α-Thalassemia caused by two novel splice mutations of the α2-globin gene: IVS-I-1 (G>A and G>T)

Hemoglobin

Volumn 33, Issue 6, 2009, Pages 519-522

  Waye, John S ^a,b   Eng, Barry ^a   Dutly, Fabrizio ^c   Frischknecht, Hannes ^c  

^a HAMILTON REGIONAL LABORATORY MEDICINE PROGRAM   (Canada)

^b MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^c Institute for Medical and Molecular Diagnostics Ltd   (Switzerland)

Author keywords

Thalassemia ( thal); Splice donor

Indexed keywords

ALPHA GLOBIN; ALPHA2 GLOBIN; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ALPHA THALASSEMIA; ARTICLE; BLOOD CELL COUNT; CASE REPORT; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; INTRON; MALE; POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS;

AGED; ALPHA-GLOBINS; ALPHA-THALASSEMIA; CANADA; FEMALE; HUMANS; INTRONS; MALE; MIDDLE AGED; POINT MUTATION; RNA SPLICING; SICILY;

EID: 72049129695     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630260903333377     Document Type: Article

References (12)

1. Hardison RC, Chui DHK, Giardine B, et al. HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225-233 (http://globin.cse.psu.edu).
2. Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32(Database issue):D537-D541 (http://globin.cse.psu.edu).
3. Steinberg MH, Embury SH. a-Thalassemia in blacks: genetic and clinical aspects and interactions with the sickle hemoglobin gene. Blood 1986;68(5):985-990.
4. Dodé C, Rochette J, Krishnamoorthy R. Locus assignment of the human a-globin mutations by selective amplification and direct sequencing. Br J Haematol. 1990;76(2):275-281.
5. Harteveld KL, Heister AJ, Giordano PC, Losekoot M, Bernini LF. Rapid detection of point mutations and polymorphisms of the a-globin genes by DGGE and SSCA. Hum Mutat. 1996;7(2):114-122.
6. Burset M, Seledtsov IA, Solovyev VV. Analysis of canonical and non-canonical splice sites in mammalian genomes. Nucleic Acids Res. 2000;28(21):4364-4375.
7. Orkin SH, Goff SC, Hechtman RL. Mutation in an intervening sequence splice junction in man. Proc Natl Acad Sci USA. 1981;78(8):5041-5045.
8. Harteveld CL, Beijer C, van Delft P, Zanardini R, Bernini LF, Giordano PC. a-Thalassaemia as a result of a novel splice donor site mutation of the a1-globin gene. Br J Haematol. 2000;110(3): 694-698.
9. Moradkhani K, Préhu C, Old J, et al. Mutations in the paralogous human a-globin genes yielding identical hemoglobin variants. Ann Hematol. 2009;88(6)535-543.
10. Chui DHK, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood. 2003;101(3):791-800.
11. Wajcman H, Traeger-Synodinos J, Papassotiriou I, et al. Unstable and thalassemic a chain hemoglobin variants: A cause of Hb H disease and thalassemia intermedia. Hemoglobin. 2008;32(4):327-349.
12. Lorey F, Charoenkwan P, Witkowska HE, et al. Hb H hydrops foetalis syndrome: A case report and review of the literature. Br J Haematol. 2001;115(1):72-78.