Abstract |
We describe the molecular and the hematological characteristics of a Korean family with a dominantly inherited beta-thalassemia. Carriers were characterized by moderate anemia, hypochromia, microcytosis, elevated Hb A2 and Hb F levels, and splenomegaly. DNA analysis revealed a CTG (Leu) to CCG (Pro) substitution at codon 114 of the beta-globin gene, that leads to a highly unstable hemoglobin variant, Hb Durham-N.C./Brescia, and this was linked to the beta haplotype V, [+----+-], and framework 2. RNA analysis showed that the proband had comparable levels of mutant and normal beta- mRNA. Translation of the mutant mRNA would give rise to non-functional hyperunstable beta-globin chains, and their degradation would, by placing an additional burden on the proteolytic process of the red blood cell precursors, result in a more severe phenotype.
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Authors | J Y Kim, S S Park, S H Yang, S I Joo, Y J Lee, E K Ra, S Shin, E C Kim, H I Cho |
Journal | Hemoglobin
(Hemoglobin)
Vol. 25
Issue 1
Pg. 79-89
(Feb 2001)
ISSN: 0363-0269 [Print] England |
PMID | 11300352
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Codon
- Hemoglobins, Abnormal
- RNA, Messenger
- hemoglobin Brescia
- Globins
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Topics |
- Adolescent
- Adult
- Amino Acid Substitution
- Codon
(genetics)
- DNA Mutational Analysis
- Female
- Genes, Dominant
- Globins
(genetics)
- Haplotypes
(genetics)
- Hemoglobins, Abnormal
(analysis, genetics)
- Heterozygote
- Humans
- Korea
(epidemiology)
- Male
- Middle Aged
- Mutation, Missense
- Phenotype
- Protein Biosynthesis
- RNA, Messenger
(biosynthesis)
- Splenomegaly
(etiology)
- beta-Thalassemia
(epidemiology, genetics)
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