Severe β0 thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of β globin gene

American Journal of Hematology

Volumn 82, Issue 7, 2007, Pages 663-665

  Rojnuckarin, Ponlapat ^a   Settapiboon, Rung ^a   Vanichsetakul, Preeda ^a   Sueblinvong, Tada ^a   Sutcharitchan, Pranee ^a  

^a CHULALONGKORN UNIVERSITY   (Thailand)

Author keywords

thalassemia; DNA mutation; Hemoglobinopathies

Indexed keywords

BETA GLOBIN; DNA; HEMOGLOBIN E;

ARTICLE; BETA THALASSEMIA; CASE REPORT; DOT HYBRIDIZATION; FEMALE; GENE DELETION; GENE DUPLICATION; GLOBIN GENE; HEMOGLOBIN DETERMINATION; HUMAN; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

ALLELES; BASE PAIRING; BASE SEQUENCE; BETA-THALASSEMIA; FATHERS; FEMALE; GENE DUPLICATION; GLOBINS; HEMOGLOBIN E; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA;

EID: 34347323929     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.20816     Document Type: Article

References (9)

1. Rund D, Rachmilewitz E. β Thalassemia. N Engl J Med 2005;353: 1135-1146.
2. Cabeda JM, Correia C, Estevinho A, et al. Unexpected pattern of β-globin mutations in β-thalassaemia patients from northern Portugal. Br J Haematol 1999;105:68-74.
3. Blacklock HA, Case J, Chan T, et al. Novel sequence insertion in a Maori patient with transfusion-dependent β-thalassaemia. Br J Haematol 2005;131:400-402.
4. Sutcharitchan P, Saiki R, Fucharoen S, Winichagoon P, Erlich H, Embury SH. Reverse dot-blot detection of Thai β-thalassaemia mutations. Br J Haematol 1995;90:809-816.
5. Liu YT, Old JM, Miles K, Fisher CA, Weatherall DJ, Clegg JB. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol 2000;108:295-299.
6. Tiller GE, Rimoin DL, Murray LW, Cohn DH. Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. Proc Natl Acad Sci USA 1990;87:3889-3893.
7. Levinson G, Gutman GA. Slipped-strand mispairing: A major mechanism for DNA sequence evolution. Mol Biol Evol 1987;4: 203-221.
8. Prehu C, Groff P, Kalmes G, et al. Short insertion in a hemoglobin chain: Hb Esch, an unstable α1 variant with duplication of the sequence Ala65-Leu-Thr-Asn68. Blood Cells Mol Dis 2003;31: 234-239.
9. Chehab FF, Honig GR, Kan YW. Spontaneous mutation in β-thalassaemia producing the same nucleotide substitution as that in a common hereditary form. Lancet 1986;1:3-5.