Molecular spectrum of α-thalassemia in Tunisia: Epidemiology and detection at birth

Hemoglobin

Volumn 26, Issue 4, 2002, Pages 353-362

  Zorai, Amine ^a   Harteveld, Cornelis L ^b   Bakir, Achech ^a,c   Van Delft, Peter ^b   Falfoul, Abdelaziz ^d   Dellagi, Koussay ^a   Abbes, Salem ^a   Giordano, Piero C ^b  

^a PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Obstetrical Gynecology Service   (Tunisia)

^d CHU Maamouri   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN VARIANT; NUCLEOTIDE; DNA; HEMOGLOBIN BART'S;

5' UNTRANSLATED REGION; ALLELE; ALPHA THALASSEMIA; ARTICLE; BLOOD SAMPLING; DNA DETERMINATION; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; GEOGRAPHIC DISTRIBUTION; HUMAN; INTRON; MEASUREMENT; MICROCYTOSIS; MOLECULAR BIOLOGY; NEWBORN SCREENING; POLYADENYLATION; POPULATION RESEARCH; TUNISIA; UMBILICAL CORD BLOOD; BLOOD; CHEMISTRY; CYTOLOGY; ERYTHROCYTE DISORDER; FETUS BLOOD; GENETIC SCREENING; GENETICS; GENOTYPE; HETEROZYGOTE DETECTION; MEAN CORPUSCULAR VOLUME; METABOLISM; METHODOLOGY; NEWBORN;

ALPHA-THALASSEMIA; DNA; ERYTHROCYTE INDICES; ERYTHROCYTES, ABNORMAL; FETAL BLOOD; GENETIC SCREENING; GENOTYPE; HEMOGLOBINS, ABNORMAL; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; POLYMORPHISM, GENETIC; TUNISIA;

EID: 1842867709     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-120016372     Document Type: Article

References (28)

1. Breuning, M.H.; Madan, K.; Verjaal, M.; Wijnen, J.T.; Meera, K.P.; Pearson, P.L.: Human α-globin maps to pter-p13.3 in chromosome 16 distal to PGP. Hum. Genet. 1987, 76, 287-289.
2. Hsu, S.L.; Marks, J.; Shaw, J.P.; Tam, M.; Higgs, D.R.; Shen, C.C.; Shen, C.K. Structure and expression of the human θ1 globin gene. Nature 1988, 331, 94-96.
3. Lauer, J.; Shen, C.K.; Maniatis, T. The chromosomal arrangement of human α-like globin genes: Sequence homology and α-globin gene deletions. 1980, Cell 20, 119-130.
4. Stamatoyannopoulos, G.; Constantoulakis, P.; Brice, M.; Kurachi, S.; Papayannopoulou, T. Coexpression of embryonic, fetal, and adult globins in erythroid cells of human embryos: Relevance to the cell-lineage models of globin switching. Dev. Biol. 123, 191-197.
5. + thalassaemia in two Dutch families. Br. J. Haematol. 1996, 95, 461-466.
6. Higgs, D.R.; Goodbourn, S.E.; Lamb, J.; Clegg, J.B.; Weatherall, D.J.; Proudfoot, N.J. α-thalassaemia caused by a polyadenylation signal mutation. Nature 1983, 306, 398-400.
7. Orkin, S.H.; Goff, S.C.; Hechtman, R.L. Mutation in an intervening sequence splice junction in man. Proc. Natl. Acad. Sci. USA 1981, 78, 5041-5045.
8. Fei, Y-J.; Oner, R.; Bozkurt, G.; Gu, L-H.; Altay, C.; Gurgey, A.; Fattoum, S.; Baysal, E.; Huisman, T.H.J. Hb H disease caused by a homozygosity for the AATAAA→AATAAG mutation in the polyadenylation site of the α2-globin gene; hematological observations. Acta Haematol. 1992, 88, 82-85.
9. Higgs, D.R. A review of the molecular genetics of the human α-globin gene cluster. Blood 1989, 73, 1004-1081.
10. Smith, M.B.; Cauchi, M.N. Quantitative studies of Hb Bart's levels and red cell indices in α thalassemia trait in Mediterraneans. Pathology, 1979, 11, 621-627.
11. Lie-Injo, L.E.; Solai, A.; Herrera, A.R.; Nicolaisen, L.; Kan, Y.W.; Wan, W.P.; Hasan, K. Hb Bart's level in cord blood and deletions of α-globin genes. Blood 1982, 59, 370-376.
12. Kyriacou, K.; Kyrri, A.; Kalogirou, E.; Vasiliades, Ph.; Angastiniotis, M.; Ioannou, P.A.; Kleanthous, M. Hb Bart's levels in cord blood and α-thalassemia mutations in Cyprus. Hemoglobin 2000, 24 (3), 171-180.
13. Fattoum, S.; Abbes, S. Some data on the epidemiology of hemoglobinopathies in Tunisia. Hemoglobin 1985, 9 (4), 423-429.
14. 2 levels in health and various hematologic disorders. Am. J. Clin. Pathol. 1977, 67, 219-226.
15. Liu, Y.T.; Old, J.M.; Miles, K.; Fisher, C.A.; Weatherall, D.J.; Clegg, J.B. Rapid detection of α-thalassaemia deletions and α-globin gene triplications by multiplex polymerase chain reaction. Br. J. Haematol. 2000, 108, 295-299.
16. Chong, S.S.; Boehm, C.D.; Higgs, D.R.; Cutting, G.R. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood 2000, 95, 360-362.
17. Dode, C.; Rochette, J.; Krishnamoorthy, R. Locus assignment of human α globin mutations by selective amplification and direct sequencing. Br. J. Haematol. 1990, 76, 275-281.
18. Harteveld, K.L.; Heister, A.J.; Giordano, P.C.; Losekoot, M.; Bernini, L.F. Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA. Hum. Mutat. 1996, 7, 114-122.
19. T-Saudi (AATAAA→AATAAG) in the α2-globin gene. Hemoglobin 1999, 23 (3), 213-220.
20. Segbena, A.Y.; Prehu, C.; Wajcman, H.; Bardakdjian-Michau, J.; Messie, K.; Feteke, L.; Vovor, A.; David, M.; Feingold, J.; Galactéros, F. Hemoglobins in togolese newborns: Hb S, Hb C, Hb Bart's, and α-globin gene status. Am. J. Hematol. 1998, 59, 208-213.
21. anti 3.7 triplication by enzymatic amplification analysis. Br. J. Haematol. 1993, 83, 105-111.
22. Olivieri, N.E; Chang, L.S.; Poon, A.O.; Michelson, A.M.; Orkin, S.H.: An α-globin gene initiation codon mutation in a black family with Hb H disease. Blood 1987, 70, 729-732.
23. Yüregir, G.T.; Aksoy, K.; Cürük, M.A.; Dikmen, N.; Fei, Y-J.; Baysal, E.; Huisman, TH.J. Hb H Disease in a Turkish family resulting from the interaction of a deletional α-thalassaemia-1 and a newly discovered poly a mutation. Br. J. Haematol. 1992, 80, 527-532.
24. 1, globin 129 leu→pro unstable variant with thalassaemic phenotype. Br. J. Haematol. 1995, 90, 71-76.
25. Harteveld, C.L.; Giordano, P.C.; Losekoot, M.; Heister, J.G.A.M.; Batelaan, D.; van Delft, P.; Bruin, M.C.A.; Bemini, L.F.: Hb Utrecht [α2 129(H12)Leu→Pro], a new unstable α2-chain variant associated with a mild α-thalassaemic phenotype. Br. J. Haematol. 1996, 94, 483-485.
26. Elion Gerritsen, W.E.; Giordano, P.C.; Haak, H.L. De standaard "anemie in de eerstelijns vefioskundige praktijk" vande Koninklijke Nederlandse Organisatie van Verloskundigen (KNOV): Risico voor het niet onder van ijzergebrek en hemoglobinopatie. Ned. Tijdschr. Geneeskd. 2002, 146, 457-459.
27. Singla, P.N.; Tyagi, M.; Shankar, R.; Dash, D.; Kumar, A. Fetal iron status in maternal anemia. Acta Paediatr. 1996, 85, 1327-1330.
28. Bemini, L.F. Geographic distribution of α thalassemia. In Disorders of Hemoglobin, 1st Ed.; Steinberg, M.H., Forget, B.G., Higgs, D.R., Nagel, R.L., Eds.; Cambridge University Press: Cambridge, England, 2001; 878-894.