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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

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