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hemoglobin alpha chain (alpha globin, HBA1, HBA2)

Function: - hemoglobin alpha 1 & alpha 2 chains Structure: - belongs to the globin family - initiator Met is not cleaved in variant thionville & is acetylated Expression: erythrocytes Pathology: - defects in HBA1/HBA2 may be a cause of a) Heinz body anemia b) alpha-thalassemia Laboratory: - HBA1 gene mutation - HBA2 gene mutation - HBA2 gene deletion

Related

alpha-globin gene

General

globin chain

Properties

SIZE: entity length = 142 aa MW = 15 kD MOTIF: lysine residue {12} lysine residue {57} Iron [Fe]-binding site SITE: 59-59 lysine residue {61} Iron [Fe]-binding site SITE: 88-88 lysine residue {91} lysine residue {100}

Database Correlations

OMIM correlations MORBIDMAP correlations UniProt P69905 Pfam PF00042 LOCUS-LINK correlations KEGG correlations

References

  1. Entrez Gene :accession 3039 (HBA1)
  2. Entrez Gene :accession 3040 (HBA2)
  3. UniProt :accession P69905
  4. Hbvar; Human hemoglobin variants and thalassemias http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBA1
  5. Hbvar; Note: Human hemoglobin variants and thalassemias http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBA2
  6. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=HBA1 https://www.genecards.org/cgi-bin/carddisp.pl?gene=HBA2
  7. SHMPD; Singapore human mutation and polymorphism database http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HBA1
  8. Wikipedia; hemoglobin entry http://en.wikipedia.org/wiki/hemoglobin

Component-of

hemoglobin-variant