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Hb Frankfurt: Ein neues instabiles Hämoglobin

Hb frankfurt: A new unstable haemoglobin. II. Attempts to elucidate the structural aberrations

II. Versuche zur Aufklärung der Strukturanomalie

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Summary

A new abnormal heat labile haemoglobin causing marked Heinz body anaemia is reported. This haemoglobin, which was found in a German family, was shown to be abnormal in the non-alpha-polypeptide chain.

After separation and purification of the non-alpha polypeptide chain further investigations by thin layer “finger-printing” on silicagel starch and amino acid analysis have shown multiple aberration in the amino acid sequence of the abnormal polypeptide chain. Therefore, this abnormality cannot be caused by exchange of one amino acid. Most probably Hb Frankfurt is the result of a “crossover”—Lepore-Hb—or of a deletion (or insertion) of one or two nucleotides on the DNA or RNA chains, respectively.

Zusammenfassung

In einer deutschen Sippe wurde ein anomales Hämoglobin gefunden, das bei den Betroffenen eine Heinz-Körper-Anämie verursacht. Es handelt sich um ein hitzelabiles Hämoglobin.

Die Anomalie dieses instabilen Hb ist in der Nicht-α-Kette lokalisiert.

Die Polypeptidketten dieses Hb wurden mittels Ionenaustauscher-Chromatographie voneinander getrennt. Nach anschließender Reinigung durch Gel-Filtration wurde die Nicht-α-Kette mit Hilfe des Fingerprintverfahrens und der quantitativen Aminosäuren-Analyse weiter untersucht. Es fanden sich multiple Abweichungen in der Aminosäurenzusammensetzung. Danach kann die Anomalität nicht wie bei den bislang bekannt gewordenen anomalen Hämoglobinen durcheinen Aminosäurenaustausch verursacht sein.

Hb Frankfurt ist wahrscheinlich das Ergebnis eines „crossover“-Lepore-Hb- oder einer Deletion bzw. Insertion von ein oder zwei Nukleotiden auf der DNS- bzw. RNS-Kette.

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  1. Zentrum der Inneren Medizin, Abteilung für Hämatologie der J. W. Goethe-Universität Frankfurt a. M., Germany

    L. Nowicki & H. Martin

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Nowicki, L., Martin, H. Hb Frankfurt: Ein neues instabiles Hämoglobin. Klin Wochenschr 50, 454–461 (1972). https://doi.org/10.1007/BF01487600

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