Thalassemia

Issue

Vol. 2 No. 1 (2025)

Date Log

Submitted
September 1, 2024
Accepted
February 6, 2025
Published
February 6, 2025

Thalassemia -Types, Risk Factors, Symptoms, Diagnosis and Treatment

https://doi.org/10.69512/ajphi.v2i1.67
Prabha Bhandari
Kathmandu University School of Medical Sciences, Dhulikhel, Nepal
Lumanti Manandhar
Rajiv Gandhi University of Health Sciences, Banglore, India
Dipendra Kandel
Gandaki Medical College Teaching Hospital and Research Center, Pokhara, Nepal

Corresponding Author(s) : Prabha Bhandari

bhandariprabha991@gmail.com

The American Journal of Patient Health Info, Vol. 2 No. 1 (2025)

Abstract


  • Thalassemia is a group of inherited hemoglobin disorders that affect red blood cells' ability to transport oxygen due to insufficient production of alpha or beta-globin proteins.

  • Symptoms of thalassemia vary based on severity, ranging from none to severe anemia, fatigue, enlarged organs, and bone deformities, with severe forms potentially causing heart and liver diseases, infections, and osteoporosis.

  • Thalassemias cannot be prevented but can be identified through prenatal testing and family genetic studies.

  • Repeated blood transfusions can cause iron overload, necessitating iron chelation therapy for those undergoing treatment with blood transfusion.

  • If you have thalassemia and are considering pregnancy, it's important to seek genetic counseling and explore potential fertility treatments.

Keywords

Anemia Hemoglobinopathies Iron overload Thalassemia Chelation therapy
Bhandari, P., Manandhar, L., & Kandel, D. (2025). Thalassemia -Types, Risk Factors, Symptoms, Diagnosis and Treatment. The American Journal of Patient Health Info, 2(1). https://doi.org/10.69512/ajphi.v2i1.67
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References
  1. De Simone G, Quattrocchi A, Mancini B, Di Masi A, Nervi C, Ascenzi P. Thalassemias: from gene to therapy. Molecular Aspects of Medicine [Internet]. 2022 Apr 1;84:101028. Available from: https://doi.org/10.1016/j.mam.2021.101028
  2. Baird DC, Batten SH, Sparks SK. Alpha- and Beta-thalassemia: Rapid Evidence Review. Am Fam Physician. 2022;105(3):272-280. Available from: Alpha- and Beta-thalassemia: Rapid Evidence Review | AAFP
  3. Kattamis A, Kwiatkowski JL, Aydinok Y. Thalassaemia. The Lancet [Internet]. 2022 Jun 1;399(10343):2310–24. Available from: https://doi.org/10.1016/s0140-6736(22)00536-0
  4. Lee JS, Rhee TM, Jeon K, Cho Y, Lee SW, Han KD, et al. Epidemiologic Trends of Thalassemia, 2006–2018: A Nationwide Population-Based Study. Journal of Clinical Medicine [Internet]. 2022 Apr 20;11(9):2289. Available from: https://doi.org/10.3390/jcm11092289
  5. Abu-Shaheen A, Heena H, Nofal A, Abdelmoety DA, Almatary A, Alsheef M, et al. Epidemiology of Thalassemia in Gulf Cooperation Council Countries: A Systematic review. BioMed Research International [Internet]. 2020 Oct 28;2020:1–15. Available from: https://doi.org/10.1155/2020/1509501
  6. Lal A, Vichinsky E. The clinical phenotypes of alpha thalassemia. Hematology/Oncology Clinics of North America [Internet]. 2023 Apr 1;37(2):327–39. Available from: https://doi.org/10.1016/j.hoc.2022.12.004
  7. Beta thalassemia: MedlinePlus Genetics [Internet]. Available from: https://medlineplus.gov/genetics/condition/beta-thalassemia/
  8. Beta thalassemia - Symptoms, causes, treatment | NORD [Internet]. National Organization for Rare Disorders. Available from: https://rarediseases.org/rare-diseases/thalassemia-major/
  9. 9.Galanello R, Origa R. Beta-thalassemia. Orphanet Journal of Rare Diseases [Internet]. 2010 May 21;5(1). Available from: https://doi.org/10.1186/1750-1172-5-11
  10. 10.Risoluti R, Materazzi S, Sorrentino F, Bozzi C, Caprari P. Update on thalassemia diagnosis: New insights and methods. Talanta [Internet]. 2018 Jun 1;183:216–22. Available from: https://doi.org/10.1016/j.talanta.2018.02.071
  11. Long J, Yu C, Sun L, Peng M, Song C, Mao A, et al. Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening. Clinica Chimica Acta [Internet]. 2024 May 23;560:119749. Available from: https://pubmed.ncbi.nlm.nih.gov/38796052/
  12. Aliyeva G, Asadov C, Mammadova T, Gafarova S, Abdulalimov E. Thalassemia in the laboratory: pearls, pitfalls, and promises. Clinical Chemistry and Laboratory Medicine (CCLM) [Internet]. 2018 Aug 23;57(2):165–74. Available from: https://doi.org/10.1515/cclm-2018-0647
  13. Mensah C, Sheth S. Optimal strategies for carrier screening and prenatal diagnosis of α- and β-thalassemia. Hematology [Internet]. 2021 Dec 10;2021(1):607–13. Available from: https://doi.org/10.1182/hematology.2021000296
  14. Li DZ, Yang YD. Invasive prenatal diagnosis of fetal thalassemia. Best Practice & Research Clinical Obstetrics & Gynaecology [Internet]. 2017 Feb 1;39:41–52. Available from: https://doi.org/10.1016/j.bpobgyn.2016.10.011
  15. Charoenkwan P, Traisrisilp K, Sirichotiyakul S, Phusua A, Sanguansermsri T, Tongsong T. Noninvasive prenatal diagnosis of Beta-Thalassemia disease by using digital PCR analysis of Cell-Free fetal DNA in maternal plasma. Fetal Diagnosis and Therapy [Internet]. 2022 Jan 1;49(11–12):468–78. Available from: https://pubmed.ncbi.nlm.nih.gov/36574763/
  16. Constantinou CG, Karitzi E, Byrou S, Stephanou C, Michailidou K, Makariou C, et al. Optimized Droplet Digital PCR assay on Cell-Free DNA samples for Non-Invasive Prenatal Diagnosis: Application to Beta-Thalassemia. Clinical Chemistry [Internet]. 2022 May 2;68(8):1053–63. Available from: https://pubmed.ncbi.nlm.nih.gov/35652459/
  17. 17.Shah FT, Sayani F, Trompeter S, Drasar E, Piga A. Challenges of blood transfusions in β-thalassemia. Blood Reviews [Internet]. 2019 Sep 1;37:100588. Available from: https://doi.org/10.1016/j.blre.2019.100588
  18. Baghersalimi A, Kolachahi HH, Darbandi B, Mavardiani ZK, Alinodehi MA, Dalili S, et al. Assessment of serum folic acid and homocysteine in thalassemia major patients before and after folic acid supplement cessation. Journal of Pediatric Hematology/Oncology [Internet]. 2018 Oct 1;40(7):504–7. Available from: https://doi.org/10.1097/mph.0000000000001295
  19. Langer AL, Esrick EB. β-Thalassemia: evolving treatment options beyond transfusion and iron chelation. Hematology [Internet]. 2021 Dec 10;2021(1):600–6. Available from: https://doi.org/10.1182/hematology.2021000313
  20. Yasara N, Wickramarathne N, Mettananda C, Silva I, Hameed N, Attanayaka K, et al. A randomised double-blind placebo-controlled clinical trial of oral hydroxyurea for transfusion-dependent β-thalassaemia. Scientific Reports [Internet]. 2022 Feb 17;12(1). Available from: https://doi.org/10.1038/s41598-022-06774-8
  21. Nutrition [Internet]. Northern California Comprehensive Thalassemia Center. Available from: https://thalassemia.ucsf.edu/nutrition#:~:text=For%20nontransfused%20thalassemia%20patients%2C%20folate,excessive%20consumption%20of%20red%20meat.
  22. Langer AL. Beta-Thalassemia [Internet]. GeneReviews® - NCBI Bookshelf. 2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1426/
  23. Cao A, Galanello R. Beta-thalassemia. Genetics in Medicine [Internet]. 2010 Feb 1;12(2):61–76. Available from: https://doi.org/10.1097/gim.0b013e3181cd68ed
  24. 24.Sleiman J, Tarhini A, Bou-Fakhredin R, Saliba A, Cappellini M, Taher A. Non-Transfusion-Dependent thalassemia: An update on Complications and management. International Journal of Molecular Sciences [Internet]. 2018 Jan 8;19(1):182. Available from: https://doi.org/10.3390/ijms19010182
  25. Carlberg KT, Singer ST, Vichinsky EP. Fertility and Pregnancy in Women with Transfusion-Dependent Thalassemia. Hematology/Oncology Clinics of North America [Internet]. 2018 Apr 1;32(2):297–315. Available from: https://doi.org/10.1016/j.hoc.2017.11.004
  26. Bou-Fakhredin R, Motta I, Cappellini MD, Taher AT. Clinical complications and their management. Hematology/Oncology Clinics of North America [Internet]. 2023 Apr 1;37(2):365–78. Available from: https://doi.org/10.1016/j.hoc.2022.12.007
  27. Sleiman J, Tarhini A, Bou-Fakhredin R, Saliba A, Cappellini M, Taher A. Non-Transfusion-Dependent thalassemia: An update on Complications and management. International Journal of Molecular Sciences [Internet]. 2018 Jan 8;19(1):182. Available from: https://doi.org/10.3390/ijms19010182
  28. Ahmadian B, Ramezani M, Badiei Z, Vaghee S. The effect of applying emotional intelligence components on coping strategies in adolescents with beta-thalassemia major: a randomized clinical trial. BMC Pediatrics [Internet]. 2024 Sep 17;24(1). Available from: https://doi.org/10.1186/s12887-024-05057-7
  29. Ghonchehpour A, Forouzi MA, Dehghan M, Ahmadi A, Okou G, Tirgari B. The effect of mindfulness-based stress reduction on rejection sensitivity and resilience in patients with thalassemia: a randomized controlled trial. BMC Psychiatry [Internet]. 2023 Apr 21;23(1). Available from: https://doi.org/10.1186/s12888-023-04802-z
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Prabha Bhandaria, Lumanti Manandharb, Dipendra Kandelc

a Kathmandu University School of Medical Sciences, Dhulikhel, Nepal

b Rajiv Gandhi University of Health Sciences, Banglore, India

c Gandaki Medical College Teaching Hospital and Research Center, Pokhara, Nepal

Key Highlights

  1. Thalassemia is a group of inherited hemoglobin disorders that affect red blood cells' ability to transport oxygen due to insufficient production of alpha or beta-globin proteins.
  2. Symptoms of thalassemia can range from mild to severe anemia, fatigue, enlarged organs, and bone deformities.
  3. Thalassemia cannot be prevented but can be identified through prenatal testing and family genetic studies.
  4. Blood transfusion is the main treatment option available for severe forms of the disease.
  5. Genetic counseling should be an important part of family planning as the disease can be inherited.

Background

Thalassemia is a condition that happens because of changes (mutations) in the genes responsible for making hemoglobin. Hemoglobin is the part of red blood cells that carries oxygen throughout the body. These gene mutations are inherited from parents. Because of the mutations, your body doesn’t produce sufficient hemoglobin. Insufficient hemoglobin results in fewer healthy red blood cells, decreasing oxygen delivery to cells throughout the body. This results in a condition known as anemia, in which you experience fatigue, weakness, or shortness of breath. Thalassemia can range from mild to severe, with severe cases potentially causing organ damage and even death. Globally, there are 1,310,407 prevalent cases and 119,679 cases of thalassemia. In America, thalassemia affects 6 per 100,000 conceptions. 1-3

Types of Thalassemia

Your normal adult hemoglobin (HbA) is made up of two types of chains, called alpha and beta chains. In thalassemia, the body produces fewer of either the alpha or beta chains, leading to either alpha-thalassemia or beta-thalassemia.

1. Alpha-Thalassemia

Alpha-thalassemia is defined as reduced or absent production of α-globin chains. In total, four genes are necessary to form an alpha-globin chain. You will receive two of these genes from each of your parents. Your symptoms will vary depending on the number of affected or deleted genes. If someone inherits:

  • One mutated gene: They are considered silent carriers and don't have symptoms but pass the disease to their kids.
  • Two mutated genes: They will experience mild signs and symptoms of anemia, also known as the alpha-thalassemia trait.
  • Three mutated genes: Patients with these will experience moderate to severe anemia, also known as Haemoglobin H disease.
  • Four mutated genes represent the most severe form, alpha-thalassemia major. Unfortunately, babies with this condition usually die before birth or shortly after. 2

2. Beta-Thalassemia

Normally, the beta hemoglobin chain is encoded by two genes, resulting in two main forms of the disease. If you have:

  • One mutated gene: This condition is called beta thalassemia minor or beta thalassemia trait. If either of the parents lacks the defective gene, the child will inherit the same condition.
  • Two mutated genes: Both genes are affected, making it the more severe form. If the mutation is mild to moderate, it is called beta thalassemia intermedia, whereas severe mutation is known as beta thalassemia major or Cooley's anemia. 2

Risk Factors of Thalassemia

Figure 1.

  • Family History: Thalassemia follows an autosomal recessive inheritance pattern, in which individuals must inherit two defective genes (one from each parent) to manifest the disease. If only one parent carries the gene, your child becomes a carrier but typically does not develop the condition. 4-5
  • Race: Thalassemia is most common among African Americans and individuals of Mediterranean or Southeast Asian heritage. 2

Symptoms of Thalassemia

The symptoms of thalassemia are due to the decreased number of healthy red blood cells. Thus, the symptoms you experience depend on how severe your condition is.

Figure 2.

1. Asymptomatic

  • You likely won't have any symptoms if you're missing one alpha gene. With two missing alpha genes or one missing beta gene, you may have symptoms of mild anemia, such as fatigue. 2

2. Mild to Moderate Symptoms of Thalassemia

Thalassemia intermedia presents with mild to moderate forms of symptoms, such as,

  • Urine: Dark brown to lighter yellow due to the breakdown of red blood cells. 7
  • Bone Problems: Thalassemia may lead to wider-than-normal bones that are brittle and prone to fractures. 8,9
  • Enlarged Spleen: Thalassemia causes the overproduction of red blood cells due to low hemoglobin levels, leading to an enlarged and hyperactive spleen. 9
  • Slow Growth: The growth of your child can get retarded. 9
  • Thrombosis: There is an increased risk of thrombosis, particularly in older patients. 2,7,9

3. Severe Symptoms of Thalassemia

People with hemoglobin H disease or beta-thalassemia major have severe forms of thalassemia. Symptoms typically appear within the first two years of life and may include features of severe anemia like dizziness and fast heart rate, along with other health issues such as:

  • Pale or Yellow Skin: The skin may look pale due to severe anemia or yellow from the increased breakdown of red blood cells. Tiredness is often the first symptom of anemia. 2,9
  • Behavioral Changes: Anemia can make the child feel listless, fussy, or tired. 8
  • Delayed Puberty: Children with Beta-thalassemia major typically do not grow and gain weight as expected, and they may not have the expected growth spurt during puberty. 7

Diagnosis of Thalassemia

The following tests are done for the diagnosis of thalassemia:

Figure 3.

  • Complete Blood Count (CBC): A CBC is a routine blood test that provides information about the number and characteristics of different blood cells, including red blood cells (RBCs), white blood cells (WBCs), and platelets. The CBC may reveal microcytic hypochromic anemia in thalassemia, characterized by small, pale red blood cells. While useful, they cannot differentiate between various thalassemia types. 10
  • Haemoglobin Electrophoresis: This test identifies and quantifies the different types of hemoglobin present in the blood. In thalassemia, there may be an imbalance in the types of hemoglobin, with reduced levels of HbA and increased levels of HbF or other abnormal hemoglobin variants, depending on the specific type of thalassemia. 2 They are non-invasive and highly accurate for common variants, but cannot detect all genetic mutations.
  • Genetic Studies: Genetic testing may be performed to confirm a diagnosis of thalassemia and determine the specific type and severity of the condition. This typically involves analyzing DNA samples obtained from a blood sample to identify mutations in the genes responsible for producing hemoglobin. 12
  • Prenatal Testing: Expectant parents of thalassemia carriers may consider prenatal testing, which involves both invasive and non-invasive tests.
  • Chorionic Villus Sampling (CVS): The placenta is the organ that connects the umbilical cord to the mother's womb. CVS is a test that involves extracting and examining tissue from the placenta to diagnose thalassemia prenatally. It is performed in the first trimester.
  • Amniocentesis: Amniotic fluid is found within the sac surrounding a developing embryo. This procedure involves sampling amniotic fluid to test for thalassemia and is performed in the second trimester. It carries a small risk of miscarriage. 13,14
  • Cell-Free Fetal DNA Analysis: This non-invasive test analyzes fetal DNA in the maternal plasma to detect specific thalassemia mutations. This approach is advantageous as it reduces the risk associated with invasive procedures. 15,16

Treatment of Thalassemia

While some individuals with thalassemia may not require treatment or may only need occasional medical care, others may require regular monitoring and intervention to manage symptoms and complications. Here are some common treatment approaches for thalassemia:

Figure 4.

  • Blood Transfusions: Regular blood transfusions are often necessary for individuals with moderate to severe thalassemia, such as thalassemia major. Transfusions help replenish the supply of healthy red blood cells and improve symptoms of anemia, such as fatigue and weakness. However, frequent transfusions can lead to iron overload in the body. 2,17
  • Iron Chelation Therapy: Iron overload resulting from repeated blood transfusions can damage organs, particularly the heart, liver, and endocrine glands. Iron chelation therapy involves using medications (such as deferoxamine, deferiprone, or deferasirox) to remove excess iron from the body and prevent complications associated with iron overload. 17
  • Folic Acid Supplementation: Folic acid (vitamin B9) supplementation is often prescribed to individuals with thalassemia to support red blood cell production and minimize the risk of developing megaloblastic anemia. 18
  • Bone Marrow Transplantation: For individuals with severe thalassemia who have a suitable donor, bone marrow transplantation (also known as hematopoietic stem cell transplantation) may offer a potential cure. This procedure involves replacing the defective bone marrow with healthy stem cells from a donor, which can produce normal red blood cells. 19
  • Gene Therapy: Gene therapy is an experimental approach being investigated as a potential treatment for thalassemia. This involves introducing healthy copies of the defective genes responsible for thalassemia into the patient's bone marrow cells to restore normal hemoglobin production. 17,19
  • Hydroxyurea Therapy: Hydroxyurea is a medication that can stimulate the production of fetal hemoglobin (HbF), which has a higher oxygen-carrying capacity than adult hemoglobin. This therapy may reduce the need for blood transfusions and alleviate symptoms in some individuals with thalassemia. 17,20
  • Treatment of Complications: Additional treatments may be necessary to manage complications associated with thalassemia, such as bone deformities, growth delays, infections, and complications related to iron overload. 2
  • Low Iron Diet: Thalassemia patients, particularly those not undergoing transfusion, should avoid iron-rich foods and consume tea with meals to lower iron absorption. Transfused patients benefit from a low-iron diet, limiting intake to under 10 mg/day for children under 10 and 18 mg/day for older individuals to prevent organ damage from iron accumulation. Thalassemia patients should avoid foods high in iron, such as oysters, liver, pork, beans, beef, peanut butter, tofu, flour tortillas, infant cereal, cream of wheat, Malt-O-Meal, iron-fortified cereals, prune juice, prunes, watermelon, spinach, leafy greens, dates, raisins, broccoli, peas, and fava beans. 21

Pregnancy and Contraception in Thalassemia

  • Pregnancy Planning: Women with severe forms of thalassemia can have successful pregnancies, but you need to consult with your doctor. It's important to consider genetic counseling. It educates you and your partner regarding the nature of thalassemia, its inheritance pattern, and your reproductive options. This also includes discussions on the availability of prenatal and preimplantation genetic testing and the implications of these tests. 22,23
  • During Pregnancy: Increased monitoring and adjustments to treatment may be necessary, as pregnancy can pose risks such as heart issues for the mother and growth problems for the baby.
  • Contraception: If pregnancy isn't planned, reliable contraception is recommended. 24,25

Complications of Thalassemia

Figure 5.

  • Iron Overload: Individuals with thalassemia who receive regular blood transfusions risk developing iron overload, as each transfusion introduces excess iron into the body. Iron overload can lead to organ damage, particularly to the heart, liver, and endocrine glands, increasing the risk of heart failure, liver cirrhosis, diabetes, and other complications. 17
  • Hypersplenism: Splenomegaly and increased destruction of red blood cells by the spleen (hypersplenism) can exacerbate anemia and lead to a further decrease in red blood cell count, worsening symptoms such as fatigue and weakness. 2
  • Increased Risk of Infections: Individuals with thalassemia, particularly those who have undergone splenectomy, are at increased risk of infections. Infections are particularly caused by encapsulated bacteria such as Streptococcus pneumoniae, Haemophilus influenzae, and Neisseria meningitidis. 27
  • Bone Deformities: Thalassemia can affect bone growth and development, leading to skeletal abnormalities such as osteoporosis, bone marrow expansion, and bone deformities (e.g., widening of facial bones and thinning of long bones). These changes can cause skeletal pain, fractures, and impaired mobility. 2,26
  • Growth Delay and Developmental Delay: Growth hormone deficiency caused by iron deposition in the pituitary gland can interfere with normal growth and development in children with thalassemia, leading to growth delays, developmental delays, and cognitive impairments. 2,26

Psychosocial Challenges of Thalassemia and Coping Strategies

Thalassemia, a chronic disease condition, impairs a patient’s psychological and social processes. Among all types, if you have a beta-thalassemia major, you are likely to exhibit maladaptive coping strategies. This can be improved through psychological interventions such as emotional intelligence training. This approach has enhanced problem-focused and positive emotion-focused coping strategies while reducing negative emotion-focused coping. Joining support groups and meeting and listening to people with similar conditions helps develop coping mechanisms and improves the quality of life. 28,29

Questions for your Doctor

  1. What is the likelihood of my child inheriting thalassemia?
  2. Are there any dietary recommendations or restrictions that should be followed to manage thalassemia effectively?
  3. What is the life expectancy if my child is diagnosed with thalassemia?
  4. How accurate is genetic testing in diagnosing thalassemia?
  5. Does my child have to undergo blood transfusions for the rest of their life?

Conflict of Interest

PB is a non-paid research assistant at ehealthyinfo. LM worked as a paid freelance medical journalist for ehealthyinfo from 2022-23. DK is a non-paid research assistant at ehealthyinfo. No other conflicts of interest were declared.

Peer Reviewed By

Sushmita Shrestha, MD

Tower Health, West Reading, PA, USA

References

  1. De Simone G, Quattrocchi A, Mancini B, Di Masi A, Nervi C, Ascenzi P. Thalassemias: from gene to therapy. Molecular Aspects of Medicine [Internet]. 2022 Apr 1;84:101028. Available from: https://doi.org/10.1016/j.mam.2021.101028
  2. Baird DC, Batten SH, Sparks SK. Alpha- and Beta-thalassemia: Rapid Evidence Review. Am Fam Physician. 2022;105(3):272-280. Available from: Alpha- and Beta-thalassemia: Rapid Evidence Review | AAFP
  3. Kattamis A, Kwiatkowski JL, Aydinok Y. Thalassaemia. The Lancet [Internet]. 2022 Jun 1;399(10343):2310–24. Available from: https://doi.org/10.1016/s0140-6736(22)00536-0
  4. Lee JS, Rhee TM, Jeon K, Cho Y, Lee SW, Han KD, et al. Epidemiologic Trends of Thalassemia, 2006–2018: A Nationwide Population-Based Study. Journal of Clinical Medicine [Internet]. 2022 Apr 20;11(9):2289. Available from: https://doi.org/10.3390/jcm11092289
  5. Abu-Shaheen A, Heena H, Nofal A, Abdelmoety DA, Almatary A, Alsheef M, et al. Epidemiology of Thalassemia in Gulf Cooperation Council Countries: A Systematic review. BioMed Research International [Internet]. 2020 Oct 28;2020:1–15. Available from: https://doi.org/10.1155/2020/1509501
  6. Lal A, Vichinsky E. The clinical phenotypes of alpha thalassemia. Hematology/Oncology Clinics of North America [Internet]. 2023 Apr 1;37(2):327–39. Available from: https://doi.org/10.1016/j.hoc.2022.12.004
  7. 7.Beta thalassemia: MedlinePlus Genetics [Internet]. Available from: https://medlineplus.gov/genetics/condition/beta-thalassemia/
  8. Beta thalassemia - Symptoms, causes, treatment | NORD [Internet]. National Organization for Rare Disorders. Available from: https://rarediseases.org/rare-diseases/thalassemia-major/
  9. 9.Galanello R, Origa R. Beta-thalassemia. Orphanet Journal of Rare Diseases [Internet]. 2010 May 21;5(1). Available from: https://doi.org/10.1186/1750-1172-5-11
  10. 10.Risoluti R, Materazzi S, Sorrentino F, Bozzi C, Caprari P. Update on thalassemia diagnosis: New insights and methods. Talanta [Internet]. 2018 Jun 1;183:216–22. Available from: https://doi.org/10.1016/j.talanta.2018.02.071
  11. Long J, Yu C, Sun L, Peng M, Song C, Mao A, et al. Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening. Clinica Chimica Acta [Internet]. 2024 May 23;560:119749. Available from: https://pubmed.ncbi.nlm.nih.gov/38796052/
  12. Aliyeva G, Asadov C, Mammadova T, Gafarova S, Abdulalimov E. Thalassemia in the laboratory: pearls, pitfalls, and promises. Clinical Chemistry and Laboratory Medicine (CCLM) [Internet]. 2018 Aug 23;57(2):165–74. Available from: https://doi.org/10.1515/cclm-2018-0647
  13. Mensah C, Sheth S. Optimal strategies for carrier screening and prenatal diagnosis of α- and β-thalassemia. Hematology [Internet]. 2021 Dec 10;2021(1):607–13. Available from: https://doi.org/10.1182/hematology.2021000296
  14. Li DZ, Yang YD. Invasive prenatal diagnosis of fetal thalassemia. Best Practice & Research Clinical Obstetrics & Gynaecology [Internet]. 2017 Feb 1;39:41–52. Available from: https://doi.org/10.1016/j.bpobgyn.2016.10.011
  15. Charoenkwan P, Traisrisilp K, Sirichotiyakul S, Phusua A, Sanguansermsri T, Tongsong T. Noninvasive prenatal diagnosis of Beta-Thalassemia disease by using digital PCR analysis of Cell-Free fetal DNA in maternal plasma. Fetal Diagnosis and Therapy [Internet]. 2022 Jan 1;49(11–12):468–78. Available from: https://pubmed.ncbi.nlm.nih.gov/36574763/
  16. Constantinou CG, Karitzi E, Byrou S, Stephanou C, Michailidou K, Makariou C, et al. Optimized Droplet Digital PCR assay on Cell-Free DNA samples for Non-Invasive Prenatal Diagnosis: Application to Beta-Thalassemia. Clinical Chemistry [Internet]. 2022 May 2;68(8):1053–63. Available from: https://pubmed.ncbi.nlm.nih.gov/35652459/
  17. 17.Shah FT, Sayani F, Trompeter S, Drasar E, Piga A. Challenges of blood transfusions in β-thalassemia. Blood Reviews [Internet]. 2019 Sep 1;37:100588. Available from: https://doi.org/10.1016/j.blre.2019.100588
  18. Baghersalimi A, Kolachahi HH, Darbandi B, Mavardiani ZK, Alinodehi MA, Dalili S, et al. Assessment of serum folic acid and homocysteine in thalassemia major patients before and after folic acid supplement cessation. Journal of Pediatric Hematology/Oncology [Internet]. 2018 Oct 1;40(7):504–7. Available from: https://doi.org/10.1097/mph.0000000000001295
  19. Langer AL, Esrick EB. β-Thalassemia: evolving treatment options beyond transfusion and iron chelation. Hematology [Internet]. 2021 Dec 10;2021(1):600–6. Available from: https://doi.org/10.1182/hematology.2021000313
  20. Yasara N, Wickramarathne N, Mettananda C, Silva I, Hameed N, Attanayaka K, et al. A randomised double-blind placebo-controlled clinical trial of oral hydroxyurea for transfusion-dependent β-thalassaemia. Scientific Reports [Internet]. 2022 Feb 17;12(1). Available from: https://doi.org/10.1038/s41598-022-06774-8
  21. Nutrition [Internet]. Northern California Comprehensive Thalassemia Center. Available from: https://thalassemia.ucsf.edu/nutrition#:~:text=For%20nontransfused%20thalassemia%20patients%2C%20folate,excessive%20consumption%20of%20red%20meat.
  22. Langer AL. Beta-Thalassemia [Internet]. GeneReviews® - NCBI Bookshelf. 2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1426/
  23. Cao A, Galanello R. Beta-thalassemia. Genetics in Medicine [Internet]. 2010 Feb 1;12(2):61–76. Available from: https://doi.org/10.1097/gim.0b013e3181cd68ed
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