User:Mr. Ibrahem/Thalassemia

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Thalassemia
Other namesThalassaemia, Mediterranean anemia
Peripheral blood film from a person with Delta Beta thalassemia
Pronunciation
SpecialtyHematology
SymptomsFeeling tired, pale skin, enlarged spleen, yellowish skin, dark urine[1]
Diagnostic methodBlood tests, genetic tests[2]
TreatmentBlood transfusions, iron chelation, folic acid[3]
Frequency280 million (2015)[4]
Deaths16,800 (2015)[5]

Thalassemias are inherited blood disorders characterized by decreased hemoglobin production.[7] Symptoms depend on the type and can vary from none to severe.[1] Often there is mild to severe anemia (low red blood cells or hemoglobin).[1] Anemia can result in feeling tired and pale skin.[1] There may also be bone problems, an enlarged spleen, yellowish skin, and dark urine.[1] Slow growth may occur in children.[1]

Thalassemias are genetic disorders inherited from a person's parents.[6] 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.[6] Diagnosis is typically by blood tests including a complete blood count, special hemoglobin tests, and genetic tests.[2] Diagnosis may occur before birth through prenatal testing.[8]

Treatment depends on the type and severity.[3] Treatment for those with more severe disease often includes regular blood transfusions, iron chelation, and folic acid.[3] Iron chelation may be done with deferoxamine or deferasirox.[3] Occasionally, a bone marrow transplant may be an option.[3] 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]

As of 2015, thalassemia occurs in about 280 million people, with about 439,000 having severe disease.[9] It is most common among people of Italian, Greek, Middle Eastern, South Asian, and African descent.[7] Males and females have similar rates of disease.[10] It resulted in 16,800 deaths in 2015, down from 36,000 deaths in 1990.[5][11] Those who have minor degrees of thalassemia, similar to those with sickle-cell trait, have some protection against malaria, explaining why they are more common in regions of the world where malaria exists.[12]

References[edit]

  1. ^ 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.
  2. ^ a b "How Are Thalassemias Diagnosed?". NHLBI. 3 July 2012. Archived from the original on 16 September 2016. Retrieved 5 September 2016.
  3. ^ 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.
  4. ^ GBD 2015 Disease and Injury Incidence and Prevalence, Collaborators. (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}}: |first1= has generic name (help)CS1 maint: numeric names: authors list (link)
  5. ^ a b GBD 2015 Mortality and Causes of Death, Collaborators. (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}}: |first1= has generic name (help)CS1 maint: numeric names: authors list (link)
  6. ^ a b c "What Causes Thalassemias?". NHLBI. 3 July 2012. Archived from the original on 26 August 2016. Retrieved 5 September 2016.
  7. ^ a b c "What Are Thalassemias?". NHLBI. 3 July 2012. Archived from the original on 26 August 2016. Retrieved 5 September 2016.
  8. ^ "How Can Thalassemias Be Prevented?". NHLBI. 3 July 2012. Archived from the original on 16 September 2016. Retrieved 5 September 2016.
  9. ^ Global Burden of Disease Study 2013, Collaborators (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}}: |first1= has generic name (help)CS1 maint: numeric names: authors list (link)
  10. ^ Clin. Methods in Ped. Jaypee Brothers Publishers. 2005. p. 21. ISBN 9788171798087.{{cite book}}: CS1 maint: url-status (link)
  11. ^ GBD 2013 Mortality and Causes of Death, Collaborators (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". Lancet. 385 (9963): 117–71. doi:10.1016/S0140-6736(14)61682-2. PMC 4340604. PMID 25530442. Archived from the original on 10 March 2021. Retrieved 28 October 2018. {{cite journal}}: |first1= has generic name (help)CS1 maint: numeric names: authors list (link)
  12. ^ Weatherall, D. J. (2015). "The Thalassemias: Disorders of Globin Synthesis". Williams Hematology (9e ed.). McGraw Hill Professional. p. 725. ISBN 9780071833011. Archived from the original on 14 October 2017. Retrieved 15 September 2017.