Home
>
Product
>
Antibody
>
Rabbit Anti-Hemoglobin Beta/FITC Conjugated antibody
background:
The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008].
Function:
Involved in oxygen transport from the lung to the various peripheral tissues.
Tissue Specificity:
Red blood cells.
Post-translational modifications:
The initiator Met is not cleaved in variant Thionville and is acetylated.
DISEASE:
Defects in HBA1/HBA2 may be a cause of Heinz body anemias (HEIBAN) [MIM:140700]. This is a form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability.
Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.
Similarity:
Belongs to the globin family.
Database links:
Entrez Gene: 3043 Human
Omim: 141900 Human
SwissProt: P68871 Human
Unigene: 523443 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|