SUMMARY


Journal of Islamabad Medical & Dental College (JIMDC); 2016:5(4):152-153 

 152 

 Editorial 
 

Management of Thalassemia in Pakistan 
 

Naghmi Asif1 and Khalid Hassan2 
1.Associate Prof, Department of Pathology, Islamabad Medical & Dental College 

2.Prof/HOD, Department of Pathology, Islamabad Medical & Dental College 

 

Beta Thalassemia is the most common genetic disorder. The 

disorder is prevalent worldwide. About 3% of the world’s 

population carries the genes for Beta Thalassemia and it is 

estimated that every year about 60000 thalassemic babies 

are born all over the world.1 Approximately 79% of affected 

births are in the Asian population. Carrier rate in Pakistan 

ranges between 5-8%, and around 5000 children are 

diagnosed each year with beta thalassemia in Pakistan.2 

Consanguinity is the main factor leading to high prevalence 

in Pakistan. There are 25,000 children registered with 

thalassemia federation of Pakistan however the actual figure 

is much higher which may be around one lac, as a lot many 

are living in villages that are not registered with any 

thalassemia center.  

The main components of management of thalassemia 

include 1. Conservative management which take into 

account, medical consultation, lab investigations, safe blood 

transfusion, chelation therapy, treatment with HbF 

augmenting agents, 2. Curative management comprising of 

bone marrow transplant and 3. Preventive management 

comprising of thalassemia screening and genetic 

counselling. Accomplishment of ideal management thus 

requires multidisciplinary team addressing all these aspects. 

However, very few centers furnish for all these components 

of optimal thalassemia management under one roof. 

Management of Thalassemia in developing countries like 

Pakistan poses a major challenge. There are more than 40 

Thalassemia centers across the country. Majority of them are 

giving only transfusional support. Government does not 

provide required support and majority of burden is borne by 

NGOs. The main stay of conservative management is blood 

transfusion, iron chelation, management of complications of 

iron overload, and prevention. Frequent blood transfusion 

leads to iron overload requiring treatment with iron 

chelating agent Serum ferritin level vary widely and could 

not be controlled due to poor compliance to chelation. The 

main reason for this noncompliance is the cost of treatment, 

that is beyond the reach of the common man. Majority of 

patients thus have high ferritin level, and present with 

complications of iron overload. Pakistan Baitulmal is 

providing some support in this regard but majority of 

patients remain unaddressed.  

As far as transfusion therapy is concerned, majority of 

centers are trying to fulfil needs of patients but there are 

reservations about screening methods. The well-functioning 

blood bank is of primary importance for the management of 

thalassemia. Its functions are not only to provide the regular 

supply of blood for the treatment of thalassemia, but also to 

ensure supply of safe blood, in order to minimize the risk of 

transfusion-transmitted infections. Various studies have 

shown that 30-40% thalassemics show seropositivity for 

HCV and about 4-6 % become HBV positive, despite the 

availability of vaccine for Hepatitis B.3-5 Though, some 

studies have reported that for the past 10-12 years the better 

screening methods in blood banks in Pakistan have 

significantly reduced the frequency of these diseases. 

Further improvements need to be done to implement 

uniform screening of blood throughout the country.6  

Another big dilemma is that, many of the private centers do 

not have a full time treating physician/clinical hematologist. 

As regards curative aspect, there are very few centers 

(public and private) throughput the country that are offering 

bone marrow transplant and due to high cost, it is out of 

reach of majority of people.  

Regarding preventive aspects, awareness and availability of 

antenatal diagnosis is limited. The main preventive 

strategies for thalassemia include appropriate information of 

the disease and importance of screening through awareness 

programmes, screening and counselling of target families, 

premarital and prenatal screening. Premarital and prenatal 

screening have significantly reduced the prevalence of β 

Thalassemia in various countries as Italy, Greece, Cyprus, 

Iran, and Saudi Arabia with significant reduction in births of 

affected children.7 In Pakistan premarital screening and even 

antenatal screening is almost nonexistent even in urban 

areas. Some hospitals have started with antenatal screening 

and prenatal diagnosis but still due to economic constraints 

most of the couples are underprivileged. 

There is thus a dire need for dedicated thalassemia unit in all 

big hospitals that oversees all aspects of treatment and where 

patients may be referred to the specialists whenever 

required. The centre should offer free medical consultation, 

genetic counselling, specialized pathology investigations, 

safe blood transfusion and chelation therapy to the patients. 

There should be multidisciplinary team comprising of 

Hematologist, Pediatrician, Cardiologist, Endocrinologist, 

Psychiatrist/Psychologist, Social worker and dedicated and 

trained staff. The unit should also try to establish bone 



Journal of Islamabad Medical & Dental College (JIMDC); 2016:5(4):152-153 

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marrow transplant unit and offer this facility at minimum 

bearable cost. In nutshell an ideal thalassemia centre should 

have three main units; one dealing with diagnosis and 

treatment, having close liaison with pediatrician, 

endocrinologist, cardiologist, psychologist etc. One unit 

focusing on preventive measures including screening and 

genetic counselling programme and the third one bone 

marrow transplant unit. The centre should also have 

collaboration with national and international organizations. 

The centre should aim at providing greatest possible level of 

comfort and convenience for patients and their families and 

ensure their long and quality life. 

References 
1. Eleftheriou A. About thalassemia. Thalassemia Int Pub 2003; 

2: 11-2. 

2. Ansari SH and Shamsi TS. Thalassaemia Prevention 
Programme. Hematology updates 2010:23-28 3. Rehman A. 
Beta Thalassemia Prevention and Pakistan Pak Paed J 2011; 
35(2): 55-62. 

3. Khattak I, Shah M , Ahmed I, Rehman A , Sajid M. frequency 
of hepatitis B and hepatitis C in multitransfused beta 
thalassaemia major patients in district Swat.  Journal of 
Saidu Medical College 2013; 3(2).   

4. Hussain H, Iqbal R, Khan MH, Iftikhar B, Aziz S, and Burki 
FK et al. Prevalence of hepatitis C in beta thalassaemia 
major.. Gomal Journal of Medical Sciences 2008;6(2): 87-90 

5. Ali MR, Arif M, Arif A and Fatima T. Viral Hepatitis C in 
Thalassaemia: Determination of Antibody HCV Frequency in 
Mutitransfused Thalassaemia Patients A.P.M.C 2016;10 (1): 
20-25. 

6. Saqib H. Ansari, Tahir S. Shamsi, Mohammed Tahir Khan, 
Kousar Perveen, Tasneem Farzana, Sajida Erum and Iqra 
Ansari Seropositivity of Hepatitis C, Hepatitis B and HIV in 

Chronically Transfused β-Thalassaemia Major Patients 
Journal of the College of Physicians and Surgeons Pakistan 
2012; 22 (9): 610-611 

7. Baig SM, Sabih D, Rahim MK and Azhar A et al.Beta 
Thalassemia in Pakistan: A Pilot Programme on Prenatal 
Diagnosis in Multan. J. Pediatic Hematol Oncology 
2012;34:90-92