• Source: Hemoglobin subunit alpha

Hemoglobin subunit alpha, Hemoglobin, alpha 1, is a hemoglobin protein that in humans is encoded by the HBA1 gene.




Gene


The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1; this gene) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions.




Protein


Two alpha chains plus two beta chains constitute HbA, which in normal adult life accounts for about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with fetal hemoglobin (HbF), composed of alpha and gamma chains, make up the remaining 3% of adult hemoglobin.




Clinical significance


Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported.




Interactions


Hemoglobin subunit alpha has been shown to interact with hemoglobin subunit beta (HBB).




See also


Hemoglobin subunit beta
Human β-globin locus




References






Further reading






External links


GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia
OMIM entries on Alpha-Thalassemia
Overview of all the structural information available in the PDB for UniProt: P69905 (Hemoglobin subunit alpha) at the PDBe-KB.

Kata Kunci Pencarian:

• INHA
• Protein
• Leukemia mieloid akut
• Hemoglobin subunit alpha
• Hemoglobin subunit beta
• Hemoglobin A
• Hemoglobin, alpha 2
• Fetal hemoglobin
• Hemoglobin
• Hemoglobin variants
• Thalassemia
• HBD
• Hemoglobin subunit zeta