Two new α chain variants: Hb Boghe [α58(E7)His→Gln, α2], a variant on the distal histidine, and Hb Charolles [α103(G10)His→Tyr, α1]

Hemoglobin

Volumn 23, Issue 4, 1999, Pages 345-352

  Lacan, P ^a   Francina, Alain ^a   Souillet, G ^b   Aubry, M ^a   Couprie, N ^c   Dementhon, L ^c   Becchi, M ^d  

^a EDOUARD HERRIOT HOSPITAL   (France)

^b HÔPITAL DEBROUSSE   (France)

^c LMM Laboratoire Marcel Merieux   (France)

^d CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HEMOGLOBIN VARIANT; RESTRICTION ENDONUCLEASE;

ADULT; ARTICLE; BONE MARROW TRANSPLANTATION; CASE REPORT; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; ENZYME ANALYSIS; FEMALE; GENE MUTATION; HEMOGLOBIN ANALYSIS; HEMOGLOBINOPATHY; HUMAN; INFANT; MALE; MALIGNANT HISTIOCYTOSIS; MICROCYTOSIS;

EID: 0032735462     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.3109/03630269909090750     Document Type: Article

References (15)

1. Gerald, P.S. and Efron, M.L.: Chemical studies of several varieties of Hb M. Proc. Natl. Acad. Sci. USA, 47:1758-1767, 1961.
2. Pulsinelli, P.D., Perutz, M.F., and Nagel, R.L.: Structure of Hemoglobin M Boston, a variant with a five-coordinated ferric heme. Proc. Natl. Acad. Sci. USA, 70:3870-3874, 1973.
3. Lacan, P., Kister, J., Francina, A., Souillet, G., Galactéros, F., Delaunay, J., and Wajcman, H.: Hemoglobin Debrousse (β96[FG3] Leu→Pro): a new unstable hemoglobin with twofold increased oxygen affinity. Am. J. Hematol., 51:276-281, 1996.
4. Morlé, F., Francina, A., Ducrocq, R., Wajcman, H., Gonnet, C., Philippe, N., Souillet, G., and Godet, J.: A new a chain variant Hb Sallanches [α2 104(G11)Cys→Tyr] associated with Hb H disease in one homozygous patient. Br. J. Haematol., 91:608-611, 1995.
5. Carrell, R.W. and Kay, R.: A simple method for the detection of unstable haemoglobins. Br. J. Haematol., 23:615-619, 1972.
6. Kister, J., Poyart, C., and Edelstein, S.J.: An expanded two-state allosteric model for interactions of human Hemoglobin A with nonsaturating concentrations of 2,3-diphosphoglycerate. J. Biol. Chem., 262:12085-12091, 1987.
7. Dodé, C., Rochette, J., and Krishnamoorthy, R.: Locus assignment of human α globin mutations by selective amplification and direct sequencing. Br. J. Haematol., 76:275-281, 1990.
8. anti 3.7 triplication by enzymatic amplification analysis. Br. J. Haematol., 83:105-111, 1993.
9. Rahbar, S. and Asmerom, Y.: Rapid HPLC techniques for globin chain synthesis studies. Hemoglobin, 13:475-487, 1989.
10. Witkowska, H.E., Bitsch, F., and Shackleton, C.H.L.: Expediting rare variant hemoglobin characterization by combined HPLC/electrospray mass spectrometry. Hemoglobin, 17:227-242, 1993.
11. Olson, J.S., Mathews, A.J., Rohlfs, R.J., Springer, B.A., Egeberg, K.D., Sligar, S.G., Tame, J., Renaud, J.P., and Nagai, K.: The role of the distal histidine in myoglobin and haemoglobin. Nature, 336:265-266, 1988.
12. Mathews, A.J., Rohlfs, R.J., Olson, J.S., Tame, J., Renaud, J.P., and Nagai, K.: The effects of E7 and E11 mutations on the kinetics of ligand binding to R state human hemoglobin. J. Biol. Chem., 264:16573-16583, 1989.
13. Sharma, V.S., John, M.E., and Waterman, M.R.: Functional studies on hemoglobin opossum. Conclusions drawn regarding the role of the distal histidine. J. Biol. Chem., 257: 11887-11892, 1982.
14. 2 by high performance liquid chromatography. Hemoglobin, 8:169-181, 1984.
15. Kattamis, A.C., Camaschella, C., Sivera, P., Surrey, S., and Fortina, P.: Human α-thalassemia syndromes: detection of molecular defects. Am. J. Hematol., 53:81-91, 1996.