Hemoglobin E: Difference between revisions
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{{Infobox medical condition | |||
| name = Hemoglobin E | |||
| image = [[File:Hemoglobin_E_(Glu26Lys)_1yvt.png|alt=Hemoglobin E structure]] | |||
| caption = Structure of Hemoglobin E | |||
| field = [[Hematology]] | |||
| symptoms = [[Mild anemia]], [[fatigue]], [[splenomegaly]] | |||
| complications = [[Hemolytic anemia]], [[thalassemia]] | |||
| onset = [[Birth]] | |||
| duration = [[Lifelong]] | |||
| types = [[Hemoglobinopathy]] | |||
| causes = [[Genetic mutation]] in the [[HBB gene]] | |||
| risks = [[Southeast Asian]] descent | |||
| diagnosis = [[Blood test]], [[hemoglobin electrophoresis]] | |||
| differential = [[Thalassemia]], [[Iron deficiency anemia]] | |||
| prevention = [[Genetic counseling]] | |||
| treatment = [[Folic acid supplementation]], [[blood transfusion]] | |||
| frequency = Common in [[Southeast Asia]] | |||
}} | |||
[[File:Aminoacid chain normal Hb and HbE.pdf|Amino acid chain normal Hb and HbE|thumb|left]] | |||
[[File:HbE betaThalassemia trait.pdf|HbE beta Thalassemia trait|thumb]] | |||
[[File:Red Blood Cell abnormalities.png|Red Blood Cell abnormalities|thumb|left]] | |||
'''Hemoglobin E''' ('''HbE''') is an abnormal form of [[hemoglobin]], a protein found in [[red blood cells]] that carries oxygen throughout the body. This variant of hemoglobin is most commonly found in individuals of Southeast Asian descent, including those from Thailand, Cambodia, and Laos. Hemoglobin E is caused by a mutation in the [[beta globin]] gene, which is one of the two genes that encode the protein subunits of hemoglobin. | '''Hemoglobin E''' ('''HbE''') is an abnormal form of [[hemoglobin]], a protein found in [[red blood cells]] that carries oxygen throughout the body. This variant of hemoglobin is most commonly found in individuals of Southeast Asian descent, including those from Thailand, Cambodia, and Laos. Hemoglobin E is caused by a mutation in the [[beta globin]] gene, which is one of the two genes that encode the protein subunits of hemoglobin. | ||
==Structure and Function== | ==Structure and Function== | ||
Hemoglobin E is structurally similar to normal hemoglobin, but it has a single amino acid substitution in the beta globin chain. This substitution results in a change in the protein's structure, which can affect its function. Despite this, individuals with hemoglobin E typically do not experience any symptoms or health problems related to the mutation. | Hemoglobin E is structurally similar to normal hemoglobin, but it has a single amino acid substitution in the beta globin chain. This substitution results in a change in the protein's structure, which can affect its function. Despite this, individuals with hemoglobin E typically do not experience any symptoms or health problems related to the mutation. | ||
==Genetics== | ==Genetics== | ||
Hemoglobin E is inherited in an [[autosomal recessive]] manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to have the condition. Those who inherit only one copy of the mutated gene are carriers and typically do not experience any health problems. | Hemoglobin E is inherited in an [[autosomal recessive]] manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to have the condition. Those who inherit only one copy of the mutated gene are carriers and typically do not experience any health problems. | ||
==Clinical Significance== | ==Clinical Significance== | ||
While individuals with hemoglobin E typically do not experience any symptoms, those who inherit two different abnormal hemoglobin genes (one for hemoglobin E and one for another variant, such as [[hemoglobin S]] or [[beta thalassemia]]) can have a more severe condition known as [[Hemoglobin E/beta thalassemia]]. This condition can cause a range of symptoms, including anemia, enlarged spleen, and skeletal deformities. | While individuals with hemoglobin E typically do not experience any symptoms, those who inherit two different abnormal hemoglobin genes (one for hemoglobin E and one for another variant, such as [[hemoglobin S]] or [[beta thalassemia]]) can have a more severe condition known as [[Hemoglobin E/beta thalassemia]]. This condition can cause a range of symptoms, including anemia, enlarged spleen, and skeletal deformities. | ||
==Diagnosis and Treatment== | ==Diagnosis and Treatment== | ||
Hemoglobin E can be diagnosed through a blood test that measures the types of hemoglobin present. Treatment is typically not necessary for individuals with hemoglobin E, unless they also have another hemoglobin disorder. | Hemoglobin E can be diagnosed through a blood test that measures the types of hemoglobin present. Treatment is typically not necessary for individuals with hemoglobin E, unless they also have another hemoglobin disorder. | ||
==See Also== | ==See Also== | ||
* [[Hemoglobinopathies]] | * [[Hemoglobinopathies]] | ||
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* [[Hemoglobin S]] | * [[Hemoglobin S]] | ||
* [[Beta thalassemia]] | * [[Beta thalassemia]] | ||
[[Category:Hemoglobinopathies]] | [[Category:Hemoglobinopathies]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Blood disorders]] | [[Category:Blood disorders]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 00:01, 10 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Hemoglobin E | |
|---|---|
_1yvt.png)
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Mild anemia, fatigue, splenomegaly |
| Complications | Hemolytic anemia, thalassemia |
| Onset | Birth |
| Duration | Lifelong |
| Types | Hemoglobinopathy |
| Causes | Genetic mutation in the HBB gene |
| Risks | Southeast Asian descent |
| Diagnosis | Blood test, hemoglobin electrophoresis |
| Differential diagnosis | Thalassemia, Iron deficiency anemia |
| Prevention | Genetic counseling |
| Treatment | Folic acid supplementation, blood transfusion |
| Medication | N/A |
| Prognosis | N/A |
| Frequency | Common in Southeast Asia |
| Deaths | N/A |
File:Aminoacid chain normal Hb and HbE.pdf
File:HbE betaThalassemia trait.pdf
Hemoglobin E (HbE) is an abnormal form of hemoglobin, a protein found in red blood cells that carries oxygen throughout the body. This variant of hemoglobin is most commonly found in individuals of Southeast Asian descent, including those from Thailand, Cambodia, and Laos. Hemoglobin E is caused by a mutation in the beta globin gene, which is one of the two genes that encode the protein subunits of hemoglobin.
Structure and Function[edit]
Hemoglobin E is structurally similar to normal hemoglobin, but it has a single amino acid substitution in the beta globin chain. This substitution results in a change in the protein's structure, which can affect its function. Despite this, individuals with hemoglobin E typically do not experience any symptoms or health problems related to the mutation.
Genetics[edit]
Hemoglobin E is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to have the condition. Those who inherit only one copy of the mutated gene are carriers and typically do not experience any health problems.
Clinical Significance[edit]
While individuals with hemoglobin E typically do not experience any symptoms, those who inherit two different abnormal hemoglobin genes (one for hemoglobin E and one for another variant, such as hemoglobin S or beta thalassemia) can have a more severe condition known as Hemoglobin E/beta thalassemia. This condition can cause a range of symptoms, including anemia, enlarged spleen, and skeletal deformities.
Diagnosis and Treatment[edit]
Hemoglobin E can be diagnosed through a blood test that measures the types of hemoglobin present. Treatment is typically not necessary for individuals with hemoglobin E, unless they also have another hemoglobin disorder.
See Also[edit]
