COMPOUND HETEROZYGOSITY FOR Hb SPANISH TOWN [α27(B8)Glu→Val], Hb S [β6(A3)Glu→Val] AND THE −α(3.7 kb) THALASSEMIA DELETION

Faustino, Paula; Picanço, Isabel; Miranda, Armandina; Seixas, Teresa; Ferrão, Anabela; Morais, Anabela; Lavinha, João; Romão, Luı́sa

doi:10.1081/hem-120005458

Cited by 2 publications

(1 citation statement)

References 5 publications

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“…Polymerase chain reaction (PCR)‐based methods were used for the diagnosis of the following α ‐thalassaemia deletional determinants: ‐ α 3·7 (Dodé et al , 1992), ‐ α 4·2 (Baysal & Huisman, 1994), −− MED , −− SEA and ‐( α ) 20·5 (Bowden et al , 1992). Both α ‐globin genes ( α 1 and α 2 ) were selectively amplified and analysed by single‐stranded conformation polymorphism (SSCP), as previously described (Faustino et al , 2002). The PCR fragment showing abnormal SSCP mobility was directly sequenced on an ABI Prism TM 3100 DNA Genetic Analyzer (Applied BioSystems, Foster City, CA, USA).…”

Section: Patient and Methodsmentioning

confidence: 99%

Human α2‐globin nonsense‐mediated mRNA decay induced by a novel α‐thalassaemia frameshift mutation at codon 22

Pereira¹,

Silva²,

Picanço³

et al. 2006

Br J Haematol

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SummaryWe describe a novel a-thalassaemia determinant in a 3-year-old girl presenting a mild microcytic and hypochromic anaemia, and normal haemoglobin A 2 level. Molecular studies revealed heterozygosity for a novel microdeletion ()C) at codon 22 of the a 2 -globin gene. As the frameshift mutation generates a premature translation termination codon at position 48/49, we investigated the effect of the nonsense codon on the a 2 -globin gene expression. Although it does not affect RNA splicing, the premature nonsense codon induces accelerated mRNA degradation. To our knowledge, this is the first time the nonsense-mediated mRNA decay has been reported to occur in human a-globin mRNA.

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Section: Patient and Methodsmentioning

confidence: 99%

Human α2‐globin nonsense‐mediated mRNA decay induced by a novel α‐thalassaemia frameshift mutation at codon 22

Pereira¹,

Silva²,

Picanço³

et al. 2006

Br J Haematol

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Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins

Panyasai,

Chantanaskulwong,

Permsripong

et al. 2024

Libyan Journal of Medicine

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To determine the molecular basis, genotype – phenotype relationship, and genetic origin of Hemoglobin (Hb) Hekinan associated with several forms of α-thalassemia and other hemoglobinopathies for a better understanding of its diverse clinical phenotypes. Seventeen participants with suspected abnormal Hb were studied. Hb analysis was performed using high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Mutational and α-haplotypic and structural analyses were conducted, and the effects of mutations on globin-chain stability were determined. All participants harbored Hb Hekinan II (HBA1:c.84 G>T) co-inherited with another α-globin gene anomaly. Three novel genotypes, (αα Hekinan /α CS α), (αα Hekinan /α CS α,β A /β E ), and (αα Hekinan /α CS α,β E /β E ), were characterized. Despite being co-inherited with both α- and β-Hb variants Hb Hekinan II led to minimal changes in erythrocyte parameters, suggesting a non-pathological nature. HPLC but not CE revealed a distinct small shoulder-like Hb pattern. Thai Hb Hekinan II was strongly associated with haplotype [+ - S + - - -] and the possibility of four different haplotypes, while two Burmese Hb Hekinan II were associated with haplotypes [± - S + - + -] and [± - S + - - -]. The novel genotypes identified provide a fresh perspective on Hb Hekinan II diversity. HPLC has superior identification capabilities for samples of Hb Hekinan II co-inherited with α-thalassemia. Thai and Burmese Hb Hekinan II have diverse origins.

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COMPOUND HETEROZYGOSITY FOR Hb SPANISH TOWN [α27(B8)Glu→Val], Hb S [β6(A3)Glu→Val] AND THE −α(3.7 kb) THALASSEMIA DELETION

Cited by 2 publications

References 5 publications

Human α2‐globin nonsense‐mediated mRNA decay induced by a novel α‐thalassaemia frameshift mutation at codon 22

Human α2‐globin nonsense‐mediated mRNA decay induced by a novel α‐thalassaemia frameshift mutation at codon 22

Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins

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