Abstract
A minor hemoglobin (Hb) component with the electrophoretic properties of the δ-chain variant Hb A2′ was encountered in two unrelated families of Russian-Jewish ancestry. This minor component, designated Hb NYU, was shown to result from the substitution of lysine for asparagine at δ12. We have confirmed studies of others that hemoglobin A2′ isolated from the hemoglobin of some African subjects, results from the replacement of the normal glycine at δ16 by arginine. Thus for interpretations of the incidence of δ-chain variants in different populations, electrophoretic data are not sufficient.
In members of one of the families in the present study, the visual estimations of normal Hb A2 and of Hb NYU on starch-gel electrophoretic patterns suggested the presence of δ-thalassemia. In hemolysates of one of the heterozygotes for Hb NYU, hemoglobin A2 was not demonstrable with starch-gel electrophoretic methods but was readily recovered by column chromatography in approximately the amounts expected for δ-chain heterozygotes.
Full text
PDF





Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- BOYER S. H., RUCKNAGEL D. L., WEATHERALL D. J., WATSON-WILLIAMS E. J. FURTHER EVIDENCE OF LINKAGE BETWEEN THE BETA AND DELTA LOCI GOVERNING HUMAN HEMOGLOBIN AND THE POPULATION DYNAMICS OF LINKED GENES. Am J Hum Genet. 1963 Dec;15:438–448. [PMC free article] [PubMed] [Google Scholar]
- Ball E. W., Meynell M. J., Beale D., Kynoch P., Lehmann H., Stretton A. O. Haemoglobin A2: alpha-2-delta-2-16 glycine--arginine. Nature. 1966 Mar 19;209(5029):1217–1218. doi: 10.1038/2091217a0. [DOI] [PubMed] [Google Scholar]
- CHERNOFF A. I., PETIT N., NORTHROP J. THE AMINO ACID COMPOSITION OF HEMOGLOBIN. V. THE PREPARATION OF PURIFIED HEMOGLOBIN FRACTIONS BY CHROMATOGRAPHY ON CELLULOSE EXCHANGERS AND THEIR IDENTIFICATION BY STARCH GEL ELECTROPHORESIS USING TRIS-BORATE-EDTA BUFFER. Blood. 1965 May;25:646–661. [PubMed] [Google Scholar]
- Clegg J. B., Naughton M. A., Weatherball D. J. Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok). J Mol Biol. 1966 Aug;19(1):91–108. doi: 10.1016/s0022-2836(66)80052-9. [DOI] [PubMed] [Google Scholar]
- FESSAS P., STAMATOYANNOPOULOS G. Absence of haemoglobin A2 in an adult. Nature. 1962 Sep 22;195:1215–1216. doi: 10.1038/1951215a0. [DOI] [PubMed] [Google Scholar]
- INGRAM V. M. Gene evolution and the haemoglobins. Nature. 1961 Mar 4;189:704–708. doi: 10.1038/189704a0. [DOI] [PubMed] [Google Scholar]
- JONES R. T. STRUCTURAL STUDIES OF AMINOETHYLATED HEMOGLOBINS BY AUTOMATIC PEPTIDE CHROMATOGRAPHY. Cold Spring Harb Symp Quant Biol. 1964;29:297–308. doi: 10.1101/sqb.1964.029.01.032. [DOI] [PubMed] [Google Scholar]
- Jones R. T., Brimhall B., Huehns E. R., Barnicot N. A. Hemoglobin Sphakiá: a delta-chain variant of hemoglobin A2 from Crete. Science. 1966 Mar 18;151(3716):1406–1408. doi: 10.1126/science.151.3716.1406. [DOI] [PubMed] [Google Scholar]
- Jones R. T., Brimhall B., Huisman T. H. Structural characterization of two delta chain variants. Hemoglobin A'-2 (B2) and hemoglobin Flatbush. J Biol Chem. 1967 Nov 10;242(21):5141–5145. [PubMed] [Google Scholar]
- KUNKEL H. G., CEPPELLINI R., MULLER-EBERHARD U., WOLF J. Observations on the minor basic hemoglobin component in the blood of normal individuals and patients with thalassemia. J Clin Invest. 1957 Nov;36(11):1615–1625. doi: 10.1172/JCI103561. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Layzer R. B., Rowland L. P., Ranney H. M. Muscle phosphofructokinase deficiency. Arch Neurol. 1967 Nov;17(5):512–523. doi: 10.1001/archneur.1967.00470290066009. [DOI] [PubMed] [Google Scholar]
- RANNEY H. M., JACOBS A. S., BRADLEY T. B., Jr, CORDOVA F. A. A 'new' variant of haemoglobin A2 and its segregation in a family with haemoglobin S. Nature. 1963 Jan 12;197:164–166. doi: 10.1038/197164a0. [DOI] [PubMed] [Google Scholar]
- SANGER F., TUPPY H. The amino-acid sequence in the phenylalanyl chain of insulin. I. The identification of lower peptides from partial hydrolysates. Biochem J. 1951 Sep;49(4):463–481. doi: 10.1042/bj0490463. [DOI] [PMC free article] [PubMed] [Google Scholar]
- SMITHIES O. An improved procedure for starch-gel electrophoresis: further variations in the serum proteins of normal individuals. Biochem J. 1959 Mar;71(3):585–587. doi: 10.1042/bj0710585. [DOI] [PMC free article] [PubMed] [Google Scholar]
- de Jong W. W., Bernini L. F. Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain variant. Nature. 1968 Sep 28;219(5161):1360–1362. doi: 10.1038/2191360a0. [DOI] [PubMed] [Google Scholar]



