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 Table of Contents  
SPECIAL COMMUNICATION
Year : 2020  |  Volume : 5  |  Issue : 1  |  Page : 108-110

Thalassemia in Pakistan: A forward-looking solution to a serious health issue


1 Safe Blood Transfusion Programme, Ministry of National Health Services, Government of Pakistan, Pakistan
2 World Health Organization Regional Office for the Eastern Mediterranean, Cairo, Egypt

Date of Submission09-Dec-2019
Date of Decision27-Feb-2020
Date of Acceptance29-Feb-2020
Date of Web Publication17-Apr-2020

Correspondence Address:
Hasan Abbas Zaheer
Safe Blood Transfusion Programme, Ministry of National Health Services, Government of Pakistan
Pakistan
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/GJTM.GJTM_72_19

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How to cite this article:
Zaheer HA, Waheed U, Abdella YE, Konings F. Thalassemia in Pakistan: A forward-looking solution to a serious health issue. Glob J Transfus Med 2020;5:108-10

How to cite this URL:
Zaheer HA, Waheed U, Abdella YE, Konings F. Thalassemia in Pakistan: A forward-looking solution to a serious health issue. Glob J Transfus Med [serial online] 2020 [cited 2020 Aug 11];5:108-10. Available from: http://www.gjtmonline.com/text.asp?2020/5/1/108/282748




  Introduction Top


Globally, thalassemia is the most prevalent yet preventable genetic blood disorder[1] affecting populations in the Mediterranean area, Middle East, Transcaucasia, Central Asia, Indian subcontinent, and Southeast Asia. Over the past few decades, the progress we have made in preventing infectious diseases increases the relative significance of noninfectious diseases,[2] including genetic disorders like thalassemia.

Advances in thalassemia care and management combined with the commitment of governments in many parts of the world have transformed thalassemia from a “childhood fatal disease” to a “chronic disorder,” requiring multidisciplinary care and compatible with normal life expectancy.[3] Unfortunately, this is not the case in Pakistan.


  Aims of Review Top


This manuscript aims to reflect on the current situation of thalassemia in Pakistan, issues faced by patients and families, and the limitations in treatment. Finally, it provides a forward-looking solution through a process of formulating a national policy and strategic plan.


  Method of Review Top


This manuscript is based on a structured literature search using databases, including PakMediNet, Directory of Open Access Journals, PubMed, and Google Scholar and the following keywords and their combinations: thalassemia, Pakistan, eradication, hepatitis, HIV/AIDS, blood transfusion, and awareness about thalassemia in the Pakistani population. This search resulted in 24 studies; including original articles, review articles, and reports, of which 17 were incorporated in this manuscript.


  Thalassemia in Pakistan; Current Status Top


Pakistan is among the highest thalassemia burden countries in the world. The commonly quoted figure for the country is 100,000 transfusion-dependent thalassemia patients. In the absence of a coherent national policy and strategic plan, the number of thalassemics in the country is believed to be increasing, but the exact burden of the disease is unknown. As a result, despite being a preventable blood disorder, thalassemia in Pakistan continues to increase in number and causes misery to the patients and their families. In addition, it also creates a heavy burden on the already resource-constrained and stretched national health-care system, particularly the blood transfusion system. A significant proportion of the blood transfusions carried out in Pakistan are used for thalassemia patients, but the exact figures also remain unknown. There is a need to better address the thalassemia situation and concomitant burden on the national health care and blood transfusion systems in Pakistan. As no baseline survey has ever been conducted in Pakistan, there are no credible statistics about any aspect of thalassemia in the country. Basic epidemiological and clinical data about the Pakistan thalassemia population do not exist. Information is also not available about treatment facilities and their access to the patients. Without this basic information, it is difficult to convince the policy-makers about allocating resources to control and prevent the thalassemia.


  Regulatory Oversight of Thalassemia in Pakistan Top


Thalassemia remains a significant public health concern in Pakistan even though in Sindh and Balochistan provinces, thalassemia prevention legislations do exist.[4],[5] These legislations propose mandatory premarital screening without properly taking into consideration the peculiar dynamics of thalassemia in Pakistan (nonrandom distribution of thalassemia genes) and the current state of the primary and secondary health-care systems. The thalassemia gene in Pakistan is not randomly distributed in the population but is restricted mostly to the affected families where intermarriages are common, leading to gene entrapment and proliferation.[6] Therefore, mass screening is neither cost-effective nor a practical strategy for a country like Pakistan. In addition, the legislations neither outline the implementation mechanism nor have the required financial and human resources been allocated to translate them into action. The legislations have been drafted without a public discourse or any dialogue with the thalassemia community.


  Transfusion-Transmitted Infections and Adverse Reactions in Thalassemics Top


Blood safety has a particular relevance in Pakistan due to high prevalence of transfusion transmissible infections, mainly hepatitis B and C, and in some cases, even HIV/AIDS, in chronic transfusion recipients such as thalassemics.[7] The main culprit in this regard is the common use of rapid manual screening kits that are not properly evaluated and validated. In general, these kits have poor sensitivity and are unable to detect low- or medium-grade infections and thus show false-negative results.[8] As a result, unsafe blood transfusions are an important driver of the hepatitis epidemic in the country. The purchase and validation of blood screening kits need to be properly regulated by the government.

One of the common side effects of frequent blood transfusions is the development of alloantibodies in the thalassemia patients, which cause destruction of the transfused red blood cells unless they are perfectly matched.[9] This causes a reduction in the intervals between subsequent transfusions and other complications in addition to misery, further risk of acquiring infection and expense. This hazard can be prevented by the routine use of leukocyte filters during blood transfusions as recommended for all patients, especially for the chronic transfusion recipients.[10] However, the additional cost involved is a barrier in the routine use of these leukocyte filters. The market cost of a single-use leukocyte filter is approximately 10 US dollars. About half of this market sale cost is the customs duty (personal communication). If the government could waive off this customs duty, the leukocyte filters can become more affordable, and hence, improve the quality of treatment of the thalassemia patients.


  Thalassemia Stakeholders in Pakistan Top


In Pakistan, it is estimated that about 2.7 million blood donations are collected every year out, of which about a fourth are believed to be consumed by the thalassemia patients.[11] The government of Pakistan is making strenuous efforts to reform the blood transfusion system in the country through the safe blood transfusion program (SBTP) with the financial support of the German Government and the technical assistance of the World Health Organization (WHO). The program is making efforts to manage the system according to the international recommendations, and one of the most important beneficiaries of these reforms is the thalassemia cohort of patients in Pakistan. As a result of the increased awareness about thalassemia, more cases are now being diagnosed and much earlier than before. As the public sector hospitals cannot cater to a large number of thalassemia patients, there has been a proliferation of private/nongovernment organizations (NGO) thalassemia centers across the country, particularly in the larger urban centers. However, the exact number of these centers either in the public or the private/NGO sector remains unknown. The standard of services in these centers varies. The centers in the private/NGO sector are often established on philanthropic principles by the affected families, but many of these centers lack the required technical expertise. More emphasis is paid on getting blood transfusions, where iron chelation therapy and other medical support are often neglected. The life span of the patients has no doubt increased as a result of blood transfusions, but in the absence of simultaneous removal of excess iron and other medical coverage, the overall management is compromised. As a result, many patients in Pakistan present with complications or signs of mismanagement. As the patients become adolescents, they require multidisciplinary care, which is not institutionally available in the country.

Despite this generally dismal picture, many centers exist which take good care of their patients. Some of these centers are so well managed that patients appear completely normal and healthy similar to the countries where the thalassemia patients are well looked after. These patients are well motivated, pursue higher education, follow a career, earn their livelihood, contribute to society, and even get married.


  Conclusion and Future Directions Top


Several countries, including Iran,[12] Cyprus,[13] Italy,[14] and Greece[15] had a much higher burden than Pakistan but managed to successfully eradicate thalassemia from their society. These countries have not reported any new thalassemia major births for many years. At the same time, these countries have developed excellent healthcare programs for properly managing their existing thalassemia population.[16] Unfortunately, Pakistani thalassemia patients and their families have no real voice. In the absence of proper health regulatory system and the chronic shortages of blood and other resources, the patients and their families need a national-level platform to share their grievances, experiences, and expectations. There is also a need to have a platform at the federal level from where the national effort to prevent and manage thalassemia in the country can be initiated, planned and translated into action. This platform, a “Technical Advisory Group (TAG) on Thalassemia” should deliberate on developing a national narrative through national consultations involving experts, NGOs, patients, parents, and other stakeholders. The objective of establishing TAG on thalassemia is to identify and develop consensus on all aspects of thalassemia management and control in the country and develop uniform standards including advocacy, prevention and control strategies, patient-parent rights, communication plan, management guidelines, prenatal and routine investigations and diagnosis, uniform effective legislation, transfusion protocols, research, and development. The outcome of this effort should be a comprehensive National Thalassemia Policy with a consensus strategy to manage all aspects of thalassemia in Pakistan.[17]

The SBTP is leading this effort, and in the past few years, it has interacted extensively with the national thalassemia stakeholders and international partners, including Thalassemia International Federation (TIF) and the WHO. All the partners support the SBTP initiative and expect the SBTP to organize the national thalassemia prevention and control efforts and narrative. The SBTP, the TIF, and the national stakeholders are also supporting it. The prevention of thalassemia will reduce the one-third burden on blood transfusion services. Such an approach was adopted in other countries and yielded excellent results. There is no reason why a similar approach, backed by strong political commitment, cannot succeed in Pakistan.

Acknowledgments

We appreciate the support extended by Prof. Cees Th. Smit Sibinga, IQM consulting for International Development of Quality Management in Transfusion Medicine, Netherlands, for critically reviewing the manuscript.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Cousens NE, Gaff CL, Metcalfe SA, Delatycki MB. Carrier screening for beta-thalassaemia: A review of international practice. Eur J Hum Genet 2010;18:1077-83.  Back to cited text no. 1
    
2.
Alwan A, Modell B. Recommendations for introducing genetics services in developing countries. Nat Rev Genet 2003;4:61-8.  Back to cited text no. 2
    
3.
Chonat S, Quinn CT. Current standards of care and long term outcomes for Thalassemia and sickle cell disease. Adv Exp Med Biol 2017;1013:59-87.  Back to cited text no. 3
    
4.
The Sindh Government Gazette. The Sindh Prevention and Control of Thalassemia Act, 2013, Act No. I of 2013. Provincial Assembly of Sindh. Available from: http://www.pas.gov.pk/uploads/acts/Sindh%20Act%20No.I%20of%202014.pdf. [Last accessed on 2019 Oct 11].  Back to cited text no. 4
    
5.
The Balochistan Gazette. The Balochistan Prevention and Control of Thalassemia Bill, 2015, Act No. XIV of 2015. Balochistan Provincial Assembly Secretariat. Available from: http://pabalochistan.gov.pk/pab/pab/tables/alldocuments/actdocx/2018-10-23%2012:23:49act-14-2015.pdf. [Last accessed on 2019 Oct 10].  Back to cited text no. 5
    
6.
Ahmed S. Thalassaemia in Pakistan. J Islamic Intl Med Coll 2018;13:50-1.  Back to cited text no. 6
    
7.
Farooq A, Waheed U, Zaheer HA, Rauf A, Arshad A, Arshad M. Incidence of hepatitis B and C viruses in thalassaemia major patients. Pak J Zool 2018;50:1191-4.  Back to cited text no. 7
    
8.
Waheed U, Abdella YE, Saba NE, Arshad M, Wazeer A, Farooq A, et al. Evaluation of screening effectiveness of hepatitis B surface antigen and anti-HCV rapid test kits in Pakistan. J Lab Physicians 2019;11:369-72.  Back to cited text no. 8
[PUBMED]  [Full text]  
9.
Waheed U, Arshad M, Saeed M, Wazeer A, Farooq A, Arshad A, et al. Spectrum of alloimmunization among multitransfused beta-thalassemia major patients. Glob J Transfus Med 2019;4:39-44.  Back to cited text no. 9
  [Full text]  
10.
Rachmilewitz EA, Giardina PJ. How I treat thalassemia. Blood 2011;118:3479-88.  Back to cited text no. 10
    
11.
Safe Blood Transfusion Programme. Annual Data Collection Report 2018. Available from: https://www.sbtp.gov.pk/wp-content/uploads/2019/10/National-Data-Collection-Report-2018.pdf. [Last accessed on 2019 Nov 12].  Back to cited text no. 11
    
12.
Hashemieh M, Timori Naghadeh H, Tabrizi Namini M, Neamatzadeh H, Hadipour Dehshal M. The Iran Thalassemia Prevention Program: Success or failure? Iran J Ped Hematol Oncol 2015;5:161-6.  Back to cited text no. 12
    
13.
Kalokairinou EM. The experience of β-thalassaemia and its prevention in Cyprus. Med Law 2007;26:291-307.  Back to cited text no. 13
    
14.
Cao A, Rosatelli MC, Galanello R. Control of beta-thalassaemia by carrier screening, genetic counselling and prenatal diagnosis: The Sardinian experience. Ciba Found Symp 1996;197:137-51.  Back to cited text no. 14
    
15.
Loukopoulos D. Current status of thalassemia and the sickle cell syndromes in Greece. Semin Hematol 1996;33:76-86.  Back to cited text no. 15
    
16.
Cao A, Kan YW. The prevention of thalassemia. Cold Spring Harb Perspect Med 2013;3:a011775.  Back to cited text no. 16
    
17.
Zaheer HA, Waheed U. Development of a national thalassemia policy in Pakistan. Glob J Transfus Med 2017;2:69-70.  Back to cited text no. 17
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  In this article
Introduction
Aims of Review
Method of Review
Thalassemia in P...
Regulatory Overs...
Transfusion-Tran...
Thalassemia Stak...
Conclusion and F...
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