LP16427-4

Hemoglobin E

Active

Descriptions

An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations. Source: National Library of Medicine, MeSH 2006

Hemoglobin E or haemoglobin 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. HbE is one of the most common variant of normal hemoglobin. Hemoglobin E can be detected on electrophoresis. This hemoglobin variant is very common in Southeast Asia and it has a low frequency in black and white people.

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.

Hemoglobin E disease results when the offspring inherits the gen for HbE from both parents. At birth, babies homozygous for the hemoglobin E allele do not present symptoms due to HbF (fetal hemoglobin) they still have. In the first months of life, fetal hemoglobin disappears and the amount of hemoglobin E increases, so the subjects start to have a mild β thalassemia. People with hemoglobin E do not show any symptoms (there is usually no anemia or hemolysis). Subjects homozygous for the hemoglobin E allele have a mild hemolytic anemia and mild splenomegaly. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

Basic Part Properties

Part Display Name

Hemoglobin E

Part Type

Component (Describes the core component or analyte measured)

Created On

2000-05-04

Construct for LOINC Short Name

Hgb E

LOINC Terminology Service (API) using HL7^® FHIR^® Get Info

Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.

CodeSystem lookup

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP16427-4

Language Variants Get Info

LOINC Copyright

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.