Co-existence of the codon 16 (-C) (β0) and codon 10 (C→A) (β+) mutations on the same β-globin gene

Hemoglobin

Volumn 27, Issue 2, 2003, Pages 133-135

  Colah, Roshan B ^a   Nadkarni, Anita ^a   Pawar, Aruna ^a   Gorakshakar, Ajit ^a   Phanasgaonkar, Supriya ^a   Mohanty, Dipika ^a  

^a KEM HOSPITAL   (India)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN;

ARTICLE; BETA THALASSEMIA; CODON; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC POLYMORPHISM; HOMOZYGOSITY; PHENOTYPE;

BASE SEQUENCE; BETA-THALASSEMIA; CODON; DNA; FRAMESHIFT MUTATION; GLOBINS; HUMANS; POLYMORPHISM, GENETIC;

EID: 0037908838     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-120021549     Document Type: Article

References (4)

1. Old JM, Khan SN, Verma I, Fucharoen S, Kleanthous M, Ioannou P, Kotea N, Fisher C, Riazuddin S, Saxena R, Winichagoon P, Kyriacou K, Al-Quobaili F, Khan B. A multicenter study in order to further define the molecular basis of β-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction. Hemoglobin 2001; 25(4):397-407.
2. Krugluger W, Hopmeier P. Identification of a compound β-thalassemia homozygosity [codon 10 (GCC→GCA) and codon 16 (-C)] in an Afghan family. Hemoglobin 2002; 26(3):317-320.
3. + thalassemia mutation (codon 10 GCC→GCA) and a rare transcriptional mutation (-28 A→G) in Indians. Blood 1997; 89:3888-3889.
4. Huisman THJ, Carver MFH, Efremov GD. A Syllabus of Human Hemoglobin Variants. 2nd ed., Augusta: The Sickle Cell Anemia Foundation, 1998 (http://globin.cse.psu.edu).