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11 minutes ago5 min read

Thalassemia in Need of Accessible Screening and Increased Global Awareness



Image Citation: [4]

Written by Ananya Uddanti ‘28

Edited by Yusef Lateef ‘28


In 1925, a dentist noticed increasing infant iron deficiencies [1]. Per Whipple and Bradford’s examination of the disease, there was a correlation of where these infants came from and their diagnosis. This is now known as thalassemia, an inherited mutation group affecting red blood cells [2]. Approximately 80-90 million of the global population is a thalassemia carrier, concentrated in regions depicted in Figure 1 [3,4]. The mutations cause a decrease or total lack of protein chains crucial in carrying oxygen to vital organs, such as the lungs [1]. The mutated hemoglobins decrease the blood oxygen-carrying capacity, limiting the function of such critical organs [5].


According to the United Nations, the number of refugees worldwide reached 25.4 million in 2017; and most were from thalassemia-inflicted regions. The regions in Western countries, where asylum seekers reside, coincides with increasing rates of thalassemia. For example, the 1960s influx of Greeks in the United Kingdom is believed to be a reason for the notable increase in thalassemia [2,6]. Therefore, migration is understood to cause the rising prevalence of thalassemia in the United States (USA) and the UK. The spread across the globe emphasizes the severity of thalassemia as a global health issue. The influx of thalassemia due to migration can lead to underrepresentation in data. The US had thalassemia that is rarely discussed, contributing to a need for more efforts to establish a protocol in the Western world [7,8].

Thalassemia is treated case-by-case: some require folic acid supplements, while others require iron therapy. As infants grow into adults, the recommendations differ more drastically. Red blood cell transfusions have dramatically improved patient survival [1, 2]. However, most countries endemic to thalassemia cannot provide safe blood transfusions [9]. For instance, Nigeria relies partially on paid donors, which introduces an ethical safety concern. The tools required to screen donated blood for quality are also not universally available, allowing syphilis and HIV-positive blood to be given to thalassemia patients [10]. Beyond safety, therapeutic care should be made accessible, as it requires regularity. Generally, patients should be seen every 3-4 months, and the halting of transfusions must be addressed appropriately [1, 7]. Else, the patient may have organ failure or sudden death [8]. The inability of under-resourced regions to provide safe and accessible transfusion is an obstacle for patients.

 

Screening treatments are also crucial to addressing thalassemia to ensure proper diagnosis. A mere 13% of participants in an Iranian study participated in thalassemia screening [11]. The reasons may vary: whether it be a lack of public knowledge or accessibility, it is clear that there is a need for global health policy directly addressing thalassemia. Thalassemia is often misdiagnosed as anemia, which causes patients to have iron overload. However, the chronic conditions associated with excessive iron could be eliminated with proper screening [12].

 

Prenatal screening allows parents to understand the risk to their offspring, from stillbirths to hydrops fetalis [13]. A study in Iran found that 69% of individuals had insufficient information regarding the risk of their offspring having thalassemia [11]. Prenatal counseling diagnoses thalassemia early and encourages immediate precautionary steps. A Thailand study surveying migrant workers found their prevention efforts were not based in knowledge, mirroring the lack of knowledge in the Iranian study [13]. Prevention programs require global health experts to view thalassemia as a topic of importance. Such programs are ideal for combating culturally rooted systems such as consanguineous marriage in thalassemia-endemic regions [2]. Likewise, beliefs against abortion in endemic regions prevent carrier couples from opting for the termination of an at-risk fetus [14].


In order to make such care accessible to those at risk, these global health efforts require support from the government and other entities. For example, India’s efforts to establish a National Blood Policy have enabled the preservation of red blood cells; the government’s involvement ensured that no shortages affected thalassemia patients by safeguarding access to timely transfusions [15]. Public awareness campaigns in the UK successfully encouraged individuals to donate blood, prompting belief that a similar effort to increase awareness of thalassemia will be beneficial and improvements to safe and affordable treatments in endemic regions [15]. 

 

We must combat thalassemia through clear representation, safe transfusions, early diagnosis, and increasing awareness. Representation and awareness encourage screening for at-risk individuals and early diagnosis for newborns. Further, the inaccessible transfusions emphasize the need for governmental involvement and outreach efforts to address thalassemia as a blood disorder disproportionately affecting populations across the globe.

 

In order to make such care accessible to those at risk, these global health efforts require support from the government and other entities. For example, India’s efforts to establish a National Blood Policy have enabled the preservation of red blood cells; the government’s involvement ensured that no shortages affected thalassemia patients by safeguarding access to timely transfusions [15]. Public awareness campaigns in the UK successfully encouraged individuals to donate blood, prompting belief that a similar effort to increase awareness of thalassemia will be beneficial and improvements to safe and affordable treatments in endemic regions [15]. 

 

We must combat thalassemia through clear representation, safe transfusions, early diagnosis, and increasing awareness. Representation and awareness encourage screening for at-risk individuals and early diagnosis for newborns. Further, the inaccessible transfusions emphasize the need for governmental involvement and outreach efforts to address thalassemia as a blood disorder disproportionately affecting populations across the globe.

 

 

References

  1. Shafique F, Ali S, Almansouri T, Van Eeden F, Shafi N, Khalid M, et al. Thalassemia, a human blood disorder. Brazilian Journal of Biology. 2023;83.

  2. Kattamis A, Forni GL, Aydinok Y, Viprakasit V. Changing patterns in the epidemiology of β‐thalassemia. European Journal of Haematology [Internet]. 2020 Sep 21;105(6):692–703. Available from: https://onlinelibrary.wiley.com/doi/full/10.1111/ejh.13512

  3. Sayani FA, Kwiatkowski JL. Increasing prevalence of thalassemia in America: Implications for primary care. Annals of Medicine. 2015 Oct 3;47(7):592–604.

  4. File:Red Blood Cell.jpg - Wikimedia Commons [Internet]. Wikimedia.org. 2017. Available from: https://commons.wikimedia.org/wiki/File:Red_Blood_Cell.jpg

  5. Zhao Y, Li Y, Chen P, Li S, Luo J, Xia H. Performance comparison of blood collection tubes as liquid biopsy storage system for minimizing cfDNA contamination from genomic DNA. Journal of Clinical Laboratory Analysis. 2018 Sep 7;33(2):e22670.

  6. Modell CB, Benson A, Wright CRP. Incidence of  -Thalassaemia Trait among Cypriots in London. BMJ. 1972 Sep 23;3(5829):737–8.

  7. Lal A, Wong T, Keel S, Pagano M, Chung J, Kamdar A, et al. The transfusion management of beta thalassemia in the United States. Transfusion. 2021 Aug 28;61(10):3027–39.

  8. Cunningham MJ, Macklin EA, Neufeld EJ, Cohen AR. Complications of β-thalassemia major in North America. Blood. 2004 Jul 1;104(1):34–9.

  9. Abdol Majid Cheraghali. Blood safety concerns in the Eastern Mediterranean region. PubMed. 2011 Jun 1;11(6).

  10.  Aneke J, Okocha C. Blood transfusion safety; current status and challenges in Nigeria. Asian Journal of Transfusion Science. 2017;11(1):1.

  11. Karimzaei T, Masoudi Q, Shahrakipour M, Navidiyan A, Jamalzae AAQ, Zoraqi Bamri A. Knowledge, Attitude and Practice of Carrier Thalassemia Marriage Volunteer in Prevention of Major Thalassemia. Global Journal of Health Science [Internet]. 2015 Jun 9 [cited 2019 Nov 17];7(5). Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803916/

  12. Mensah C, Sheth S. Optimal strategies for carrier screening and prenatal diagnosis of α- and β-thalassemia. Hematology [Internet]. 2021 Dec 10 [cited 2021 Dec 20];2021(1):607–13. Available from: https://ashpublications.org/hematology/article/2021/1/607/482969/Optimal-strategies-for-carrier-screening-and

  13. ACOG Practice Bulletin No. 78: Hemoglobinopathies in Pregnancy. Obstetrics & Gynecology. 2007 Jan;109(1):229–38.

  14. Xu JZ. Knowledge, Cultural, and Structural Barriers to Thalassemia Screening in Migrant Populations in Thailand. 2018 Nov 29;132(Supplement 1):2228–8.

  15. Horvei P, MacKenzie T, Kharbanda S. Advances in the management of α-thalassemia major: reasons to be optimistic. Hematology. 2021 Dec 10;2021(1):592–9.

  16. Shah FT, Sayani F, Trompeter S, Drasar E, Piga A. Challenges of blood transfusions in β-thalassemia. Blood Reviews. 2019 Jul;37:100588.

 

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