A new type of hereditary persistence of fetal haemoglobin (HPFH): HPFH Tunisia β+ (+C-200)(G)γ

British Journal of Haematology

Volumn 95, Issue 1, 1996, Pages 67-72

  Pissard, Serge ^a   M'rad, Amel ^b   Beuzard, Yves ^a   Roméo, Paul Henri ^a  

^a HENRI MONDOR HOSPITAL   (France)

^b HABIB THAMEUR HOSPITAL   (Tunisia)

Author keywords

gene regulation; haemoglobinopathies; mutation; non deletional hereditary persistence of fetal haemoglobin (nd HPFH)

Indexed keywords

HEMOGLOBIN F;

ARTICLE; CASE REPORT; FEMALE; GENE MUTATION; HEMOGLOBINOPATHY; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL;

CONSANGUINITY; DNA TRANSPOSABLE ELEMENTS; FEMALE; FETAL HEMOGLOBIN; HEMOGLOBINOPATHIES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; PROMOTER REGIONS (GENETICS); SEQUENCE ANALYSIS, DNA;

EID: 0029819312     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. Bacolla, A., Ulrich, M.J., Larson, J.E., Ley, T.J. & Wells, R.D. (1995) An intramolecular triplex in the human γ globulin 5′-llanking region is altered by point mutations associated with hereditary persistance of fetal hemoglobin. Journal of Biological Chemistry, 270, 24556-24563.
2. Aγ hereditary persistence of fetal hemoglobin. Blood, 73, 1999-2002.
3. Aγ-globin gene promotor in Greek hereditary persistence of fetal haemoglobin. Nature, 313, 325-326.
4. Gγ genes. Proceedings of the National Academy of Sciences of the United States of America, 81, 4894-4898.
5. Aγ-globin gene. Blood, 76, 1896-1897.
6. Donald, J.A., Lammi, A. & Trent, R.J. (1988) Hemoglobin F production in heterocellular hereditary persistence of fetal hemoglobin and its linkage to the β globin gene complex. Human Genetics, 80, 69-74.
7. Fessas, P. & Stamatoyannopoulos, G. (1964) Hereditary persistence of fetal hemoglobin in Greece: a study and a comparison. Blood, 24, 223-240.
8. Aγ-globin gene in Greek hereditary persistence of fetal haemoglobin. Nature, 315, 323-324.
9. Giglioni, B., Casini, C., Mantovani, R., Merli, S., Comi, P., Ottolenghi, S., Saglio, G., Camaschella, C. & Mazza, U. (1984) A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and β-thalassemia. EMBO Journal, 3, 2641-2645.
10. Gγ globin production. Blood, 66, 785-787.
11. Gilman, J.G., Mishima, S., Wen, X.J., Kutlar, F. & Huisman, T.H.J. (1988a) Upstream promoter mutation associated with a modest elevation of fetal hemoglobin expression in human adults. Blood, 72, 78-81.
12. Aγ globin. Nucleic Acids Research, 16, 10635-10642.
13. Aγ gene. Experimental Hematology, 20, 320-323.
14. Gγ chain in the fetal hemoglobin of normal adults with specific haplotypes. Hemoglobin, 10, 185-204.
15. Gγ-globin gene expression and high HbF levels in β-thalassemia and sickle cell anemia patients. Proceedings of the National Academy of Sciences of the United States of America, 82, 2111-2114.
16. Nagel, R.L. & Ranney, H.M. (1990) Genetic epidemiology of structural mutations of the β-globin gene. Seminars in Hematology, 27, 342-359.
17. Orkin, S.H., Kazazian, H.H., Jr, Antonarakis, S.E., Goff, S.C., Boehm, C.D., Sexton, J.P., Waber, P.G. & Giardina, P.J.V. (1982) Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature, 296, 627-631.
18. Aγ-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with β-thalassemia. Human Genetics, 79, 13-17.
19. Sampietro, M., Thein, S.L., Contreras, M. & Pazmany, L. (1992) Variation of 11b F and F-cell number with the G-γ Xmn I (C-T) polymorphism in normal individuals. Blood, 79, 832-839.
20. Aγ) of hereditary persistence of fetal haemoglobin. British Journal of Haematology, 29, 137-147.
21. Stamatoyannopoulos, G., Nienhuis, A.W., Leder, P. & Majerus, P.W. (eds) (1987) The Molecular Basis of Blood Diseases, Saunders, Philadelphia.
22. Aγ globin gene. Blood, 73, 329-333.
23. λ HPFH. Blood, 71, 807-810.
24. Aγ globin gene. Blood, 68, 1389-1393.
25. Ulrich, M.J., Gray, W.J. & Ley, T.J. (1992) An intramolecular DNA triplex is disrupted by point mutations associated with hereditary persistance of fetal hemoglobin. Journal of Biological Chemistry, 267, 18649-18658.
26. Weatherall, D.J., Cartner, R., Clegg, J.B., Wood, W.G., Macrae, I.A. & Mackenzie, A. (1975) A form of hereditary persistence of fetal haemoglobin characterized by uneven cellular distribution of haemoglobin F and the production of haemoglobins A and A2 in homozygotes, British Journal of Haematology, 29, 205-220.