Homozygosity for a rare β0-thalassemia mutation [frameshift codons 25/26 (+T)] causes β-thalassemia intermedia in an Iranian family

Hemoglobin

Volumn 33, Issue 1, 2009, Pages 75-80

  Haghi, Mehdi ^a   Hosseinpour Feizi, Abbas A ^b   Harteveld, Cornelis L ^c   Pouladi, Nasser ^d   Hosseinpour Feizi, Mohammad A ^a  

^a UNIVERSITY OF TABRIZ   (Iran)

^b TABRIZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d AZARBAIJAN SHAHID MADANI UNIVERSITY   (Iran)

Author keywords

0 thalassemia ( 0 thal) mutation; Frameshift codons (FSC) 25 26 (+T); XmnI marker

Indexed keywords

HEMOGLOBIN F;

ADULT; ARTICLE; AZERBAIJAN; BETA THALASSEMIA; BLOOD TRANSFUSION; CHILD; CLINICAL ARTICLE; CODON; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE CLUSTER; GENE DELETION; GENE INTERACTION; GENE LOCUS; GENE MUTATION; GENETIC POLYMORPHISM; GLOBIN GENE; HEMOGLOBIN BLOOD LEVEL; HOMOZYGOSITY; HUMAN; INHERITANCE; IRAN; MALE; PHENOTYPE; PROMOTER REGION; SCHOOL CHILD; TUNISIA;

BETA-GLOBINS; BETA-THALASSEMIA; BLOOD TRANSFUSION; FAMILY HEALTH; FRAMESHIFT MUTATION; GAMMA-GLOBINS; HOMOZYGOTE; HUMANS; IRAN; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC;

EID: 60749114791     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260802683377     Document Type: Article

References (18)

1. Ratip S, Petrou M, Old JM, Wonke B, Porter JB, Modell B. Relationship between the severity of β-thalassemia syndromes and the number of alleviating mutations. Eur J Haematol. 1997;58(1):14-21.
2. Amato A, Cappabianca MP, Ponzini D, et al. Detection of a rare β-globin nonsense mutation [codon 59 (AATAG)] in an Italian family. Hemoglobin. 2006;30(3):405-407.
3. γ expression. Blood. 1985;66(6):1463-1465.
4. Sampietro M, Cazzola M, Cappellini MD, Fiorelli G. The triplicated α-gene locus and heterozygous β-thalassaemia: A case of thalassaemia intermedia. Br J Haematol. 1983;55(4):709-710.
5. 0-thalassemia traits. Hum Hered. 1998;48(3):121-125.
6. Fattoum S, Guemira F, Öner C, et al. β-Thalassemia, Hb S-β-thalassemia and sickle cell anemia among Tunisians. Hemoglobin. 1991;15(1&2):11-21.
7. Bibi A, Messaoud T, Fattoum S. Haplotypes linked to three rare β-thalassemia mutations, originally reported in Tunisia. Hemoglobin. 2006;30(2):175-181.
8. Hosseinpour Feizi MA, Hosseinpour Feizi AA, Pouladi N, Haghi M, Azarfam P. Molecular spectrum of β-thalassemia mutations in Northwestern Iran. Hemoglobin. 2008;32(3):255-261.
9. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002;30(12):e57.
10. Harteveld CL, Voskamp A, Phylipsen M, et al. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligationdependent probe amplification. J Med Genet. 2005;42(12):922-931.
11. Wood WG, Weatherall DJ. Developmental genetics of the human haemoglobins. Biochem J. 1983;215(1):1-10.
12. S chromosomes are associated with different levels of fetal globin in Hemoglobin S homozygotes. Blood. 1992;79(3):813-819.
13. Miyoshi K, Kaneto Y, Kawai H, et al. X-Linked dominant control of F-cells in normal adult life: Characterization of the Swiss type as hereditary persistence of fetal hemoglobin regulated dominantly by gene(s) on X chromosome. Blood. 1988;72(6):1854-1860.
14. Marinucci M, Mavilio F, Giuliani A, et al. β Thalassemia associated with increased Hb F production. Evidence for the existence of a heterocellular hereditary persistence of fetal hemoglobin (HPFH) determinant linked to β thalassemia in a southern Italian population. Hemoglobin. 1981;5(1):1-17.
15. Garner C, Mitchell J, Hatzis T, Reittie J, Farrall M, Thein SL. Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23. Am J Hum Genet. 1998;62(6):1468-1474.
16. Dover GJ, Smith KD, Chang YC, Purvis S, Mays A, Meyers DA, et al. Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2. Blood. 1992;80(3):816-824.
17. S haplotypes. Br J Haematol. 1997;96(4):806-814.
18. Garner C, Tatu T, Best S, Creary L, Thein SL. Evidence for genetic interaction between the β-globin complex and chromosome 8q in the expression of fetal hemoglobin. Am J Hum Genet. 2002;70(3):793-799.