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Osservazioni sulla distribuzione delle anomalie mediterranea e drepanocitica in tre famiglie calabresi 1

  • D. Gigante (a1), U. Santagati (a1) and R. Ghione (a1)

Summary

Three families from Calabria, whose members were related to each other have been studied. In the first there were both the thalas-semic and the drepanocytic traits separately in its members; in the second the thalassemic trait and in the third the drepanocytic trait. From the marriage of individuals with thalassemic trait from the first and the second family a child was born with Cooley's disease, from the marriage of drepanocytic individuals from the first and the third family a drepanocytic girl was born.

The clinical, hematologic and genetic characteristics of the 19 members of these families are reported and the distribution of the pathologic features is discussed.

Riassunto

Sono state studiate tre famiglie calabresi, fra loro imparentate, nella prima delle quali era presente l'anomalia mediterranea e drepanocitica, separatamente nei suoi membri, nella seconda l'anomalia mediterranea e nella terza quella drepanocitica.

Dall'unione di soggetti con anomalia mediterranea della prima e della seconda famiglia è derivato un caso di malattia di Cooley; da quella di soggetti falcemici della prima e della terza famiglia si è avuta una malata di anemia drepanocitica.

Vengono riferite le particolarità cliniche, ematologiche e genetiche dei 19 componenti di queste famiglie e ne è discussa la distribuzione dei caratteri patologici.

RÉSUMÉ

On a étudié trois familles de la Calabre dont les membres étaient apparentés entre eux. Dans la première il y avait eu la tare thalassémique et la drépanocytaire séparément dans ses membres; dans la deuxième la tare thalassémique et dans la troisième, la drépanocytaire. De l'union d'individus avec tare thalassémique de la première et de la deuxième famille est issu un individu avec maladie de Cooley; de celle de sujets avec sicklémie de la première et de la troisième famille on a eu une malade d'anémie drépanocytaire.

L'Auteur rapporte les particularités cliniques, hématologiques et génétiques des 19 membres de ces familles et en discute la distribution des caractères pathologiques.

ZUSAMMENFASSUNG

In diesem Werke werden drei kalabrische Familien untersucht, die unter sich verwandt sind. Die erste ist mit Thalassaemie und drepanozitischer Anaemie behaftet, die sich in den Familienmitgliedern getrennt finden. Die zweite leidet an Thalassaemie und die dritte an drepanozitische Anaemie.

Aus der Verbindung, der mit Thalassaemie behafteten Mitgliedern der ersten und zweiten Familie, entstand ein Fall von Cooley-Krankheit; aus derjenigen von drepanozitischen Mitgliedern der ersten und dritten Familie ging eine Kranke mit drepanozitischer Anaemie hervor. Der Verfasser gibt die klinischen, haema-tologischen und genetischen Einzelheiten der 19 Familienmitglieder an und bespricht die Verteilung der pathologischen Einzelheiten.

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1

Il lavoro è dovuto in parti eguali ai tre Autori.

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References

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Osservazioni sulla distribuzione delle anomalie mediterranea e drepanocitica in tre famiglie calabresi 1

  • D. Gigante (a1), U. Santagati (a1) and R. Ghione (a1)

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