Dominant β-thalassemia due to a newly identified frameshift mutation in exon 3 (codon 113, GTG → TG)

Hemoglobin

Volumn 26, Issue 1, 2002, Pages 83-86

  Waye, John S ^a,b   Walker, Lynda ^a   Lafferty, John ^c   Lemire, Edmond G ^d   Chui, David H K ^a,b  

^a HAMILTON REGIONAL LABORATORY MEDICINE PROGRAM   (Canada)

^b MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^c ST JOSEPH S HOSPITAL   (Canada)

^d UNIVERSITY OF SASKATCHEWAN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BETA THALASSEMIA; CANADA; CASE REPORT; CODON; EXON; FRAMESHIFT MUTATION; HUMAN; MALE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE;

ADULT; BETA-THALASSEMIA; BLOOD TRANSFUSION; CODON; COMBINED MODALITY THERAPY; DNA MUTATIONAL ANALYSIS; EUROPE; EXONS; FOLIC ACID; FRAMESHIFT MUTATION; GENES, DOMINANT; GLOBINS; HUMANS; MALE; ONTARIO; SEQUENCE ANALYSIS, DNA; SPLENECTOMY;

EID: 0036211055     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-120002945     Document Type: Article

References (10)

1. Molecular basis for dominantly inherited inclusion body β-thalassemia
2. Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the β-globin gene
3. Dominant β thalassaemia: Molecular basis and pathophysiology
4. Is it dominantly inherited β thalassaemia or just a β-chain variant that is highly unstable?
5. Structural variants with a β-thalassemia phenotype
6. Erythroblastic inclusions in dominantly inherited β thalassemia
7. Rapid detection and prenatal diagnosis of β-thalassaemia: Studies in the Indian and Cypriot populations of the UK
8. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
9. Inclusion-body β-thalassemia trait in a swiss family is caused by an abnormal hemoglobin (Geneva) with an altered and extended β chain carboxyterminus due to modification in codon β114