Erythrocyte surival studies in childhood. II. Studies in Mediterranean anemia. J. Labor a. Clin. Med. 36: 10 517. 1950.Google Scholar
Kaplan, E., Zuelzer, W. W., and Neel, J. V., A new inherited abnormality of hemoglobin and its interaction with sickle cell hemoglobin. Blood 6: 12 1240. 1951.CrossRefGoogle ScholarPubMed
Levy, W., Aplastic anemia in siblings with multiple congenital anomalies (the Fanconi type). J. Pediatr. 40: 01 24. 1952.CrossRefGoogle ScholarPubMed
Mills, H., Huff, R. L., Krupp, M. A., and Garcia, J. F., Hemolytic anemia secondary to a familial (hereditary) defect in hemoglobin synthesis. Arch. Int. Med. 86: 11 711. 1950.Google Scholar
Neel, J. V., The inheritance of the sickling phenomenon, with particular reference to sickle cell disease. Blood 6: 05 389. 1951.CrossRefGoogle ScholarPubMed
O'Roke, E. C., Sickle cell anemia in deer. Proc. Soc. Exper. Biol. a. Med. 34: 738. 1936.Google Scholar
Owren, P. A., Congenital hemolytic jaundice. The pathogenesis of the « hemolytic crisis ». Blood 3: 231. 1948.Google Scholar
Pauling, L., Itano, H. A., Singer, S. J., and Wells, I. C., Sickle cell anemia, molecular disease. Science. 110: 543. 1949.Google Scholar
Perutz, M. F., and Mitchison, J. M., State of haemoglobin in sickle cell anemia. Nature 166: 677. 1950.Google Scholar
Ponder, E., Hemolysis and related phenomena. New York, Grune & Stratton, 1948.Google Scholar
Pratt-Thomas, H. R., and Switzer, P. K., Sicklemia: Its pathological and clinical significance. South Med. J. 42: 05 376. 1949.CrossRefGoogle ScholarPubMed
Silver, H. K., Blair, W. C., and Kempe, C. H., Fanconi syndrome. Multiple congenital anomalies with hypoplastic anemia. Am. J. Dis. Childr. 83: 01 14. 1952.Google ScholarPubMed
Singer, K., The pathogenesis of sickle anemia. Am. J. Clin. Pathol. 21: 09 858. 1951.CrossRefGoogle Scholar
Singer, K., Chernoff, A. I., and Singer, L., Studies on abnormal hemoglobins. Blood 6: 05 413. 1951.Google Scholar
Singer, K., Fisher, B., and Perlstein, M. A., Acanthrocytosis. A genetic erythrocytic malformation. Blood 7: 577. 1952.CrossRefGoogle ScholarPubMed
Thompson, R. K., Wagner, J. A., and MacLeod, Ch. M., Sickle cell disease: Report of a case with cerebral manifestations in the absence of anemia. Ann. int. med. 29: 921. 1948.Google Scholar
Undritz, E., Anomaiies Héréditaires des Cellules du Sang. Revue d'Hématologie 5: 644. 1950.Google Scholar
Weiss, W., and Stecher, W., Tuberculosis and the sickle-cell trait. Arch. int. med. 89: 07. 914. 1952.Google Scholar
Wolff, J. A., and Von Hofe, F. H., Familial erythroid multinuclearity. Blood 6, 12. 1274. 1951.CrossRefGoogle ScholarPubMed
Wyandt, H., Bancroft, P. M., and Winship, T. D., Elliptic erythrocytes in man. Arch. int. med. 68: 1043. 1941.Google Scholar