Bridging the care gap

May 21, 2023

Thalassemia can be prevented by raising awareness and conducting premarital and prenatal screenings

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halassemia is an inherited (genetically transmitted) autosomal recessive disorder acquired from parents (either or both). It affects the red blood cells due to a genetic alteration, leading to the diminution of haemoglobin’s alpha and/ or beta-globin chains. This results in low production of red blood cells and a lack of oxygenated blood supply to the body (anaemia).

Thalassemia major affects nearly 56,000 pregnancies worldwide, of which about 30,000 have thalassemia-major. Most of the cases are reported in underdeveloped countries. The disease is prevalent in the Mediterranean, Middle East, India, Pakistan and Central and South East Asia. It has also been reported in some African countries.

Every year 100,000 children are born with thalassemia. About 80-90 million people are carriers of beta thalassemia, constituting 1.5 percent of the world’s population. The treatment for thalassemia-major can be exceedingly expensive and may involve stem cell transplants, continual blood transfusions and chelation therapy. It is, therefore, better to prevent the inherited defect (thalassemia) before birth rather than keep trying to treat the condition after birth.

In 1994, World Thalassemia Day was established and organised by the Thalassemia International Federation (TIF), a non-profit organisation founded in 1986 by Panos Englezos. The day was first observed in memory of Panos’s son, George, who had died from the disease.

May 8 marks World Thalassemia Day. The objective is to create awareness of thalassemia, its symptoms and ways to live with it and to alert the general public to the importance of consulting a doctor before marriage if a person suffers from thalassemia.

This year, the theme of International Thalassemia Day was Strengthening Education to Bridge the Thalassemia Care Gap, focusing on improving the skills and knowledge of the patients affected by the disease.

Although thalassemia cannot be prevented, the risk can be reduced by conducting genetic tests for the presence of the thalassemia gene, prenatal screening, pre-implantation genetic diagnosis and provision of public awareness and education about this disease.

Symptoms of the disease may include fatigue, weakness, pale or yellowish skin, slow growth, abdominal swelling and dark urine. Some babies show signs and symptoms of thalassemia at birth; others develop them during the first two years of life.

In Pakistan, B-thalassemia (a blood disorder that reduces the production of hemoglobin) trait frequency is 5.4 percent. There are approximately 13.2 million carriers in Pakistan. About 6,000 affected children are born per year, with a frequency of 17 children per day.

There are 60,000 registered thalassemia patients in Pakistan. A high number of carriers and increased incidence of consanguineous marriages (60 percent first cousin, 15 percent second cousin, 15 percent inter-kinsfolk) are the main reason for the high number of thalassemia-major cases.

There are 60,000 registered thalassemia patients in Pakistan. A high number of carriers and increased incidence of consanguineous marriages (60 percent first cousin, 15 percent second cousin, 15 percent inter-kinsfolk) are the main reason for the high number of thalassemia-major cases.

Pakistan is among the highest thalassemia burden countries in the world. In the absence of a coherent national policy and strategic plan, the number of cases in the country is believed to be increasing. However, the exact burden of the disease is unknown. As a result, despite being a preventable blood disorder, thalassemia in Pakistan continues to grow in number and cause misery to patients and their families.

The rising number is burdening the already resource-constrained and stretched national healthcare system, particularly the blood transfusion system. As a significant proportion of the blood transfusions carried out in Pakistan are used for thalassemia patients.

In Pakistan, it is estimated that about 2.7 million blood donations are made annually, out of which about a fourth are used for thalassemia patients.

Since the public sector hospitals are not equipped to cater to all thalassemia patients, a number of private/ non-government organisation (NGO) thalassemia centres have come up across the country, particularly in the larger cities. The exact number of these centres, either in the public or the private/ NGO sector, remains undocumented.

The standard of services at these centres varies. The centres in the private/ NGO sector are often established on philanthropic principles by the affected families. Many of these centres lack the required technical expertise. Moreover, the lifelong transfusion therapy, along with iron chelation therapy, puts an enormous financial burden on parents, society and blood banks.

According to the World Health Organisation, if for any disease, the birth rate of the affected infant exceeds 0.1/ 1,000, an effective screening programme should be initiated. There is no national screening programme in Pakistan; only a few NGOs are offering screening programmes.

The main preventive strategies for thalassemia include appropriate information about the disease and the importance of screening through awareness programmes, screening and counselling of target families, screening of the general population and premarital and prenatal screening.

The Thalassemia Federation of Pakistan (TFP) is the umbrella organisation for the societies working for thalassemia management in the country. The federation aims to provide the associations with any assistance they need, including treatment and prevention services for thalassemia patients.

There are 25,000 children registered with the Thalassemia Federation of Pakistan. It is estimated that the actual figure may be around 100,000.

Sundas Foundation is a major organisation established in 2000 as a Blood Transfusion Centre. In the last 23 years it has supplied more than 500,000 units of healthy and screened blood and blood products to thalassemia patients. Fatimid Foundation is one of the largest blood transfusion services providing screened blood to thousands of patients every month through its nine centres across Pakistan.

The writer is a playwright and freelance journalist. He and can be reached at and his blogging site:

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