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	'''Thalassaemia''' is a group of inherited blood disorders that affect [[Haemoglobin\|haemoglobin]], the oxygen-carrying protein inside red blood cells. In thalassaemia, the body makes too little of one of the globin chains needed for normal haemoglobin. This can lead to small red blood cells, [[Anaemia\|anaemia]], iron overload, bone changes, enlarged spleen, and other complications depending on severity.

Thalassemia is a group of inherited blood disorders characterized by abnormal hemoglobin production. Hemoglobin is responsible for carrying oxygen throughout the body. Individuals with thalassemia have a reduced production of normal hemoglobin, leading to various degrees of anemia.
	The condition is commoner in people with family origins from the Mediterranean, the Middle East, south Asia, south-east Asia, and parts of Africa, but it can occur in any population.

== Overview ==
Thalassemia is prevalent in certain regions of the world, including Mediterranean countries, Africa, the Middle East, and Southeast Asia. The severity of thalassemia can vary widely, from mild forms where individuals may experience minimal symptoms to severe forms requiring lifelong medical intervention.
	== Haemoglobin Background ==
	Adult haemoglobin is mainly made from two alpha-globin chains and two beta-globin chains. Alpha thalassaemia affects alpha-globin production. Beta thalassaemia affects beta-globin production.

== Types of Thalassemia ==
Thalassemia is categorized into two main types based on the affected globin chain:
	Reduced globin production disrupts red blood cell development and makes cells more fragile. Severe forms cause lifelong anaemia unless treated.

# Alpha Thalassemia: Alpha thalassemia results from a deficiency or absence of alpha globin chains. It is further classified into four subtypes:
#* Alpha Thalassemia Silent Carrier: Individuals have a single affected gene but usually do not exhibit symptoms.
#* Alpha Thalassemia Trait (Minor): Individuals have two affected genes and may experience mild anemia.
#* Hemoglobin H (HbH) Disease: Individuals have three affected genes, leading to moderate to severe anemia and other complications.
#* Alpha Thalassemia Major (Hydrops Fetalis): This is the most severe form, with all four alpha globin genes affected. It can result in stillbirth or severe anemia in newborns.
# Beta Thalassemia: Beta thalassemia occurs due to a deficiency or absence of beta globin chains. It is further classified into three subtypes:
#* Beta Thalassemia Minor (Trait): Individuals have one affected gene and usually have mild symptoms or are asymptomatic.
#* Beta Thalassemia Intermedia: Individuals have two affected genes, leading to moderate to severe anemia that may require occasional blood transfusions.
#* Beta Thalassemia Major (Cooley's Anemia): Individuals have two affected genes, resulting in severe anemia that requires regular blood transfusions and ongoing medical management.
	== Main Types ==
	The main groups are alpha thalassaemia and beta thalassaemia.

	Alpha thalassaemia varies with how many alpha-globin genes are affected:

	* Silent carrier status usually causes no health problem.
	* Alpha thalassaemia trait may cause small red blood cells and mild anaemia.
	* Haemoglobin H disease can cause moderate or severe anaemia.
	* Alpha thalassaemia major can cause hydrops fetalis and may be fatal before or soon after birth without specialist intervention.

	Beta thalassaemia varies with how much beta-globin is produced:

	* Beta thalassaemia trait usually causes no major illness, though mild anaemia and small red blood cells are common.
	* Beta thalassaemia intermedia causes a variable degree of anaemia and may need intermittent or regular treatment.
	* Beta thalassaemia major is severe and usually needs lifelong specialist care.

== Symptoms ==	== Symptoms ==
The symptoms of thalassemia can vary depending on the type and severity of the condition. Common symptoms may include:
	Symptoms depend on type and severity. Mild carrier states may be discovered only through blood tests.

* Fatigue and weakness
* Pale skin or jaundice (yellowing of the skin and eyes)
* Delayed growth and development in children
* Enlarged spleen or liver
* Facial bone deformities (in severe cases)
	More significant thalassaemia can cause:

	* Tiredness and weakness.
	* Shortness of breath.
	* Pale skin.
	* Jaundice.
	* Poor growth in children.
	* Enlarged spleen or liver.
	* Bone changes in severe untreated disease.
	* Gallstones.
	* Reduced fertility in some people.
	* Complications from iron overload.

	NHS guidance notes that people with serious thalassaemia often develop health problems from a few months after birth, while less severe cases may not be noticed until later childhood or adulthood.

	== Inheritance and Carrier Status ==
	Thalassaemia is inherited. A child is usually at risk of a serious form when both biological parents carry relevant gene changes.

	Carrier status is also called thalassaemia trait or thalassaemia minor. Carriers generally do not develop thalassaemia major themselves. They may have smaller red blood cells and mild anaemia, but this is not the same as iron deficiency anaemia and does not usually need iron unless iron deficiency is also proven.

	Carrier testing matters because two carriers may have a child with a serious haemoglobin disorder. Screening in pregnancy is used in England to identify couples at risk.

== Diagnosis ==	== Diagnosis ==
Diagnosing thalassemia involves a combination of medical history, physical examination, and laboratory tests. Blood tests, such as a complete blood count (CBC) and hemoglobin electrophoresis, can help determine the type and severity of thalassemia.
	Diagnosis may involve:

In some cases, genetic testing may be performed to identify specific mutations in the globin genes and provide more accurate diagnoses.
	* Full blood count.
	* Blood film.
	* Ferritin and iron studies to separate thalassaemia trait from iron deficiency.
	* Haemoglobinopathy screen.
	* Genetic testing, especially for alpha thalassaemia or family planning.
	* Family testing where appropriate.

	Thalassaemia is often detected during pregnancy screening, newborn screening, investigation of anaemia, or family testing.

== Treatment ==	== Treatment ==
The treatment of thalassemia depends on the type and severity of the condition. Mild forms of thalassemia may not require specific treatment, while severe forms necessitate ongoing management. Treatment options include:
	Treatment depends on severity.

* Blood Transfusions: Regular blood transfusions help replenish healthy red blood cells and alleviate anemia in individuals with moderate to severe thalassemia.
* Chelation Therapy: Since frequent blood transfusions can lead to iron overload, chelation therapy may be used to remove excess iron from the body.
* Folic Acid Supplements: Folic acid supplements may be prescribed to support red blood cell production.
* Stem Cell Transplantation: For severe cases of thalassemia, stem cell transplantation (bone marrow transplant) may be considered to replace the faulty cells with healthy ones.
	Mild carrier states may need no treatment. More severe disease may require specialist haematology care, regular blood tests, and monitoring for complications.

== Prognosis ==
The prognosis for individuals with thalassemia varies. Mild forms of thalassemia usually have a good prognosis with a normal life expectancy. However, severe forms of thalassemia may require lifelong medical intervention and close monitoring.
	Treatment for serious thalassaemia can include:

	* Regular blood transfusions to treat and prevent severe anaemia.
	* Iron chelation therapy to remove excess iron from transfusions or increased absorption.
	* Folic acid in selected cases.
	* Treatment of endocrine, bone, liver, heart, or fertility complications.
	* Spleen management where enlargement causes problems.
	* Stem cell or bone marrow transplant in selected patients with a suitable donor.

	GOV.UK patient information states that people with thalassaemia major often need transfusions every 3 to 5 weeks and lifelong chelation to manage iron overload.

	== Outlook ==
	Severe thalassaemia used to be fatal early in life for many patients. Modern transfusion, chelation, monitoring, and specialist care have greatly improved survival and quality of life. The condition can still be serious, especially where iron overload, heart disease, infection, endocrine disease, or access to care is a problem.

== See Also ==	== See Also ==
	* [[Haemoglobin]]
	* [[Anaemia]]
	* [[Red Blood Cells]]
	* [[Sickle Cell Disease]]

* [[Anemia]] - Explore a condition characterized by a deficiency of healthy red blood cells or hemoglobin.
* [[Sickle Cell Disease]] - Learn about an inherited blood disorder affecting the shape and function of red blood cells.
	== References ==
	* [https://www.nhs.uk/conditions/thalassaemia/ NHS: Thalassaemia]
	* [https://www.nhs.uk/conditions/thalassaemia/carriers/ NHS: Thalassaemia carriers]
	* [https://www.gov.uk/government/publications/baby-at-risk-of-having-thalassaemia-description-in-brief/information-and-choices-for-women-and-couples-at-risk-of-having-a-child-with-thalassaemia-major GOV.UK: Information for women and couples at risk of having a child with thalassaemia major]
	* [https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/thalassaemia/ NHS Genomics Education Programme: Thalassaemia]

	[[Category:Medicine]]
	[[Category:Haematology]]
	[[Category:Genetics]]