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Thalassemia
| Thalassemia | |
|---|---|
| Other names | Thalassaemia, Mediterranean anemia |
 | |
| Peripheral blood film from a person with delta-beta thalassemia | |
| Pronunciation | |
| 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 a group of inherited blood disorders that manifest as the production of reduced or zero quantities of hemoglobin.[7] Symptoms depend on the type of thalassemia and can vary from none to severe, including death.[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 include tiredness, pallor, bone problems, an enlarged spleen, jaundice, pulmonary hypertension, and dark urine.[1] Children's' growth and development may be slower than normal.[1]
Thalassemias are genetic disorders.[2] Alpha thalassemia is caused by deficient production of the alpha globin component of hemoglobin, while beta thalassemia is a deficiency in the beta globin component.[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 faulty.[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] Clinically, thalassemia is classed as Transfusion-Dependent Thalassemia (TDT) or non-Transfusion-Dependent Thalassemia (NTDT), since this determines the principal treatment options. TDT requires regular blood transfusions, typically every two to five weeks. TDTs include beta-thalassemia major, hemoglobin H disease, and severe HbE/beta-thalassemia. NTDT does not need regular transfusions but may require transfusion in case of an anemia crisis.[9] Complications of transfusion include iron overload with resulting heart or liver disease.[1] Other symptoms of thalassemias include enlargement of the spleen, frequent infections, and osteoporosis.[1]
The 2021[update] Global Burden of Disease Survey found that 1.31 million people worldwide have severe thalassemia while thalassemia trait occurs in 358 million people, causing 11,100 deaths per annum. It is slightly more prevalent in males than females.[10][11] It is most common among people of Greek, Italian, Middle Eastern, South Asian, and African descent.[7] 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 historically more common in regions of the world where the risk of malaria is higher.[12]
- ^ a b c d e f g "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 "How Are Thalassemias Treated?". NHLBI. 3 July 2012. Archived from the original on 16 September 2016. Retrieved 5 September 2016.
- ^ Vos T, Allen C, Arora M, Barber RM, Bhutta ZA, Brown A, et al. (GBD 2015 Disease and Injury Incidence and Prevalence Collaborators) (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.
- ^ Wang H, Naghavi M, Allen C, Barber RM, Bhutta ZA, Carter A, et al. (GBD 2015 Mortality and Causes of Death Collaborators) (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.
- ^ a b c "What is Thalassemia?". National Heart, Lung, and Blood Institute (NHLBI). 31 May 2022. Retrieved 9 December 2024.
- ^ "How Can Thalassemias Be Prevented?". NHLBI. 3 July 2012. Archived from the original on 16 September 2016. Retrieved 5 September 2016.
- ^ Baird DC, Batten SH, Sparks SK (March 2022). "Alpha- and Beta-thalassemia: Rapid Evidence Review". American Family Physician. 105 (3): 272–280. PMID 35289581.
- ^ "Thalassemias - Level 4 cause | Institute for Health Metrics and Evaluation". www.healthdata.org. Retrieved 17 December 2024.
- ^ "Thalassemias trait - Level 4 cause | Institute for Health Metrics and Evaluation". www.healthdata.org. Retrieved 17 December 2024.
- ^ Weatherall DJ (2015). "The Thalassemias: Disorders of Globin Synthesis". Williams Hematology (9th ed.). McGraw Hill Professional. p. 725. ISBN 978-0-07-183301-1.
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