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[PMID]:28007020
[Au] Autor:Lederer CW; Pavlou E; Tanteles GA; Evangelidou P; Sismani C; Kolnagou A; Sitarou M; Christou S; Hadjigavriel M; Kleanthous M
[Ad] Endereço:a Department of Molecular Genetics Thalassaemia , The Cyprus Institute of Neurology and Genetics, Cyprus & Cyprus School of Molecular Medicine , Nicosia , Cyprus.
[Ti] Título:Hb A Episkopi - a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent.
[So] Source:Hematology;22(5):304-309, 2017 Jun.
[Is] ISSN:1607-8454
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Thalassaemia is a potentially lethal inherited anaemia, caused by reduced or absent synthesis of globin chains. Measurement of the minor adult haemoglobin Hb A , combining α- with δ-globin, is critical for the routine diagnosis of carrier status for α- or ß-thalassaemia. Here, we aim to characterize a novel δ-globin variant, Hb A Episkopi, in a single family of mixed Lebanese and Cypriot ancestry with mild hypochromic anaemia and otherwise normal globin genotype, which also presents with a coincidental 0.78-Mb sequence duplication on chromosome 1 (1q44) and developmental abnormalities. METHODS: Analyses included comprehensive haematological analyses, cation-exchange high-performance liquid chromatography (CE-HPLC), cellulose acetate electrophoresis (CAE), Sanger sequencing and structure-based stability predictions for Hb A Episkopi. RESULTS: The GCT > GTT missense mutation, underlying Hb A Episkopi, HBD:c.428C > T, introduces a cd142 codon change in the mature protein, resulting in reduced normal Hb A amounts and a novel, less abundant Hb A variant (HGVS: HBD:p.A143V), detectable as a delayed peak by CE-HPLC. The latter was in line with structure-based stability predictions, which indicated that the substitution of a marginal, non-helical and non-interface residue, five amino acids from the δ-globin chain carboxy-terminus, was moderately destabilizing. DISCUSSION: Detection of the new variant depends on the diagnostic set-up and had failed by CAE and on an independent CE-HPLC system, which, in unfavourable circumstances, may lead to misdiagnoses of ß-thalassaemia as α-thalassaemia. Given the mixed background of the affected family, the ethnic origin of the mutation is unclear, and this study thus suggests awareness for possible detection of Hb A Episkopi in both the Cypriot and the Lebanese populations.
[Mh] Termos MeSH primário: Anemia Hipocrômica/genética
Cromossomos Humanos Par 1/genética
Hemoglobinas Anormais/genética
Mutação de Sentido Incorreto
Globinas delta/genética
[Mh] Termos MeSH secundário: Adulto
Substituição de Aminoácidos
Chipre
Família
Feminino
Seres Humanos
Líbano
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobins, Abnormal); 0 (delta-Globins)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170612
[Lr] Data última revisão:
170612
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161224
[St] Status:MEDLINE
[do] DOI:10.1080/10245332.2016.1265043


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[PMID]:27461962
[Au] Autor:Hariharan P; Colaco S; Colah R; Ghosh K; Nadkarni A
[Ad] Endereço:National Institute of Immunohaematology (ICMR), K.E.M. Hospital Campus, Parel, Mumbai, India.
[Ti] Título:Delta globin gene variations leading to reduction in HbA levels.
[So] Source:Int J Lab Hematol;38(6):610-615, 2016 Dec.
[Is] ISSN:1751-553X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Mutations in the δ-globin gene are not pathogenically relevant, but co-inheritance of δ-globin variants along with ß-globin gene defects can mask the diagnosis of ß-thalassaemia trait. METHODS: Routine haematological parameters were carried out. Molecular analysis of ß-globin gene mutations was carried out by CRDB, ARMS and DNA sequencing. δ- globin gene analysis was carried out by DNA sequencing. RESULTS: In this case study, we report a ß-thalassaemia trait (IVS 1-5G→C) (HBB:c.92 + 5G→C) with HbA of 1% showing the presence of δ-globin gene variant HbA St. George CD 81 (C→T) (HBD:c.244C→T). A similar observation was reported in another unrelated patient who showed near absence of HbA level in HPLC. He showed a presence of δ-globin gene mutation HbA Saurashtra CD 100(C→T) (HBD: c.301C→T) and a single 3.7 kb deletion in the α-globin gene. CONCLUSION: In the countries, where ß-thalassaemia is prevalent, an awareness and detection of different δ-globin gene mutations is important, as complex interactions between these haemoglobinopathies can lead to the misdiagnosis of ß-thalassaemia carriers.
[Mh] Termos MeSH primário: Hemoglobina A2/análise
Globinas delta/genética
[Mh] Termos MeSH secundário: Erros de Diagnóstico
Hemoglobina A2/deficiência
Hemoglobinopatias/diagnóstico
Seres Humanos
Mutação
Análise de Sequência de DNA
Globinas beta/genética
Talassemia beta/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (beta-Globins); 0 (delta-Globins); 9034-53-1 (Hemoglobin A2)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160728
[St] Status:MEDLINE
[do] DOI:10.1111/ijlh.12548


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[PMID]:27117573
[Au] Autor:Yan JM; Zhou JY; Xie XM; Li J; Li DZ
[Ad] Endereço:a Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
[Ti] Título:A New δ-Globin Gene Variant: Hb A2-Fengshun [δ121(GH4)Glu→Lys (HBD: c.364G > A)].
[So] Source:Hemoglobin;40(3):213-4, 2016 Jun.
[Is] ISSN:1532-432X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:An elevated Hb A2 (α2δ2 level) is a diagnostic marker for heterozygous ß-thalassemia (ß-thal). Mutations in the δ-globin gene can cause decreased expression of Hb A2, compromising screening for heterozygous ß-thal. In this report, we describe a novel missense mutation of the δ-globin [Hb A2-Fengshun or δ121(GH4)Glu→Lys, HBD: c.364G > A] in a Chinese individual who had coinherited a heterozygous ß-thal with a normal Hb A2 level.
[Mh] Termos MeSH primário: Hemoglobina A2/genética
Mutação de Sentido Incorreto
Globinas delta/genética
[Mh] Termos MeSH secundário: Grupo com Ancestrais do Continente Asiático/genética
Hemoglobina A2/análise
Heterozigoto
Seres Humanos
Talassemia beta/diagnóstico
Talassemia beta/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (delta-Globins); 9034-53-1 (Hemoglobin A2)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170203
[Lr] Data última revisão:
170203
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160428
[St] Status:MEDLINE
[do] DOI:10.3109/03630269.2016.1164183


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[PMID]:26154945
[Au] Autor:Waye JS; Eng B; Got T; Hanna M; Hohenadel BA; Nakamura LM; Walker L
[Ad] Endereço:a Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences , Hamilton , Ontario , Canada.
[Ti] Título:Sudanese (δß)0-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion.
[So] Source:Hemoglobin;39(5):368-70, 2015.
[Is] ISSN:1532-432X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:We report a case of δß-thalassemia (δß-thal) trait in an adult male originally from Sudan. Multiplex ligation-dependent probe amplification (MLPA) was used to localize the approximate boundaries of the deletion, followed by polymerase chain reaction (PCR) amplification and sequence analysis of the junction fragment to determine the precise deletion endpoints. The deletion spans 9594 bp, with the 5' deletion endpoint located 1560 bp upstream of the δ-globin gene and the 3' endpoint within the second intervening sequence (IVS-II) of the ß-globin gene.
[Mh] Termos MeSH primário: Mutação
Globinas beta/genética
Talassemia beta/diagnóstico
Talassemia beta/genética
Globinas delta/genética
Talassemia delta/diagnóstico
Talassemia delta/genética
[Mh] Termos MeSH secundário: Adulto
Sequência de Bases
Análise Mutacional de DNA
Genótipo
Seres Humanos
Íntrons
Masculino
Fenótipo
Deleção de Sequência
Sudão
Globinas beta/química
Globinas delta/química
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (beta-Globins); 0 (delta-Globins)
[Em] Mês de entrada:1606
[Cu] Atualização por classe:150902
[Lr] Data última revisão:
150902
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150709
[St] Status:MEDLINE
[do] DOI:10.3109/03630269.2015.1057736


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[PMID]:26042536
[Au] Autor:Amosova O; Alvarez-Dominguez JR; Fresco JR
[Ad] Endereço:Department of Molecular Biology, Princeton University, Princeton, NJ 08544, USA. Electronic address: amosova@princeton.edu.
[Ti] Título:Why the DNA self-depurination mechanism operates in HB-ß but not in ß-globin paralogs HB-δ, HB-É›1, HB-γ1 and HB-γ2.
[So] Source:Mutat Res;778:11-7, 2015 Aug.
[Is] ISSN:1873-135X
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:The human ß-globin, δ-globin and É›-globin genes contain almost identical coding strand sequences centered about codon 6 having potential to form a stem-loop with a 5'GAGG loop. Provided with a sufficiently stable stem, such a structure can self-catalyze depurination of the loop 5'G residue, leading to a potential mutation hotspot. Previously, we showed that such a hotspot exists about codon 6 of ß-globin, with by far the highest incidence of mutations across the gene, including those responsible for 6 anemias (notably Sickle Cell Anemia) and ß-thalassemias. In contrast, we show here that despite identical loop sequences, there is no mutational hotspot in the δ- or É›1-globin potential self-depurination sites, which differ by only one or two base pairs in the stem region from that of the ß-globin gene. These differences result in either one or two additional mismatches in the potential 7-base pair-forming stem region, thereby weakening its stability, so that either DNA cruciform extrusion from the duplex is rendered ineffective or the lifetime of the stem-loop becomes too short to permit self-catalysis to occur. Having that same loop sequence, paralogs HB-γ1 and HB-γ2 totally lack stem-forming potential. Hence the absence in δ- and É›1-globin genes of a mutational hotspot in what must now be viewed as non-functional homologs of the self-depurination site in ß-globin. Such stem-destabilizing variants appeared early among vertebrates and remained conserved among mammals and primates. Thus, this study has revealed conserved sequence determinants of self-catalytic DNA depurination associated with variability of mutation incidence among human ß-globin paralogs.
[Mh] Termos MeSH primário: DNA/metabolismo
Guanina/metabolismo
Mutação Puntual
Globinas beta/genética
Globinas delta/genética
gama-Globinas/genética
[Mh] Termos MeSH secundário: Animais
Pareamento Incorreto de Bases
Sequência de Bases
Catálise
Códon/genética
Sequência Conservada
DNA/química
DNA/genética
Evolução Molecular
Hemoglobinopatias/genética
Seres Humanos
Dados de Sequência Molecular
Conformação de Ácido Nucleico
Alinhamento de Sequência
Homologia de Sequência do Ácido Nucleico
Especificidade da Espécie
Vertebrados/genética
Globinas beta/química
Globinas delta/química
gama-Globinas/química
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Codon); 0 (beta-Globins); 0 (delta-Globins); 0 (gamma-Globins); 5Z93L87A1R (Guanine); 9007-49-2 (DNA)
[Em] Mês de entrada:1510
[Cu] Atualização por classe:150803
[Lr] Data última revisão:
150803
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150605
[St] Status:MEDLINE


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[PMID]:25853817
[Au] Autor:Moleirinho A; Lopes AM; Seixas S; Morales-Hojas R; Prata MJ; Amorim A
[Ad] Endereço:Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; IPATIMUP-Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal; Department of Biology, Faculty of Sciences, University of Porto, Porto, Portugal.
[Ti] Título:Distinctive patterns of evolution of the δ-globin gene (HBD) in primates.
[So] Source:PLoS One;10(4):e0123365, 2015.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In most vertebrates, hemoglobin (Hb) is a heterotetramer composed of two dissimilar globin chains, which change during development according to the patterns of expression of α- and ß-globin family members. In placental mammals, the ß-globin cluster includes three early-expressed genes, ε(HBE)-γ(HBG)-ψß(HBBP1), and the late expressed genes, δ (HBD) and ß (HBB). While HBB encodes the major adult ß-globin chain, HBD is weakly expressed or totally silent. Paradoxically, in human populations HBD shows high levels of conservation typical of genes under strong evolutionary constraints, possibly due to a regulatory role in the fetal-to-adult switch unique of Anthropoid primates. In this study, we have performed a comprehensive phylogenetic and comparative analysis of the two adult ß-like globin genes in a set of diverse mammalian taxa, focusing on the evolution and functional divergence of HBD in primates. Our analysis revealed that anthropoids are an exception to a general pattern of concerted evolution in placental mammals, showing a high level of sequence conservation at HBD, less frequent and shorter gene conversion events. Moreover, this lineage is unique in the retention of a functional GATA-1 motif, known to be involved in the control of the developmental expression of the ß-like globin genes. We further show that not only the mode but also the rate of evolution of the δ-globin gene in higher primates are strictly associated with the fetal/adult ß-cluster developmental switch. To gain further insight into the possible functional constraints that have been shaping the evolutionary history of HBD in primates, we calculated dN/dS (ω) ratios under alternative models of gene evolution. Although our results indicate that HBD might have experienced different selective pressures throughout primate evolution, as shown by different ω values between apes and Old World Monkeys + New World Monkeys (0.06 versus 0.43, respectively), these estimates corroborated a constrained evolution for HBD in Anthropoid lineages, which is unlikely to be related to protein function. Collectively, these findings suggest that sequence change at the δ-globin gene has been under strong selective constraints over 65 Myr of primate evolution, likely due to a regulatory role in ontogenic switches of gene expression.
[Mh] Termos MeSH primário: Evolução Molecular
Globinas delta/genética
[Mh] Termos MeSH secundário: Animais
Conversão Gênica
Seres Humanos
Modelos Genéticos
Filogenia
Primatas
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (delta-Globins)
[Em] Mês de entrada:1603
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150409
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0123365


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[PMID]:25579773
[Au] Autor:González Borrachero ML; de la Fuente-Gonzalo F; González FA; Nieto JM; Villegas A; Ropero P
[Ad] Endereço:Servicio de Bioquímica, Hospital de Jerez, Jerez, Cádiz, España.
[Ti] Título:[Delta°-thalassemia by insertion of 27 base pairs in δ-globin gene with decreased hemoglobin A2 levels].
[Ti] Título:Delta(0)-talasemia por inserción de 27 pares de bases en el gen δ-globina con descenso de los valores de hemoglobina A2..
[So] Source:Med Clin (Barc);144(7):312-6, 2015 Apr 08.
[Is] ISSN:1578-8989
[Cp] País de publicação:Spain
[La] Idioma:spa
[Ab] Resumo:BACKGROUND AND OBJECTIVE: We describe a novel delta-thalassemia mutation causing decreased hemoglobin (Hb) A2 levels associated with Hb Watts, variant Hb resulting from a trinucleotide deletion in Spain. PATIENTS AND METHOD: Hb variant analysis was performed by cation-exchange high performance liquid chromatography (HPLC) and capillary zone electrophoresis. Polymerase chain reaction and DNA sequence analyses were used to identify mutations in the δ- and α-globin genes. RESULTS: Abnormal Hb was observed on capillary zone electrophoresis in Z6 and by cation-exchange HPLC a slower peak than HbA was observed at an retention time of 4.19min. This variant Hb is called Hb Watts [α2 74(EF3)Asp->0 or α2 75(EF4)Asp->0; HBA2:c.226_228delGAC]. The decreased HbA2 percentage owes to an insertion of 27nt between nt 83 and 84 of IVS-I of the δ-globin gene. CONCLUSIONS: When analyzing a chromatogram, the possibility of the existence of delta-thalassemia or an HbA2 variant should be considered, apart from alfa-, beta-thalassemia and structural haemoglobinopathies. To this end, each of the peaks and their percentages should be considered to allow for correct interpretation and to avoid misdiagnosis as much as possible.
[Mh] Termos MeSH primário: Hemoglobina A2/metabolismo
Hemoglobinas Anormais/metabolismo
Mutagênese Insercional
Globinas delta/genética
Talassemia delta/genética
[Mh] Termos MeSH secundário: Sequência de Bases
Biomarcadores/sangue
Feminino
Hemoglobina A2/genética
Hemoglobinas Anormais/genética
Seres Humanos
Meia-Idade
Deleção de Sequência
Espanha
alfa-Globinas/genética
Talassemia delta/sangue
Talassemia delta/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; ENGLISH ABSTRACT; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Biomarkers); 0 (Hemoglobins, Abnormal); 0 (alpha-Globins); 0 (delta-Globins); 0 (hemoglobin Watts); 9034-53-1 (Hemoglobin A2)
[Em] Mês de entrada:1512
[Cu] Atualização por classe:150315
[Lr] Data última revisão:
150315
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150113
[St] Status:MEDLINE


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[PMID]:25488195
[Au] Autor:Zebisch A; Schulz E; Grosso M; Lombardo B; Acierno G; Sill H; Iolascon A
[Ad] Endereço:Division of Hematology, Medical University of Graz, Graz, Austria.
[Ti] Título:Identification of a novel variant of epsilon-gamma-delta-beta thalassemia highlights limitations of next generation sequencing.
[So] Source:Am J Hematol;90(3):E52-4, 2015 Mar.
[Is] ISSN:1096-8652
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Talassemia/diagnóstico
Globinas beta/genética
Globinas delta/genética
Globinas épsilon/genética
gama-Globinas/genética
[Mh] Termos MeSH secundário: Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Meia-Idade
Reação em Cadeia da Polimerase Multiplex
Mutação
Linhagem
Talassemia/genética
Talassemia/patologia
[Pt] Tipo de publicação:CASE REPORTS; LETTER; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (beta-Globins); 0 (delta-Globins); 0 (epsilon-Globins); 0 (gamma-Globins)
[Em] Mês de entrada:1504
[Cu] Atualização por classe:150218
[Lr] Data última revisão:
150218
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141210
[St] Status:MEDLINE
[do] DOI:10.1002/ajh.23913


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[PMID]:25043855
[Au] Autor:Alkindi S; AlZadjali S; Daar S; Ambusaidi R; Gravell D; Al Haddabi H; Krishnamoorthy R; Pathare A
[Ad] Endereço:College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman.
[Ti] Título:First report of the spectrum of δ-globin gene mutations in Omani subjects - identification of novel mutations.
[So] Source:Int J Lab Hematol;37(2):238-43, 2015 Apr.
[Is] ISSN:1751-553X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Both coinheritance of thalassemic δ-globin mutation and coexistence of iron deficiency anemia (IDA) tend to decrease HbA2 (α2 δ2 ) level and thereby poses a diagnostic conundrum in ß-thalassemia trait. METHODS: We retrospectively studied 78 Omani subjects, presenting with low HbA2 level by high-performance liquid chromatography (HPLC), and their DNA was sequenced for the presence of mutations in the δ-globin gene (HBD). In these subjects, their serum ferritin levels allowed evaluation of the degree of iron deficiency. RESULTS: Overall, six different δ-globin gene mutations were observed in 40 study subjects (51.3%) and IDA in 33 subjects, with the remaining five subjects showing normal HBD sequence and serum ferritin level. Among the subjects with δ-globin gene mutations, seven had an associated IDA confirmed by significantly low serum ferritin levels. Heterozygosity for the delta (+) cd27G-->T mutation (HbA2 -Yialousa; HBD: c.82G>T) was the most common abnormality observed (n = 26, 66.6%) followed by heterozygosity for HBD c.-118C->T (d -68 C->T) (n = 6, 15.4%), for cd16G-->C (n = 4, 10.3%), for cd98G-->A (n = 2, 5.1%), for cd142G-->C (n = 1, 2.6%), and for cd147G-->T (n = 1, 2.6%). CONCLUSIONS: These delta mutations exhibit low HbA2 either due to a shift in the HPLC position or due to their bona fide thalassemic feature. Two mutations, namely cd142 G-->C (GCC to CCC, Ala to Pro) and stop codon cd147 G-->T (stop to Leu with elongation of 15 amino acids), herein first reported are novel. Coexistence of IDA could lead to erroneous diagnostic interpretation unless it is specifically looked for.
[Mh] Termos MeSH primário: Mutação
Globinas delta/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Alelos
Anemia Ferropriva/complicações
Anemia Ferropriva/diagnóstico
Anemia Ferropriva/metabolismo
Criança
Pré-Escolar
Análise Mutacional de DNA
Diagnóstico Diferencial
Feminino
Genótipo
Hemoglobina A2/genética
Hemoglobina A2/metabolismo
Seres Humanos
Lactente
Masculino
Meia-Idade
Omã
Índice de Gravidade de Doença
Adulto Jovem
Talassemia beta/complicações
Talassemia beta/diagnóstico
Talassemia beta/genética
Talassemia beta/metabolismo
Globinas delta/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (delta-Globins); 9034-53-1 (Hemoglobin A2)
[Em] Mês de entrada:1512
[Cu] Atualização por classe:150316
[Lr] Data última revisão:
150316
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140722
[St] Status:MEDLINE
[do] DOI:10.1111/ijlh.12272


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[PMID]:24905386
[Au] Autor:Zorai A; Moumni I; Mosbahi I; Douzi K; Chaouachi D; Guemira F; Abbes S
[Ad] Endereço:Laboratoire d'Hématologie Moléculaire et Cellulaire, Institut Pasteur, Tunis, Tunisia.
[Ti] Título:Rare hemoglobin variants in Tunisian population.
[So] Source:Int J Lab Hematol;37(2):148-54, 2015 Apr.
[Is] ISSN:1751-553X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:During the last 30 years, many studies concerning hemoglobinopathies were realized among Tunisians. More than twenty different thalassemic alleles were detected on the ß-globin gene, and less are affecting the α-globin genes. Unusual hemoglobin (Hb) variants other than Hb S, Hb C, and Hb O-arab, which are the most frequent variants in Tunisia, were also detected. Eight Tunisian subjects were studied at phenotypic and molecular levels. Hematological indices and hemoglobin (Hb) pattern were performed by alkaline electrophoresis and isoelectric focusing (IEF),and the Hb fractions were quantitated by cation exchange HPLC. On genomic level, coding regions were amplified by polymerase chain reaction (PCR) followed by a sequencing of the purified PCR products using the dye terminator method. Seven uncommon Hb variants were detected and described for the first time among Tunisians. HbA2-Tunis [δ46(CD5), Gly → Glu, GGG → GAG] is the newly described δ-chain variant in our laboratory, and some other variants (Hb Constant Spring, G San Jose, and Hb J-Bangkok) are very uncommon in the Mediterranean region. We present here an updated review of the Hb variants detected among Tunisians. Twenty-one rare Hb variants were detected affecting the α1-, α2-, δ-, γ-, and ß-globin genes, leading in some cases to a severe phenotype especially when the stability is completely altered. The ethnical history of Tunisia could explain this important variability of the observed rare Hb variants.
[Mh] Termos MeSH primário: Variação Genética
Hemoglobinopatias/epidemiologia
Hemoglobinopatias/genética
Hemoglobinas/genética
[Mh] Termos MeSH secundário: Alelos
Substituição de Aminoácidos
Análise Mutacional de DNA
Índices de Eritrócitos
Genótipo
Hemoglobinopatias/diagnóstico
Seres Humanos
Fenótipo
Vigilância da População
Estabilidade de RNA
Tunísia/epidemiologia
alfa-Globinas/genética
Globinas beta/genética
Globinas delta/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
0 (Hemoglobins); 0 (alpha-Globins); 0 (beta-Globins); 0 (delta-Globins)
[Em] Mês de entrada:1512
[Cu] Atualização por classe:150316
[Lr] Data última revisão:
150316
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140607
[St] Status:MEDLINE
[do] DOI:10.1111/ijlh.12259



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