A Korean family with a dominantly inherited β-thalassemia due to Hb Durham-N.C./Brescia [β114(G16)Leu → Pro]

Hemoglobin

Volumn 25, Issue 1, 2001, Pages 79-89

  Ji Yeon Kim, ^a   Sung Sup Park, ^a   Sung Hyun Yang, ^a   Joo, S I ^a   Young Joon Lee, ^a   Eun Kyung Ra, ^a   Shin, S ^a   Eui Chong Kim, ^a   Cho, H I ^a  

^a Seoul National University Hospital   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; HEMOGLOBIN BRESCIA; HEMOGLOBIN DURHAM; HEMOGLOBIN VARIANT; LEUCINE; MESSENGER RNA; PROLINE; UNCLASSIFIED DRUG;

ARTICLE; BETA THALASSEMIA; DNA DETERMINATION; DOMINANT INHERITANCE; HUMAN; IRON DEFICIENCY ANEMIA; KOREA; PHENOTYPE; PROTEIN DEGRADATION; RNA ANALYSIS; SPLENOMEGALY; STEM CELL;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; BETA-THALASSEMIA; CODON; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GLOBINS; HAPLOTYPES; HEMOGLOBINS, ABNORMAL; HETEROZYGOTE; HUMANS; KOREA; MALE; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; PROTEIN BIOSYNTHESIS; RNA, MESSENGER; SPLENOMEGALY;

BRESCIA;

EID: 0035089338     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-100103072     Document Type: Article

References (23)

1. Is it dominantly inherited β thalassaemia or just a β-chain variant that is highly unstable?
2. A novel β-globin structural mutant, Hb Brescia (β114 Leu → Pro), causing a severe β-thalassemia intermedia phenotype
3. A novel β-globin mutation, β Durham-NC [β114 Leu → Pro], produces a dominant thalassemia-like phenotype
4. β-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients
5. A simple salting out procedure for extracting DNA from human nucleated cells
6. Hb Madrid [β115(G17)Ala → Pro] in a Korean family with chronic hemolytic anemia
7. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster
8. Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes
9. Molecular basis of β-thalassemia in the Maldives
10. Nonrandom association of polymorphic restriction sites in the β-globin gene cluster
11. Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene
12. Amplication-refractory mutation system (ARMS) analysis of point mutations
13. Diagnosis of thalassaemia by non-isotope detection of α/β and ζ/α mRNA ratios
14. Nonsense codon mutations in the terminal exon of the β-globin gene are not associated with a reduction in β-mRNA accumulation: A mechanism for the phenotype of dominant β-thalassemia
15. Two missense mutations in the β-globin gene can cause severe β thalassemia
16. The dominant β-thalassaemia in a Spanish family is due to a frameshift that introduces an extra CGG codon (= arginine) at the 5′ end of the second exon
17. Dominantly transmitted β-thalassemia arising from the production of several aberrant mRNA species and one abnormal peptide
18. Erythroblastic inclusions in dominantly inherited β thalassemias
19. 2114(G16)Leu → Met
20. Hb Zengcheng [β114(G16)Leu → Met] in a Cambodian family
21. 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 a modification in codon β114