| Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants. | Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants.
Xu A, Li M, Ye Y, Li L, Ma M, Wu SY, Ji L. | 11/18/2023 |
| Detecting rare thalassemia in children with anemia using third-generation sequencing. | Detecting rare thalassemia in children with anemia using third-generation sequencing.
Ren ZM, Li WJ, Xing ZH, Fu XY, Zhang JY, Chen YS, Li DF. | 08/22/2023 |
| Molecular characterization of a novel homozygous deletion in beta-globin cluster causing (deltabeta)[0]-Thalassemia among Tunisian family. | Molecular characterization of a novel homozygous deletion in β-globin cluster causing (δβ)(0)-Thalassemia among Tunisian family.
Kalai M, Moumni I, Ouragini H, Ben Fraj I, Mellouli F, Ouederni M, Chaouachi D, Boudriga I, Menif S. | 03/23/2023 |
| Analysis of delta-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations. | Analysis of δ-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations.
Kasmi C, Amri Y, Hadj-Fredj S, Oueslati S, Dabboussi M, Mahjoub R, Hammami S, Aljane I, Mami FB, Jamoussi H, Messaoud T, Bibi A. | 01/29/2022 |
| Delta-globin gene expression improves sickle cell disease in a humanised mouse model. | Delta-globin gene expression improves sickle cell disease in a humanised mouse model.
Porcu S, Simbula M, Marongiu MF, Perra A, Poddie D, Perseu L, Kowalik MA, Littera R, Barella S, Caria CA, Demartis FR, Ristaldi MS. | 10/2/2021 |
| Association of polymorphisms in the HBG1-HBD intergenic region with HbF levels. | Association of polymorphisms in the HBG1-HBD intergenic region with HbF levels.
Hu L, Huang L, Han Y, Jin T, Liu J, Jiang M, Liu X, Li Y, Han W, An B, Huang S., Free PMC Article | 08/21/2021 |
| delta-Hemoglobinopathies in Thailand: screening, molecular basis, genotype-phenotype interaction, and implication for prevention and control of thalassemia. | δ-Hemoglobinopathies in Thailand: screening, molecular basis, genotype-phenotype interaction, and implication for prevention and control of thalassemia.
Singha K, Fucharoen G, Fucharoen S. | 07/31/2021 |
| delta-Globin Chain Variants Associated with Decreased Hb A2 Levels: A National Reference Laboratory Experience. | δ-Globin Chain Variants Associated with Decreased Hb A(2) Levels: A National Reference Laboratory Experience.
Rets AV, Reading NS, Agarwal AM. | 07/17/2021 |
| Blood donor homozygous for Hb D Los Angeles. | Blood donor homozygous for Hb D Los Angeles.
Silva-Pinto AC, Silva TJ, Moretto EL, Ottoboni MÂ, Rodrigues ES, Covas DT. | 09/26/2015 |
| The expression of the activated delta-globin gene in a beta-thalassemia mice model greatly improves the phenotype, validating the delta-globin chain as a therapeutic target for beta-hemoglobinopathies. | In vivo activation of the human δ-globin gene: the therapeutic potential in β-thalassemic mice.
Manchinu MF, Marongiu MF, Poddie D, Casu C, Latini V, Simbula M, Galanello R, Moi P, Cao A, Porcu S, Ristaldi MS., Free PMC Article | 07/19/2014 |
| Data indicate that a delta-globin mutation was suspected in both patients. | Two complex associations of an HBD mutation and a rare α hemoglobinopathy.
Joly P, Lacan P, Garcia C, Francina A. | 04/5/2014 |
| Twenty-one different mutations were detected, and of these 12 have not been previously described. | Analysis of δ-globin gene mutations in the Chinese population.
Liu N, Xie XM, Zhou JY, Li R, Liao C, Li DZ. | 06/22/2013 |
| A functional promoter polymorphism of the delta-globin gene is a specific marker of the Arab-Indian haplotype | A functional promoter polymorphism of the δ-globin gene is a specific marker of the Arab-Indian haplotype.
Alsultan A, Ngo DA, Farrell JJ, Akinsheye I, Solovieff N, Ghabbour HA, Al-Ali A, Alsuliman A, Al-Baghshi M, Albu-Ali W, Alabdulaali M, Baldwin CT, Farrer LA, Luo H, Melista E, Safaya S, Nwaru M Jr, Chui DH, Steinberg MH. | 09/29/2012 |
| This report describes a novel missense mutation in delta-globin (HBD: c.323G>A, Gly > Asp) in an Indian family with heterozygous beta-thalassemia with normal HbA(2) levels. | A novel δ-globin gene mutation (HBD: c.323G>A) masking the diagnosis of β-thalassemia: a first report from India.
Jain S, Edison ES, Mathews V, Shaji RV. | 09/8/2012 |
| Family study reporting normal Hemoglobin A expression in a beta-goblin carrier (beta(+) IVSI-5 (G to C) mutation) with microcytosis and hypochromiadue, due to co-inheritance of mutation in the delta-globin gene (delta codon 12 (AAT-->AAA) HbA2-NYU). | First report on the co-inheritance of beta-globin IVS-I-5 (G-->C) thalassemia with delta globin CD12 {Asn-->Lys (AAT-->AAA)}HbA₂-NYU in Iran.
Amirian A, Karimipoor M, Jafarinejad M, Taghavi M, Kordafshari A, Fathi Azar S, Mohammadi MS, Zeinali S. | 05/21/2011 |
| Studies present five new hemoglobin (Hb) variants, Hb Canuts, Hb Ambroise Pare, Hb Beaujolais, Hb Monplaisir and Hb(A2)-North Africa. | Description of two new alpha variants: Hb Canuts [alpha85(F6)Asp-->His (alpha1)] and Hb Ambroise Pare [alpha117(GH5)Phe-->Ile (alpha2)]; two new beta variants: Hb Beaujolais [beta84(EF8)Thr-->Asn] and Hb Monplaisir [beta147 (Tyr-Lys-Leu-Ala-Phe-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-158-COOH)] and one new delta variant: Hb (A2)North Africa [delta59(E3)Lys-->Met].
Joly P, Lacan P, Bererd M, Garcia C, Zanella-Cleon I, Becchi M, Aubry M, Couprie N, Francina A. | 02/15/2010 |
| Data report the study of 23 double heterozygotes for beta- and delta-thalassemia defects or variants. Eight delta-globin and seven beta-globin alleles were detected. All the alleles were associated with RFLP haplotype background. | HbA2-Partinico or delta(A2)Pro-->Thr, a new genetic variation in the delta-globin gene in cis to the beta(+) thal IVS-I-110 G>A, and the heterogeneity of delta-globin alleles in double heterozygotes for beta- and delta-globin gene defects.
Lacerra G, Scarano C, Musollino G, Testa R, Prezioso R, Caruso DG, Lagona LF, Medulla E, Friscia MG, Gaudiano C, Carestia C. | 01/21/2010 |
| Hb A2 IVS-I-5 (G > C) beta-thalassemia mutation phenotype in 289 carriers was reported. | Hematological phenotype of the IVS-I-5 (G > C) beta-thalassemia mutation and assessment of Iran's national screening criteria.
Eshghi P, Rashidi A, Zadeh-Vakili A, Miri-Moghadam E. | 01/21/2010 |
| Borderline HbA(2) is not a rare event in a population with a high prevalence of beta-thalassemia carriers | Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia.
Giambona A, Passarello C, Vinciguerra M, Li Muli R, Teresi P, Anzà M, Ruggeri G, Renda D, Maggio A. | 01/21/2010 |
| Unusually low levels of HBA2 in a compound heterozygote can be explained from the functional inhibition of the HBD gene, in cis to the HBG1 gene, bearing the nd-HPFH mutation. | Compound heterozygosity of non-deletional hereditary persistence of fetal hemoglobin and deltabeta-thalassemia.
Kalamaras A, Chassanidis C, Samara M, Papadakis MN, Vagena A, Aleporou-Marinou V, Patrinos GP, Kollia P. | 01/21/2010 |
| characterization of the delta-globin gene alleles and of RFLP-haplotypes, SNPs and one microsatellite associated with them in 231 carriers originating principally from East Sicily; Seventeen alleles were identified, of which five were new | Molecular evidences of single mutational events followed by recurrent crossing-overs in the common delta-globin alleles in the Mediterranean area.
Lacerra G, Musollino G, Scarano C, Lagona LF, Caruso DG, Testa R, Prezioso R, Di Noce F, Medulla E, Friscia MG, Mastrullo L, Caldora M, Nota L, Gaudiano C, Magnano C, Ciaccio C, Romeo MA, Carestia C. | 01/21/2010 |
| Hb A2-Monreale [delta146(HC3)His-->Arg]is a novel delta chain variant. | Hb A2-Monreale [delta146(HC3)His-->Arg], a novel delta chain variant detected in west Sicily.
De Angioletti M, Di Girgenti C, Messineo R, Capra M, Carestia C. | 01/21/2010 |
| Deletion pf this geneis a common, and possibly the predominant beta-thalassemia mutation of the Austroasiatic Lao Theung population. | The Southeast Asian 12.5 KB (delta-beta) degrees-deletion: a common beta-thalassemia in Mon-Khmer groups (Lao Theung) of South Laos.
Sanguansermsri T, Sengchanh S, Horst D, Eigel A, Flatz G, Horst J. | 01/21/2010 |
| The 5' breakapoint of the (deltabeta)(0) thalassemia deletion in a compound heterozygote was located in the second intron of the delta globin gene. | Molecular characterization of (deltabeta)(0)/beta(0)-thalassemia and (deltabeta)(0)-thalassemia/hemoglobin E in Thai patients.
Fucharoen S, Pengjam Y, Surapot S, Fucharoen G, Sanchaisuriya K. | 01/21/2010 |
| The atomic coordinates of the delta-chain of hemoglobin A2 (R2 state) are used to model the structure of hemoglobin homotetramer delta 4, which occurs in rare hemoglobin H disease. | Crystal structures of HbA2 and HbE and modeling of hemoglobin delta 4: interpretation of the thermal stability and the antisickling effect of HbA2 and identification of the ferrocyanide binding site in Hb.
Sen U, Dasgupta J, Choudhury D, Datta P, Chakrabarti A, Chakrabarty SB, Chakrabarty A, Dattagupta JK. | 01/21/2010 |