HBD Antibody

1. Blood donor homozygous for Hb D Los Angeles. PMID: 25217459
2. 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. PMID: 23872310
3. Data indicate that a delta-globin mutation was suspected in both patients. PMID: 23806011
4. Twenty-one different mutations were detected, and of these 12 have not been previously described. PMID: 23215833
5. A functional promoter polymorphism of the delta-globin gene is a specific marker of the Arab-Indian haplotype PMID: 22641479
6. 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. PMID: 22477537
7. The 5' breakapoint of the (deltabeta)(0) thalassemia deletion in a compound heterozygote was located in the second intron of the delta globin gene. PMID: 11860449
8. Hb A2-Monreale [delta146(HC3)His-->Arg]is a novel delta chain variant. PMID: 11939506
9. alternate mRNA species in adult erythroid cells; mRNA encodes an additional 145 nt in the upstream untranslated region, suggesting an alternative site of transcriptional initiation and transcription through the previously defined promoter PMID: 15234005
10. 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. PMID: 15449937
11. Deletion pf this geneis a common, and possibly the predominant beta-thalassemia mutation of the Austroasiatic Lao Theung population. PMID: 15757827
12. 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 PMID: 18221842
13. Borderline HbA(2) is not a rare event in a population with a high prevalence of beta-thalassemia carriers PMID: 18603555
14. 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. PMID: 18615450
15. Hb A2 IVS-I-5 (G > C) beta-thalassemia mutation phenotype in 289 carriers was reported. PMID: 18932068

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HGNC: 4829

OMIM: 142000

KEGG: hsa:3045

STRING: 9606.ENSP00000369654

UniGene: Hs.699280