What is Thalassemia?

People with thalassemia do not produce enough hemoglobin, a protein that binds to iron within red blood cells and helps circulate oxygen throughout the body.

Low hemoglobin and low red blood cell count can lead to symptoms of anemia such as fatigue and shortness of breath. People with thalassemia may also develop other health problems, such as slow growth, facial bone deformities, and an enlarged spleen, liver, or heart.^[1] Read more about hemoglobin levels »

Thalassemia is an umbrella term for a group of genetic disorders involving defects in the proteins that make up hemoglobin. Normal hemoglobin has four protein chains, two known as alpha-globin and two known as beta-globin. The two main types of thalassemia, alpha, and beta are named after hereditary defects in these protein chains. Each of these types has further subtypes. Read more about the causes of thalassemia »

Depending on which part of the hemoglobin protein is affected, thalassemia can vary from a mild condition to a serious or life-threatening condition that requires long-term treatment and management.

Thalassemia is not caused by any environmental factors, and it is not possible to catch it.^[2] The disorder is most common in people of Mediterranean, South Asian, Southeast Asian, and Middle Eastern origin.^[3]

Symptoms

The symptoms of thalassemia are wide-ranging and vary according to the type of thalassemia a person has.

Those with thalassemia trait, also known as thalassemia carriers, will usually have no symptoms, or possibly mild anemia.

Symptoms of thalassemia may include:^[1][2]

Anemia

Anemia refers to a lack of red blood cells or hemoglobin in the blood. It develops in almost everyone with thalassemia major and other serious types of the disorder. In severe cases, it can be life-threatening.

Anemia results in a lack of oxygen being available to the body. Typical symptoms include:

• Tiredness and lethargy
• Breathlessness
• Faintness
• Headaches

Read more about Anemia »

Excess iron levels

Most people with thalassemia major or other severe types of the disorder will be at risk for what is known as iron overload. This is a possible side-effect of repeated blood transfusions, a necessary part of treatment for people with severe thalassemia. However, it can also occur on its own.

Excessive levels of iron in the body can cause:^[4]

• Heart problems
• Hormone problems, including diabetes, thyroid, adrenal and pituitary disorders
• Liver cirrhosis
• Delayed puberty in children

Signs and symptoms of thalassemia in infants

As a genetic disorder, thalassemia is present from birth, but will generally not begin to cause symptoms immediately.

Children born with beta-thalassemia major usually develop symptoms a few months after birth.

Less severe cases may not cause any noticeable symptoms until later in childhood, or sometimes until adulthood.

Early signs and symptoms that may indicate the presence of thalassemia in babies include:^[5]

• Fatigue, fussiness and irritability
• Shortness of breath
• Pale skin
• Yellow skin and eyes, known as jaundice
• Protruding abdomen
• Dark urine
• Facial bone deformities
• Slow growth

If you think you or your child may have thalassemia, try the Adoctor conditions and symptoms for a free symptom assessment.

Causes

Genes contain the instructions needed to make proteins in the body. Genes come in pairs, with one set inherited from the mother and one set inherited from the father. For the hemoglobin protein, two normal genes – one from each parent – are required to make healthy beta chains.

If a person inherits two faulty beta-thalassemia genes, that person will develop beta-thalassemia major, also known as Cooley’s disease. Babies with this condition will often seem healthy at first, but usually develop symptoms of thalassemia within the first two years of life. It is typically a serious and lifelong condition, requiring long-term treatment and management.

If a person inherits only one faulty beta-thalassemia gene they will have beta thalassemia trait and become a carrier of thalassemia disease. They will generally be healthy or sometimes have mild anemia. However, they are at risk of passing on more severe thalassemia to their children.

Thalassemia intermedia is used to describe the disorder that occurs when a person has inherited two faulty beta genes, but the faults are less severe than in beta-thalassemia major. People with this condition usually have moderately severe anemia and sometimes require blood transfusions.

Four normal genes – two from each parent – are required to make healthy alpha chains, so alpha thalassemia involves four potentially faulty genes, rather than just two.

A person who inherits one or two faulty alpha genes will have alpha thalassemia trait, meaning they are a thalassemia carrier, but do not themselves experience symptoms, except sometimes slight anemia.

If they inherit three faulty alpha thalassemia genes, they will develop hemoglobin H disease, with moderate to severe symptoms.

With four faulty genes, alpha thalassemia major will occur, characterized by hydrops fetalis, in which excess fluid builds up in a baby’s body before birth, along with other physical abnormalities. Untreated alpha thalassemia major is almost always fatal, with a baby dying before delivery or shortly after birth. However, it can be diagnosed prenatally, and, if treatment is begun before the baby is born, they can survive.^[6] A specialist team will counsel the family about what treatment options may be suitable for their baby.

Women who are pregnant with babies that have inherited alpha thalassemia can also experience serious complications, including dangerously high blood pressure, premature delivery, and abnormal bleeding.^[7]

How thalassemia is diagnosed

Thalassemia is normally diagnosed following blood tests. To make the diagnosis, a blood sample will be taken and analyzed in order to establish what type of hemoglobin is present. Occasionally, if the results prove inconclusive or there is any uncertainty, DNA tests may also be carried out.^[8]

Read more about Blood Test Results »

Other conditions may present with similar symptoms, such as iron deficiency, vitamin B12 deficiency, erythropoietin deficiency, a bone marrow disorder called Diamond-Blackfan syndrome, and acute leukemia. It is important to identify the cause of a person’s symptoms, as each condition has different clinical consequences and treatment considerations. For instance, iron-deficiency anemia is usually treated with iron supplements, but it can be harmful to a person with thalassemia to take extra iron.

Moderate and severe thalassemias are usually diagnosed in early childhood, because the symptoms, such as severe anemia, will occur within the first few years of life.

Those who have milder forms might be diagnosed after a routine blood test shows anemia. A doctor may suspect thalassemia if a person is a member of an ethnic group that is at increased risk.^[9]

If you think you or your child may have thalassemia, try the Adoctor conditions and symptoms for a free symptom assessment.

Prenatal thalassemia diagnosis

It is possible to find out if an unborn child is affected by thalassemia. This is usually done using tissue from the placenta, or amniotic fluid from the sac surrounding the embryo, and can be carried out from around 8 to 10 weeks into the course of a pregnancy.^[5]

Blood tests can show whether a couple both have thalassemia traits and if a future child could therefore inherit thalassemia.

Diagnosing thalassemia in newborn babies

If thalassemia is present, it will often be detected in a newborn baby as part of routine postnatal screening processes in many countries. A blood sample will be collected from a simple heel prick and sent to a laboratory for testing.

If the results return positive for thalassemia, the parents will have treatment options explained to them.

Postnatal tests will also be able to show whether or not a newborn has a thalassemia trait. This is important, as it may increase the chances of a future sibling or the child’s future children inheriting the disorder.^[1]

Treatment

A number of treatment methods are available to manage the symptoms of thalassemia and prevent complications. However, the disorder usually cannot be cured and will require lifelong treatment in cases of thalassemia major or intermedia.

People with thalassemia major will be treated by a specialist and will be asked to attend check-ups at regular intervals.

Maintaining a healthy lifestyle is an important principle of managing thalassemia. This will typically involve:^[2]

Avoiding tobacco and excess alcohol to keep the bones and heart-healthy

Regular exercise to help strengthen bones and reduce the risk of osteoporosis

Good nutrition and supplements help prevent common deficiencies seen in people with thalassemia, such as taking folic acid to aid the body in its production of red blood cells, and calcium and vitamin D for bone health.

Thalassemia minor is often mistaken for iron deficiency anemia and is treated with iron supplements. However, people with anemia from thalassemia trait should not take iron supplements unless a blood test shows they have coexistent iron deficiency.

Besides these general principles above, there are two main treatments for thalassemia:

• Blood transfusions
• Chelation treatment

Blood transfusions

Blood transfusions are typically given to people with anemia accompanied by other complications, such as poor growth, enlarged spleen, or evidence of heart disease, as well as in the case of pregnancy.^[10] Blood transfusions have associated risks and are only carried out when absolutely necessary, so those who have anemia without other symptoms may be advised against a transfusion.^[11]

Blood transfusions supply normal red blood cells to the affected person. This corrects the anemia temporarily, improving health and helping children to grow normally. However, the red blood cells have a limited lifespan, so the transfusion is normally repeated every three or four weeks.

Chelation therapy

People with moderate to severe thalassemia can experience iron building up to unhealthy levels in the body. This happens partly because of blood transfusions, but also because thalassemia causes the body to absorb more iron than normal from food. This can cause damage to internal organs and other potentially life-threatening complications.

Chelation treatment gets rid of excess iron from the body. Medication is given orally or via a drip. Once in the bloodstream, the chemical properties of the medication allow it to bind to excess iron. The medication and excess iron is then excreted from the body in urine or stools. Chelation therapy is usually begun within a year or two of beginning blood transfusions.^[12]

Stem cell transplants

A stem cell transplant is a possible cure for thalassemia, though there are risks of serious complications and even mortality. Stem cell transplants tend to have a better outcome in younger people.^[13] This therapy may be considered for a person who has a suitable donor.

A stem cell transplant involves the administration of high-dose chemotherapy to eliminate thalassemia-producing cells in the bone marrow, and subsequent replacement with normal blood-making cells from a donor, resulting in a lifelong cure if successful.

Complications

There are various complications that can occur as a result of thalassemia. These may include:

Growth and development problems

Children and adolescents with thalassemia may experience unusual bone growth as the bone marrow expands to try and make more blood cells, such as:

• An enlarged forehead or cheeks
• Thinning of the bones, known as osteoporosis

Puberty may be delayed or progress abnormally in teenagers with thalassemia, due to iron build up impairing the function of the pituitary gland. This may lead to complications such as:

• Absence of menstruation, known as amenorrhea
• Diminished functioning of the sex organs, known as hypogonadism
• Short stature

Doctors will monitor childhood development closely and may suggest hormone replacement therapy where necessary.^[14]

Spleen problems

Anemia can cause the spleen to become enlarged, which, through various mechanisms, may actually make the anemia even worse. Some people with thalassemia will need to have an operation to remove their spleen. The spleen is a key part of the immune system and, if it is removed, a person will need immunizations and daily antibiotics to protect against certain infections such as pneumonia and meningitis.^[15]

Other complications

Other possible complications include:^[2]

• Reduced fertility
• Blood transfusion complications, such as immune reactions and transmission of hepatitis
• Chelation complications, affecting the blood, liver, kidneys, vision, hearing and bones
• Infections
• Gallstones see symptomatic cholelithiasis

FAQs

Other names for thalassemia

Alpha (α) thalassemias

• Hb Barts
• Hemoglobin (Hb) Barts Hydrops Fetalis Syndrome (BHFS)
• Homozygous α0-thalassemia major
• Homozygous α-thalassemia 1
• Alpha thalassemia minor
• Silent alpha thalassemia carrier
• Hemoglobin H disease (HbH disease)

Beta (ß) thalassemias

• Cooley’s anemia
• Beta-zero (ß0) thalassemia
• Beta-plus (ß+) thalassemia
• Mediterranean anemia
• Beta thalassemia minor (beta thalassemia trait)
• Beta thalassemia intermedia

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1. NHLBI. “Thalassemias.” 9 December 2014. Accessed 9 April 2018. ↩ ↩ ↩

2. Patient.info. “What is thalassaemia? | Causes and Types.” Accessed 9 April 2018. ↩ ↩ ↩ ↩

3. NHS. “Thalassaemia.” Accessed 9 April 2018. ↩

4. patient.info. “Thalassaemia | Doctor.” 26 January 2015. Accessed 15 April 2018. ↩

5. Kids Health. “Beta Thalassemia.” Accessed 15 April 2018. ↩ ↩

6. Kids Health. “Alpha Thalassemia.” Accessed 9 April 2018. ↩

7. Genetics Home Reference. “Alpha thalassemia.” Accessed 9 April 2018. ↩

8. Northern California Comprehensive Thalassemia Center. “Testing for Thalassemia Trait.” Accessed 9 April 2018. ↩

9. NHLBI. “Thalassemias – How Are Thalassemias Diagnosed?” Accessed 9 April 2018. ↩

10. Wiley Online Library. “When to consider transfusion therapy.” 7 Oct. 2014. Accessed 22 Apr. 2018. ↩

11. Northern California Comprehensive Thalassemia Center. “Treatment of Thalassemia: Transfusion.” Accessed 16 April 2018. ↩

12. NCBI. “Iron Overload and Chelation.” Accessed 16 April 2018. ↩

13. Northern California Comprehensive Thalassemia Center. “Thalassemia.com: Bone Marrow Transplantation.” Accessed 16 April 2018. ↩ ↩

14. NCBI. “Growth and puberty and its management in thalassaemia.” Accessed 16 April 2018. ↩

15. NHS. “Spleen problems and spleen removal.” Accessed 16 April 2018. ↩

16. Genetic and Rare Diseases Information Center. “Sickle beta thalassemia.”. Accessed 22 November 2018. ↩

17. NCBI. “The history of thalassemia.”. Accessed 22 November 2018. ↩

**What‍ is Thalassemia?**



**Understanding⁣ Thalassemia**



**Q: What is Thalassemia?**



**A:** Thalassemia is a ⁢blood disorder that results from the body’s inability to produce enough hemoglobin, the protein in red blood cells responsible ‍for carrying oxygen. This deficiency leads to reduced oxygen delivery to the body’s tissues⁢ and organs.



**Types of Thalassemia**



**Q:‌ What are the different types‌ of Thalassemia?**



**A:** Thalassemia is classified into two main⁢ types:



* **Alpha Thalassemia:** Caused by mutations⁣ in ​genes encoding ⁢the alpha globin chain of hemoglobin.

*​ **Beta Thalassemia:** Caused by mutations in⁤ genes encoding the beta globin chain of hemoglobin.



**Causes and Risk Factors**



**Q: ​What causes Thalassemia?**



**A:**⁣ Thalassemia is⁣ primarily⁤ caused by genetic mutations inherited from both parents. These ⁤mutations prevent the proper production of alpha or beta‌ globin chains, ⁤leading to hemoglobin synthesis defects.



**Q: Who is at ⁣risk of developing Thalassemia?**



**A:**⁢ Thalassemia is prevalent in certain regions of ⁤the world, including:



* Mediterranean countries

* Southeast Asia

* Middle ‍East

*⁢ Africa



People⁤ with family ​members who‍ have Thalassemia are at a higher risk of inheriting the condition.



**Symptoms of Thalassemia**



**Q: What are the⁤ symptoms of Thalassemia?**



**A:** Symptoms of⁣ Thalassemia vary depending‌ on the severity of the condition:



* Mild Cases: No symptoms or mild anemia

* Moderate Cases: ⁤Fatigue, ⁤weakness, pale skin

* Severe Cases: Heart problems, enlarged‌ spleen and liver, bone ⁢deformations



**Diagnosis ‍and Treatment**



**Q: How is Thalassemia‍ diagnosed?**



**A:** Thalassemia is diagnosed ⁢through a blood test ⁢that measures ⁢hemoglobin levels and identifies abnormal hemoglobin patterns.



**Q: How is Thalassemia treated?**



**A:** Treatment⁢ options for Thalassemia⁤ depend on the severity of the condition:



* ​Mild​ Cases: May ⁤not require treatment

* Moderate Cases: Medications,⁢ such ‍as ‍folic acid ‍and hydroxyurea

* Severe Cases: Blood transfusions, bone marrow⁢ transplant



**Prognosis and Outlook**



**Q: What is the prognosis for people with⁤ Thalassemia?**



**A:** The prognosis for​ people with ‌Thalassemia varies depending on the ⁣severity‍ of the condition. With proper care and treatment, ‍many individuals can live ‌healthy, fulfilling lives.