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			{{SI}}
			{{Infobox medical condition
			\| name = Hemoglobinopathy
			\| image = [[File:Sickle_cells.jpg\|250px]]
			\| caption = Sickle cells, a type of abnormal [[red blood cell]] seen in [[sickle cell disease]], a common hemoglobinopathy
			\| field = [[Hematology]]
			\| symptoms = [[Anemia]], [[fatigue]], [[jaundice]], [[pain crisis]]
			\| complications = [[Stroke]], [[acute chest syndrome]], [[organ damage]]
			\| onset = Varies by type, often in [[childhood]]
			\| duration = [[Chronic condition\|Chronic]]
			\| types = [[Sickle cell disease]], [[thalassemia]], [[hemoglobin C disease]], [[hemoglobin E disease]]
			\| causes = [[Genetic mutation]] in [[hemoglobin]] genes
			\| risks = [[Family history]], [[ethnic background]]
			\| diagnosis = [[Blood test]], [[genetic testing]]
			\| treatment = [[Blood transfusion]], [[hydroxyurea]], [[bone marrow transplant]]
			\| frequency = Common in certain populations, such as those of [[African]], [[Mediterranean]], [[Middle Eastern]], and [[Southeast Asian]] descent
			}}
			[[File:1904 Hemoglobin.jpg\|1904 Hemoglobin\|thumb\|left]]
			[[File:B-Thal.jpg\|B-Thallassemia\|thumb]]
			[[File:Red Blood Cell abnormalities.png\|Red Blood Cell abnormalities\|thumb\|left]]
	'''Hemoglobinopathy''' is a kind of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule. Hemoglobinopathies are inherited single-gene disorders; in most cases, they are inherited as autosomal co-dominant traits.		'''Hemoglobinopathy''' is a kind of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule. Hemoglobinopathies are inherited single-gene disorders; in most cases, they are inherited as autosomal co-dominant traits.
			== Introduction ==
	== ~~Overview~~ ==

	Hemoglobinopathies are often considered as a group, including [[thalassemia]] and [[sickle cell disease]]. They are common genetic disorders in the world, particularly in people of African, Mediterranean, and Southeast Asian ancestry.		Hemoglobinopathies are often considered as a group, including [[thalassemia]] and [[sickle cell disease]]. They are common genetic disorders in the world, particularly in people of African, Mediterranean, and Southeast Asian ancestry.

	== Types of Hemoglobinopathy ==		== Types of Hemoglobinopathy ==

	There are many types of hemoglobinopathy, the most common of which are:		There are many types of hemoglobinopathy, the most common of which are:

	* '''[[Beta thalassemia]]''' - This is caused by reduced (beta+) or absent (beta0) synthesis of the beta globin chains of hemoglobin.		* '''[[Beta thalassemia]]''' - This is caused by reduced (beta+) or absent (beta0) synthesis of the beta globin chains of hemoglobin.
	* '''[[Alpha thalassemia]]''' - This is caused by reduced (alpha+) or absent (alpha0) synthesis of the alpha globin chains of hemoglobin.		* '''[[Alpha thalassemia]]''' - This is caused by reduced (alpha+) or absent (alpha0) synthesis of the alpha globin chains of hemoglobin.
	* '''[[Sickle cell disease]]''' - This is caused by a mutation in the HBB gene on chromosome 11. It is inherited in an autosomal recessive manner.		* '''[[Sickle cell disease]]''' - This is caused by a mutation in the HBB gene on chromosome 11. It is inherited in an autosomal recessive manner.

	== Symptoms ==		== Symptoms ==

	The symptoms of hemoglobinopathy can vary greatly depending on the specific type of disorder. Some people may have no symptoms or mild anemia, while others may have severe symptoms. Common symptoms can include:		The symptoms of hemoglobinopathy can vary greatly depending on the specific type of disorder. Some people may have no symptoms or mild anemia, while others may have severe symptoms. Common symptoms can include:

	* Fatigue and weakness		* Fatigue and weakness
	* Pale or yellowish skin		* Pale or yellowish skin
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	* Delayed growth and development in children		* Delayed growth and development in children
	* Shortness of breath		* Shortness of breath

	== Diagnosis ==		== Diagnosis ==

	Hemoglobinopathies are diagnosed through blood tests that look for abnormal hemoglobin molecules. These tests can include:		Hemoglobinopathies are diagnosed through blood tests that look for abnormal hemoglobin molecules. These tests can include:

	* Complete blood count (CBC)		* Complete blood count (CBC)
	* Hemoglobin electrophoresis		* Hemoglobin electrophoresis
	* Genetic testing		* Genetic testing

	== Treatment ==		== Treatment ==

	Treatment for hemoglobinopathies is aimed at managing symptoms and avoiding complications. This can include:		Treatment for hemoglobinopathies is aimed at managing symptoms and avoiding complications. This can include:

	* Regular blood transfusions		* Regular blood transfusions
	* Medications to reduce pain and prevent complications		* Medications to reduce pain and prevent complications
	* Bone marrow transplant		* Bone marrow transplant

	== See Also ==		== See Also ==

	* [[Anemia]]		* [[Anemia]]
	* [[Genetic disorder]]		* [[Genetic disorder]]
	* [[Blood transfusion]]		* [[Blood transfusion]]
	* [[Bone marrow transplant]]		* [[Bone marrow transplant]]

	== References ==		== References ==

	<references />		<references />

	{{stub}}		{{stub}}

	[[Category:Genetic disorders]]		[[Category:Genetic disorders]]
	[[Category:Hematology]]		[[Category:Hematology]]
	[[Category:Medicine]]		[[Category:Medicine]]
	~~{{dictionary-stub1}}~~
	~~<gallery>~~
	~~File:Sickle cells.jpg\|Sickle cells~~
	~~File:1904 Hemoglobin.jpg\|1904 Hemoglobin~~
	~~File:B-Thal.jpg\|B-Thal~~
	~~File:Red Blood Cell abnormalities.png\|Red Blood Cell abnormalities~~
	~~</gallery>~~

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← Older revision		Revision as of 01:38, 20 February 2025
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	[[Category:Medicine]]		[[Category:Medicine]]
	{{dictionary-stub1}}		{{dictionary-stub1}}
			<gallery>
			File:Sickle cells.jpg\|Sickle cells
			File:1904 Hemoglobin.jpg\|1904 Hemoglobin
			File:B-Thal.jpg\|B-Thal
			File:Red Blood Cell abnormalities.png\|Red Blood Cell abnormalities
			</gallery>

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2024-02-23T11:39:53Z

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New page

'''Hemoglobinopathy''' is a kind of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule. Hemoglobinopathies are inherited single-gene disorders; in most cases, they are inherited as autosomal co-dominant traits.

== Overview ==

Hemoglobinopathies are often considered as a group, including [[thalassemia]] and [[sickle cell disease]]. They are common genetic disorders in the world, particularly in people of African, Mediterranean, and Southeast Asian ancestry.

== Types of Hemoglobinopathy ==

There are many types of hemoglobinopathy, the most common of which are:

* '''[[Beta thalassemia]]''' - This is caused by reduced (beta+) or absent (beta0) synthesis of the beta globin chains of hemoglobin.
* '''[[Alpha thalassemia]]''' - This is caused by reduced (alpha+) or absent (alpha0) synthesis of the alpha globin chains of hemoglobin.
* '''[[Sickle cell disease]]''' - This is caused by a mutation in the HBB gene on chromosome 11. It is inherited in an autosomal recessive manner.

== Symptoms ==

The symptoms of hemoglobinopathy can vary greatly depending on the specific type of disorder. Some people may have no symptoms or mild anemia, while others may have severe symptoms. Common symptoms can include:

* Fatigue and weakness
* Pale or yellowish skin
* Abdominal pain
* Dark urine
* Delayed growth and development in children
* Shortness of breath

== Diagnosis ==

Hemoglobinopathies are diagnosed through blood tests that look for abnormal hemoglobin molecules. These tests can include:

* Complete blood count (CBC)
* Hemoglobin electrophoresis
* Genetic testing

== Treatment ==

Treatment for hemoglobinopathies is aimed at managing symptoms and avoiding complications. This can include:

* Regular blood transfusions
* Medications to reduce pain and prevent complications
* Bone marrow transplant

== See Also ==

* [[Anemia]]
* [[Genetic disorder]]
* [[Blood transfusion]]
* [[Bone marrow transplant]]

== References ==

<references />

{{stub}}

[[Category:Genetic disorders]]
[[Category:Hematology]]
[[Category:Medicine]]
{{dictionary-stub1}}

Hemoglobinopathy - Revision history

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Prab: CSV import