Global InformationThalassemia information
| Thalassemia | |
|---|---|
| Other names | Thalassaemia, Mediterranean anemia |
 | |
| Peripheral blood film from a person with delta-beta thalassemia | |
| Pronunciation |
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| Specialty | Hematology |
| Symptoms | Feeling tired, pale skin, enlarged spleen, yellowish skin, dark urine[1] |
| Causes | Genetic (autosomal recessive)[2] |
| Diagnostic method | Blood tests, genetic tests[3] |
| Treatment | Blood transfusions, iron chelation, folic acid[4] |
| Frequency | 280 million (2015)[5] |
| Deaths | 16,800 (2015)[6] |
Thalassemias are inherited blood disorders that result in abnormal hemoglobin.[7] Symptoms depend on the type of thalassemia and can vary from none to severe.[1] Often there is mild to severe anemia (low red blood cells or hemoglobin) as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live.[1] Symptoms of anemia include feeling tired and having pale skin.[1] Other symptoms of thalassemia include bone problems, an enlarged spleen, yellowish skin, pulmonary hypertension, and dark urine.[1] Slow growth may occur in children.[1] Symptoms and presentations of thalassemia can change over time. Thalassemia is also known as Cooley's anemia or Mediterranean anemia.[citation needed]
Thalassemias are genetic disorders.[2] There are two main types, alpha thalassemia and beta thalassemia.[7] The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are missing.[2] Diagnosis is typically by blood tests including a complete blood count, special hemoglobin tests, and genetic tests.[3] Diagnosis may occur before birth through prenatal testing.[8]
Treatment depends on the type and severity.[4] Treatment for those with more severe disease often includes regular blood transfusions, iron chelation, and folic acid.[4] Iron chelation may be done with deferoxamine, deferasirox or deferiprone.[4][9] Occasionally, a bone marrow transplant may be an option.[4] Complications may include iron overload from the transfusions with resulting heart or liver disease, infections, and osteoporosis.[1] If the spleen becomes overly enlarged, surgical removal may be required.[1] Thalassemia patients who do not respond well to blood transfusions can take hydroxyurea or thalidomide, and sometimes a combination of both.[10] Hydroxyurea is the only FDA approved drug for thalassemia. Patients who took 10 mg/kg of hydroxyurea every day for a year had significantly higher hemoglobin levels, and it was a well-tolerated treatment for patients who did not respond well to blood transfusions.[11] Other known hemoglobin-inducers include thalidomide, but it has not been tested in a clinical setting. The combination of thalidomide and hydroxyurea resulted in hemoglobin levels increasing significantly in transfusion-dependent and non-transfusion dependent patients [12]
As of 2015, thalassemia occurs in about 280 million people, with about 439,000 having severe disease.[13] It is most common among people of Greek, Italian, Middle Eastern, South Asian, and African descent.[7] Males and females have similar rates of disease.[citation needed] It resulted in 16,800 deaths in 2015, down from 36,000 deaths in 1990.[6][14] Those who have minor degrees of thalassemia, in common with those who have sickle-cell trait, have some protection against malaria, explaining why sickle-cell trait and thalassemia are more common in regions of the world where the risk of malaria is higher.[15] An estimated 1/3 of people with thalassemia have "non-transfusion dependent thalassemia" and do not depend on regularly continuing blood transfusions to survive.
- ^ a b c d e f g h "What Are the Signs and Symptoms of Thalassemias?". NHLBI. 3 July 2012. Archived from the original on 16 September 2016. Retrieved 5 September 2016.
- ^ a b c "What Causes Thalassemias?". NHLBI. 3 July 2012. Archived from the original on 26 August 2016. Retrieved 5 September 2016.
- ^ a b "How Are Thalassemias Diagnosed?". NHLBI. 3 July 2012. Archived from the original on 16 September 2016. Retrieved 5 September 2016.
- ^ a b c d e "How Are Thalassemias Treated?". NHLBI. 3 July 2012. Archived from the original on 16 September 2016. Retrieved 5 September 2016.
- ^ GBD 2015 Disease and Injury Incidence and Prevalence (8 October 2016). "Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1545–1602. doi:10.1016/S0140-6736(16)31678-6. PMC 5055577. PMID 27733282.
{{cite journal}}: CS1 maint: numeric names: authors list (link) - ^ a b GBD 2015 Mortality and Causes of Death (8 October 2016). "Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980–2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1459–1544. doi:10.1016/s0140-6736(16)31012-1. PMC 5388903. PMID 27733281.
{{cite journal}}: CS1 maint: numeric names: authors list (link) - ^ a b c "What Are Thalassemias?". NHLBI. 3 July 2012. Archived from the original on 26 August 2016. Retrieved 5 September 2016.
- ^ "How Can Thalassemias Be Prevented?". NHLBI. 3 July 2012. Archived from the original on 16 September 2016. Retrieved 5 September 2016.
- ^ "Iron Chelation". Retrieved 15 July 2020.
- ^ Shah, Sandip; Sheth, Radhika; Shah, Kamlesh; Patel, Kinnari (February 2020). "Safety and effectiveness of thalidomide and hydroxyurea combination in β-thalassaemia intermedia and major: a retrospective pilot study". British Journal of Haematology. 188 (3): e18–e21. doi:10.1111/bjh.16272. ISSN 0007-1048. PMID 31710694. S2CID 207940189.
- ^ Keikhaei, Bijan (2015). "Clinical and Haematological Effects of Hydroxyurea in β -Thalassemia Intermedia Patients". Journal of Clinical and Diagnostic Research. 9 (10): OM01-3. doi:10.7860/JCDR/2015/14807.6660. PMC 4625280. PMID 26557561.
- ^ Masera, Nicoletta; Tavecchia, Luisa; Capra, Marietta; Cazzaniga, Giovanni; Vimercati, Chiara; Pozzi, Lorena; Biondi, Andrea; Masera, Giuseppe (2010). "Optimal response to thalidomide in a patient with thalassaemia major resistant to conventional therapy". Blood Transfusion. 8 (1): 63–5. doi:10.2450/2009.0102-09. ISSN 1723-2007. PMC 2809513. PMID 20104280.
- ^ Global Burden of Disease Study 2013 (22 August 2015). "Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013". Lancet. 386 (9995): 743–800. doi:10.1016/s0140-6736(15)60692-4. PMC 4561509. PMID 26063472.
{{cite journal}}: CS1 maint: numeric names: authors list (link) - ^ GBD 2013 Mortality and Causes of Death (17 December 2014). "Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013". The Lancet. 385 (9963): 117–71. doi:10.1016/S0140-6736(14)61682-2. hdl:11655/15525. PMC 4340604. PMID 25530442.
{{cite journal}}: CS1 maint: numeric names: authors list (link) - ^ Weatherall, D. J. (2015). "The Thalassemias: Disorders of Globin Synthesis". Williams Hematology (9th ed.). McGraw Hill Professional. p. 725. ISBN 9780071833011.