| Impact of alpha-Globin Gene Expression and alpha-Globin Modifiers on the Phenotype of beta-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management. | Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management.
Traeger-Synodinos J, Vrettou C, Sofocleous C, Zurlo M, Finotti A, Gambari R, International Hemoglobinopathy Research Network (INHERENT)., Free PMC Article | 04/2/2024 |
| Association of alpha globin gene copy number with exhaled nitric oxide in a cross-sectional study of healthy Black adults. | Association of alpha globin gene copy number with exhaled nitric oxide in a cross-sectional study of healthy Black adults.
Ruhl AP, Jackson JM, Carhuas CJ, Niño de Rivera JG, Fay MP, Weinberg JB, Que LG, Ackerman HC., Free PMC Article | 02/23/2024 |
| Transfusion requirements and complication rate in beta-thalassemia intermedia due to heterozygous beta-globin gene mutation and triplicated alpha-globin genes. | Transfusion requirements and complication rate in β-thalassemia intermedia due to heterozygous β-globin gene mutation and triplicated α-globin genes.
Bonello-Palot N, Benoit A, Agouti I, Hamouda I, Brousse V, NaThalY Network, Badens C. | 10/4/2023 |
| 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 |
| Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family. | Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family.
Tang B, Wang J, Qin D, Yao C, Chen K, Liang L, Chai H, Guo H, Du L. | 08/9/2023 |
| Hematological and molecular characteristics of a novel alpha-globin variant Hb Liangqing (HBA2:c.224A>G). | Hematological and molecular characteristics of a novel α-globin variant Hb Liangqing (HBA2:c.224A>G).
Li Y, Liang S, Liang L, Zheng L, Lu X. | 05/25/2023 |
| Identification of four novel large deletions and complex variants in the alpha-globin locus in Chinese population. | Identification of four novel large deletions and complex variants in the α-globin locus in Chinese population.
Bao X, Wang J, Qin D, Yao C, Liang J, Liang K, Zeng Y, Du L., Free PMC Article | 04/28/2023 |
| Identification of a novel 107 kb deletion in the alpha-globin gene cluster using third-generation sequencing. | Identification of a novel 107 kb deletion in the alpha-globin gene cluster using third-generation sequencing.
Li Y, Liang L, Guo W, Wu X, Qin T, Tian M. | 02/15/2023 |
| First study to describe a novel HbA2: c.400A > C mutation and Hb Dongguan heterozygote in two unrelated Chinese families. | First study to describe a novel HbA2: c.400A > C mutation and Hb Dongguan heterozygote in two unrelated Chinese families.
Yao C, Qin D, Wang J, Bao X, Liang J, Du L. | 08/20/2022 |
| Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand. | Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand.
Phasit A, Panyasai S, Mayoon M, Jettawan N, Satthakarn S., Free PMC Article | 07/2/2022 |
| Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin. | Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin.
Filser M, Gardie B, Wemeau M, Aguilar-Martinez P, Giansily-Blaizot M, Girodon F., Free PMC Article | 02/26/2022 |
| Assessment of Hemoglobin A2 stability at room temperature during 24 or 25 days as measured by high pressure liquid chromatography and capillary electrophoresis. | Assessment of Hemoglobin A2 stability at room temperature during 24 or 25 days as measured by high pressure liquid chromatography and capillary electrophoresis.
Hildrum JM, Fjeld B, Risahagen SM, Bernatek BJ, Klingenberg O. | 12/4/2021 |
| Association of Hb Shenyang [alpha26(B7)Ala-->Glu, GCG>GAG, HBA2: c.80C>A (or HBA1)] with Several Types of alpha-Thalassemia in Thailand. | Association of Hb Shenyang [α26(B7)Ala→Glu, GCG>GAG, HBA2: c.80C>A (or HBA1)] with Several Types of α-Thalassemia in Thailand.
Panyasai S, Kongthai K, Phasit A. | 09/18/2021 |
| Molecular and Hematological Analysis of Alpha- and Beta-Thalassemia in a Cohort of Mexican Patients. | Molecular and Hematological Analysis of Alpha- and Beta-Thalassemia in a Cohort of Mexican Patients.
Rizo-de la Torre LDC, Rentería-López VM, Sánchez-López JY, Magaña-Torres MT, Ibarra-Cortés B, Perea-Díaz FJ. | 09/4/2021 |
| Molecular Characterization and Hematological Aspects of Hb E-Myanmar [beta26(B8)Glu-->Lys and beta65(E9)Lys-->Asn, HBB: c.[79G>A;198G>C]): A Novel beta-Thalassemic Hemoglobin Variant. | Molecular Characterization and Hematological Aspects of Hb E-Myanmar [β26(B8)Glu→Lys and β65(E9)Lys→Asn, HBB: c.[79G>A;198G>C]): A Novel β-Thalassemic Hemoglobin Variant.
Satthakarn S, Boonmee S, Panyasai S. | 07/17/2021 |
| 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 |
| Heterozygosity for the Novel HBA2: c.*91_*92delTA Polyadenylation Site Variant on the alpha2-Globin Gene Expanding the Genetic Spectrum of alpha-Thalassemia in Iran. | Heterozygosity for the Novel HBA2: c.*91_*92delTA Polyadenylation Site Variant on the α2-Globin Gene Expanding the Genetic Spectrum of α-Thalassemia in Iran.
Forouzesh Pour F, Karimi K, Ghaderi Z, Tavakoli Koudehi A, Najmabadi H. | 07/17/2021 |
| alpha-Thalassemia Intermedia Results from Interactions of Unstable Hb Prato [alpha31(B12)Arg-->Ser (HBA1 or HBA2 c.96G>T or C)] with the alpha-Thalassemia-1 [- -(SEA) (Southeast Asian)] Deletion in Thailand. | α-Thalassemia Intermedia Results from Interactions of Unstable Hb Prato [α31(B12)Arg→Ser (HBA1 or HBA2 c.96G>T or C)] with the α-Thalassemia-1 [- -(SEA) (Southeast Asian)] Deletion in Thailand.
Panyasai S, Phasit A. | 07/17/2021 |
| Molecular spectrum of alpha-thalassemia mutations in Erbil province of Iraqi Kurdistan. | Molecular spectrum of α-thalassemia mutations in Erbil province of Iraqi Kurdistan.
Shamoon RP. | 06/5/2021 |
| A Woman with Missing Hb A2 Due to a Novel (epsilongamma)deltabeta(0)-Thalassemia and a Novel delta-Globin Variant Hb A2-Gebenstorf (HBD: c.209G>A). | A Woman with Missing Hb A(2) Due to a Novel (εγ)δβ(0)-Thalassemia and a Novel δ-Globin Variant Hb A(2)-Gebenstorf (HBD: c.209G>A).
Saller E, Knijnenburg J, Harteveld CL, Dutly F. | 06/5/2021 |
| Further Characterization of Hb Bronovo [alpha103(G10)His-->Leu; HBA2: c.311A>T] and First Report of the Homozygous State. | Further Characterization of Hb Bronovo [α103(G10)His→Leu; HBA2: c.311A>T] and First Report of the Homozygous State.
Mehta N, Johnston JM, Hein M, Kipp BR, Coon L, Savedra ME, Hoyer JD, He R, Rangan A, Shi M, Oliveira JL. | 06/5/2021 |
| Association of Hb A2 Variants with Several Forms of alpha- and beta-Thalassemia in Thailand. | Association of Hb A(2) Variants with Several Forms of α- and β-Thalassemia in Thailand.
Panyasai S, Pornprasert S. | 06/5/2021 |
| Hb Westmead (HBA2: c.369C>G): Hematological Characteristics in Heterozygotes with and without alpha(0)-Thalassemia. | Hb Westmead (HBA2: c.369C>G): Hematological Characteristics in Heterozygotes with and without α(0)-Thalassemia.
Jiang F, Ju AP, Li J, Chen GL, Zhou JY, Tang XW, Zuo LD, Li DZ. | 06/5/2021 |
| In Silico Analysis of the Effects of Point Mutations on alpha-Globin: Implications for alpha-Thalassemia. | In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.
Horri-Naceur A, Timson DJ. | 04/17/2021 |
| Hematological Characteristics of Hb Constant Spring (HBA2: c.427T>C) Carriers in Mainland China. | Hematological Characteristics of Hb Constant Spring (HBA2: c.427T>C) Carriers in Mainland China.
Jiang F, Xu LL, Chen GL, Zhou JY, Li J, Tang XW, Zuo LD, Li DZ. | 04/17/2021 |