Hb Schlierbach or β108(G10)Asn→Ile: A new variant with low oxygen affinity detected in a Swiss family

Hemoglobin

Volumn 23, Issue 1, 1999, Pages 83-87

  Frischknecht, H ^a,c   Speich, R ^b   Bloch, K E ^b   Fehr, J ^b   Tuchschmid, P ^a   Jenni, R ^b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^c Universitats Kinderklinik   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; HEMOGLOBIN BETA CHAIN; HEMOGLOBIN SCHLIERBACH; HEMOGLOBIN VARIANT; ISOLEUCINE; UNCLASSIFIED DRUG; GLOBIN; OXYGEN;

ARTICLE; CYANOSIS; GLOBIN GENE; HEART MURMUR; HEMOGLOBIN DETERMINATION; HUMAN; OXYGEN AFFINITY; SYNCOPE; ADULT; CASE REPORT; FEMALE; GENETICS; MALE; METABOLISM; MUTATION; SWITZERLAND;

ADULT; FEMALE; GLOBINS; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; MUTATION; OXYGEN; SWITZERLAND;

EID: 0032587023     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.3109/03630269908996152     Document Type: Article

References (5)

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2. Basset, P., Beuzard, Y., Garel, M.C., and Rosa, J.: Isoelectric focusing of human hemoglobin: its application to screening, to the characterization of 70 variants, and to the study of modified fractions of normal hemoglobins. Blood, 51:971-982, 1978.
3. Kutlar, F., Kutlar A., and Huisman T. H. J.: Separation of normal and abnormal hemoglobin chains by reversed-phase high-performance liquid chromatography. J. Chromatogr. 357:147-153, 1986.
4. Moo-Penn, W.F., Wolff, J.A., Simon, G., Vacek, M., Jue, D., And Johnson, M.H.: Hemoglobin Presbyterian: β108 (G10) Asparagine →Lysine. A hemoglobin variant with low oxygen affinity. FEBS Lett., 92:53-56, 1978.
5. Imamura, T., Fujita, S., Ohta, Y., Hanada, M., and Yanese, T.: Hemoglobin Yoshizuka (G10 (108) β Asparagine→Aspartic acid: a new variant with a reduced oxygen affinity from a Japanese family. J. Clin. Invest., 48:2341-2348, 1969.