Crystal structure of Hemoglobin E mutant (Glu26Lys) PDB entry 1vyt. Alpha chain in pink, beta chain in red. The lysine mutation highlighted as white spheres.
Specialty
Hematology
Hemoglobin E (HbE) is an abnormal hemoglobin with a single point mutation in the β chain. At position 26 there is a change in the amino acid, from glutamic acid to lysine (E26K). Hemoglobin E is very common among people of Southeast Asian, Northeast Indian, Sri Lankan and Bangladeshi descent.[1][2]
The βE mutation affects β-gene expression creating an alternate splicing site in the mRNA at codons 25-27 of the β-globin gene. Through this mechanism, there is a mild deficiency in normal β mRNA and production of small amounts of anomalous β mRNA. The reduced synthesis of β chain may cause β-thalassemia. Also, this hemoglobin variant has a weak union between α- and β-globin, causing instability when there is a high amount of oxidant.[3] HbE can be detected on electrophoresis.
^"Hemoglobin e Trait - Health Encyclopedia - University of Rochester Medical Center".
^"Archived copy" (PDF). Archived from the original (PDF) on 2014-06-24. Retrieved 2017-06-08.{{cite web}}: CS1 maint: archived copy as title (link)
^Chernoff AI, Minnich V, Nanakorn S, et al. (1956). "Studies on hemoglobin E. I. The clinical, hematologic, and genetic characteristics of the hemoglobin E syndromes". J Lab Clin Med. 47 (3): 455–489. PMID 13353880.
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