Hb Rio Claro [β34(B16)Val→Met]: A novel electrophoretically silent variant found in association with Hb Hasharon [α47(CE5)Asp→His] and α- thalassemia-2 (-α3.7)

Hemoglobin

Volumn 23, Issue 2, 1999, Pages 177-182

  Grignoli, C R E ^a,b   Wenning, M R S C ^c   Sonati, M F ^c   Kimura, E M ^c   Arruda, V R ^a   Saad, S T O ^a   Costa, Fernando F ^a,c  

^a Departments of Clinical Medicine   (Brazil)

^b Department of Pharmacology ^*  (Brazil)

^c UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN VARIANT;

ALPHA THALASSEMIA; AMINO ACID SUBSTITUTION; ARTICLE; BRAZIL; CASE REPORT; CHILD; DNA DETERMINATION; ELECTROPHORESIS; GENE MUTATION; HEMOGLOBIN DETERMINATION; HUMAN; MALE;

EID: 0032915047     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.3109/03630269908996162     Document Type: Article

References (10)

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2. Weatherall, D.J. and Clegg, J.B.: The Thalassaemia Syndromes, 3rd edition, Blackwell Scientific Publications, Oxford, 1981.
3. Pembrey, M.E., MacWade, P., and Weatherall, D.J.: Reliable routine estimation of small amounts of foetal haemoglobin by alkali denaturation. J. Clin. Pathol., 25:738-740, 1972.
4. Dacie, J.V. and Lewis, S.M.: Practical Haematology, 8th edition, Churchill Livingstone, London, 1995.
5. Aγ ratio of globin synthesis. Br. J. Haematol., 44:527-534, 1980.
6. 263(E7)His→Apγ by DNA analysis in a Brazilian family. Hemoglobin, 18:337-341, 1994.
7. Baysal, E. and Huisman, T.H.J.: Detection of common deletional α-thalassemia-2 determinants by PCR. Am. J. Hematol., 46:208-213, 1994.
8. 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.
9. Thein, S.L. and Hinton, J.: A single and rapid method of direct sequencing using Dynabeads. Br. J. Haematol., 79:113-115, 1991.
10. Blouquit, Y., Braconnier, F., Cohen-Solal, M., Földi, J., Arous, N., Ankri, A., Binet, J.L., and Rosa, J.: Hemoglobin Pitie-Salpetriere [β34(B16)Val→Phe]. A new high oxygen affinity variant associated with familial erythrocytosis. Biochim. Biophys. Acta, 624:473-478, 1980.