β-Thalassemia Awareness In General Population

INTRODUCTION

Pakistan's population is predicted to be 225,633,392 (225 million). In Pakistan, the β-thalassemia (β-thal) trait frequency is between 5.0 and 7.0%, implying that there are more than 10 million carriers; and each year, approximately 5000 children are diagnosed with β-thal major (β-TM) in Pakistan. Thalassemias are a diverse set of hereditary illnesses caused by a reduction in the production of the alpha or beta chains of haemoglobin (Hb). Haemoglobin is the component of red blood cells that transports oxygen. It is made up of two proteins, an alpha and a beta. If the body does not produce enough of one or both of these proteins, red blood cells do not form correctly and cannot carry enough oxygen, resulting in anaemia that begins in childhood and lasts throughout life. Thalassemia is an inherited condition, which means that at least one of the parents must be a carrier.

β-thalassemia is hereditary haemoglobin (Hb) production disorder characterised by poor Hb synthesis, which results in shorter red blood cell (RBC) survival through haemolysis and early death of RBC precursors inside the bone marrow (i.e., inadequate erythropoiesis). These illnesses cause chronic severe anaemia and bone marrow enlargement. β-thalassemia, if left untreated, causes hepatosplenomegaly, bone abnormalities due to bone marrow enlargement, and heart failure due to severe anaemia. β-thalassemia can be characterised as either β-thalassemia major (BTM), β-thalassemia intermedia (BTI), or β-thalassemia minor (carriers) based on clinical and genetic factors. Patients with BTM require regular blood transfusions for the rest of their lives, usually beginning at the age of two, and die in their first or second decade if untreated. Carriers of thalassemia minor are normally asymptomatic, but they may have moderate anaemia. When both parents are carriers, there is a 25% chance of having children with homozygous thalassemia with each pregnancy.

Thalassemia management is extremely difficult in poor nations like Pakistan.  In the nation, there are more than 40 Thalassemia treatment facilities. The majority of them solely provide transfusional help.  Government does not offer the necessary assistance, therefore NGOs shoulder the majority of the responsibility.  Blood transfusions, iron chelation, handling of iron excess problems, and prevention are the mainstays of conservative care.  Iron overload brought on by frequent blood transfusions requires therapy with an iron chelating agent.  Due to poor chelation compliance, serum ferritin levels vary greatly and are difficult to manage.  The cost of the treatment, which is out of the reach of the average person, is the primary cause of this noncompliance. A considerable majority of blood transfusions performed in Pakistan are for thalassemia patients, however exact data are unknown. There is a need to handle the thalassemia issue and the associated load on Pakistan’s national health care and blood transfusion systems more effectively.

The majority of centres are working to meet patient demands in terms of transfusion therapy, however there are concerns regarding the screening procedures. Thalassemia management is primarily dependent on a functioning blood bank. Its duties include not just ensuring a steady supply of blood for the treatment of thalassemia but also ensuring a supply of safe blood to reduce the danger of infection from transfusions. Due to the exorbitant expense, the majority of people cannot afford bone marrow transplants because there are so few public and private centres offering them across the nation. The only cure for this disease is a bone marrow transplant, which is out of reach for many parents. It is a preventable disease, but there is no national screening programme in Pakistan. Only a few NGOs are operating on their own.

Objective Of The Survey:

·         To identify the level of awareness in general population of Karachi.

·         To understand the prevalence of thalassemia

·         To spread the awareness of thalassemia and it’s prevention in common people.

·         To encourage more people to donate blood to help thalassemia patient.

Aim Of Survey

The aim of this survey is to understand people’s knowledge about Thalassemia, its impact on people’s lives, and ways to prevent it. The survey will help identify gaps in awareness, misconceptions, and areas where more education is needed. The results will be used to create educational materials and programs to increase awareness about Thalassemia and its prevention.

 

 

 

 

 

 

 

References

Khaliq, S. (2022). Thalassemia in Pakistan. Hemoglobin, 46(1), 12-14.

Bajwa, H., & Basit, H. (2019). Thalassemia.

Shah, F. T., Sayani, F., Trompeter, S., Drasar, E., & Piga, A. (2019). Challenges of blood transfusions in β-thalassemia. Blood reviews, 37, 100588.

Galanello, R., & Origa, R. (2010). Beta-thalassemia. Orphanet journal of rare diseases, 5, 1-15.

Zaheer, H. A., Waheed, U., Abdella, Y. E., & Konings, F. (2020). Thalassemia in Pakistan: A forward-looking solution to a serious health issue. Glob J Transfus Med, 5(1), 108-110.

Ishfaq, K., & Milkie, M. A. (2019). Prevention of thalassemia: a necessity in Pakistan. Rawal Medical Journal, 44(4), 660-660.

Asif, N., & Hassan, K. (2016). Management of thalassemia in Pakistan. Journal of Islamabad Medical & Dental College, 5(4), 152-153.

 

By: Amna Iftikhar