Hb Saint Etienne or Hb Istanbul [β92(F8)His → Gln] found in an Argentinean family

Hemoglobin

Volumn 24, Issue 2, 2000, Pages 149-152

  De Weinstein, B I ^a   Plaseska Karanfilska, D ^b   Efremov, Georgi D ^b  

^a Unidad Asistencial Dr César Milstein   (Argentina)

^b MACEDONIAN ACADEMY OF SCIENCES AND ARTS   (Macedonia)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN VARIANT;

ADULT; ARGENTINA; ARTICLE; CASE REPORT; CLINICAL MEDICINE; FAMILY STUDY; FEMALE; GENE MUTATION; HEMOGLOBIN ANALYSIS; HEMOGLOBINOPATHY; HUMAN;

EID: 0034042045     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.3109/03630260009003435     Document Type: Article

References (9)

1. Beuzard, Y., Courvalin, J.C., Cohen-Solal, M., Garel, M.C., Rosa, J., Brizard, C.P., and Gibaud, A.: Structural studies of Hemoglobin Saint Etienne Β92 (F8) His→Gln: a new abnormal hemoglobin with loss of Β proximal histidine and absence of heme on the Β chain. FEBS Lett., 27:76-80, 1972.
2. Aksoy, M., Erdem, S., Efremov, G.D., Wilson, J.B., Huisman, T.H.J., Schroeder, W.A., Shelton, J.R., Shelton, J.B., Ulutin, O.N., and Muftuglu, A.: Hemoglobin Istanbul: substitution of glutamine for histidine in a proximal histidine (F8 (92)Β). J. Clin. Invest., 51:2380-2387, 1972.
3. Testa, B.U., Beuzard, Y., Vainchenker, W., Goossens, M., Dubart, A., Monplaisir, N., Brizard, C.P., Papayannopoulou, T., and Rosa, J.: Elevated Hb F associated with an unstable hemoglobin, Hemoglobin Saint Etienne: Hb synthesis in blood BFUe in culturre. Blood, 54:334-343, 1979.
4. Huisman, T.H.J. and Jonxis, J.H.P.: The Hemoglobinopathies Techniques of Identification, Clinical and Biochemical Analysis, Vol. 6, Marcel Dekker, Inc., New York, NY, USA, 1977.
5. Efremov, G.D.: Starch gel electrophoresis. In: Clinical Laboratory Science, Section I: Hematology, edited by R.M. Schmidt, pages 97-104, CRC Press, Inc., Boca Raton, FL, USA, 1979.
6. 4 column. J. Liq. Chromatogr., 7:1969-1987, 1984.
7. 2. J. Lab. Clin. Med., 83:657-664, 1974.
8. Betke, K., Marti, H.R., and Schlicht, I.: Estimation of small percentage of foetal haemoglobin. Nature, 184:1877-1878, 1959.
9. Sanger, F., Nicklen, S., and Coulson, A.R.: DNA sequencing with chain terminating inhibitors. Proc. Natl. Acad. Sci. USA, 74:5463-5467, 1977.