The looming case of Thalassemia in the Maldives What is Thalassemia?

The thalassaemias are a heterogeneous group of the haemoglobin disorders in which the production of normal haemoglobin is partly or completely suppressed as a result of the defective synthesis of one or more globin chains. Several types of thalassaemia have been described and named according to the affected globin-chain, the most common types of clinical importance being alpha and beta thalassaemia.

The Problem
The low lying island nation Maldives is not only known for its white sandy beaches, it is also known as a world hot spot for thalassemia. It is estimated that 1 in 120 live births is a thalasaemia major. Moreover, there are 563 thalasaemics in Maldives currently who require regular blood transfusions. Eventhough the government spends hundreds on each patient annualy, on average a mortality rate of 5 is recorded. In addition, due to the nature of the society families encounter a lot of hurdles when trying to bring up a thalassemic child. All these indicate that our beloved island nation is facing a colossal problem. A problem which should be addressed very closely very fast.

The Incursion of Thalassemia in Maldives

Thalassemia is a genetically inherited disease and it is not infectious therefore it cannot be passed from one person to the other by physical contact nor through blood transfusion, food or air. Contemporarily there are 760 registered thalasaemics in the Maldives out of which 563 are alive. Around 18.1% of the Maldivian population is found to be carriers of the hereditary blood disorder, beta thalassemia. Currently this accounts to be the highest concentration of carriers in the world for an individual country. In addition, in the Maldives, 1 in every 30 marriages is between 2 beta carriers.
!"#$%&#'(#)'*+$(',-%.%//%#012/'1('3%.41"#/'*#,)##('' 5667'%(4'5688'
(&# !&# $&# '&# &# $&&)# $&&*# $&'&# $&''# !"# !$# $%# $$#

insert genetic diagram here

Challenges faced by Thalassaemics in the Maldives

Its very common for thalassaemics to be treated very differently in the society. They are viewed as individuals who are both mentally and physically weak and this results them to be socially rejected. This often causes the patients be affected psychologically which often leads to mental unstability. Moreover, its generally very difficult for a Thalassaemic to find someone for him/her to start a relationship. This is mainly because majority of the people believe that thalassaemics cannot live a normal healthy life. Also, since most undergo blood transfusion therapy the need for blood donors is high. On average 150 pints of blood is needed per week for Thalassaemics in Maldives. Which means we need 150 people per week to donate blood. Since, they have to depend on donors for blood they face challenges in this context as well.

Diagnosis of Thalassemia
An individual born with thalassemia will show no visible signs of the disease. Symptoms appear during the first year of life. Pre-implantation genetic diagnosis (PGD) : PGD is similar to in-vitro fertilisation (IVF). IVF is a method of helping infertile couples conceive by surgically removing an egg from the woman's ovaries and fertilising it with the mans sperm in a laboratory. As with IVF, PGD involves removing eggs from a womans ovaries, which are fertilised using a sample of sperm taken from her partner. The fertilised embryo can be tested for thalassaemia. If the results are negative, the embryo can then be implanted into the womans womb. Antenatal Screening: The purpose of antenatal screening (screening that is carried out during pregnancy) is to check for inherited disorders such as sickle cell anaemia and to provide parents with information they need to make informed decisions. Pregnant women are routinely screened for the thalassaemia trait. If they test positive their partner will also be offered the test. If both parents have the thalassaemia trait, there is a 1 in 4 chance their baby will have thalassaemia. Afterbirth: Newborn babies are usually not tested for thalassaemia. This is because during the first 6 months blood tests arent usually reliable and also because thalassaemia doesnt pose to be an immediate threat to a babys life. If the baby starts showing symptoms blood tests can be carried out inorder to know whether the baby is thalassemic or not. Laboratory Testing: Laboratory tests for thalassaemia include a routine blood test known as a Complete Blood Count (CBC), which includes measuring the level of haemoglobin and other parameters related to the number and volume of red blood cells and concentrational Haemoglobin known as Mean Corpuscular Volume (MCV) and Mean Corpuscular Haemoglobin (MCH) respectively.

Treatment of Thalassemia
Blood transfusion therapy: Regular blood transfusions greatly contribute to the quality and length of life of patients with thalassaemia major. Blood is transfused inorder to maintain the Hb levels not less than 9 10g% Regular blood transfusions on a life-long basis can counteract or even prevent the development of symptoms such as poor growth, enlarged liver and spleen, and facial and other bone deformities. This treatment leads to excessive accumulation of iron as the human body has no significant capability of excreting this iron and is known as iron overload. The method of removing this excessive iron is known as iron chelation therapy some drugs such as Desferal, Deferiprone and Asunra are available in Maldives for iron chelation therapy.

Permanent Cure for Thalassaemia

Bone marrow transplantation (BMT) is the permanent cure for thalassaemia. BMT or hematopoietic stem cell transplantation is a medical procedure in the field of hematology and oncology that involves transplantation of hematopoietic stem cells. In a bone marrow transplant, the patients diseased bone marrow is destroyed and healthy marrow is infused into the patients blood-stream. In a successful transplant,the new bone marrow migrates to the cavities of the large bones,engrafts and begins producing normal blood cells. If bone marrow from a donor is used,the transplant is called an allogeneicBMT;the new bone marrow infused into the patient must match the genetic makeup of the patients own marrow as much as possible. A blood test,called HLA typing,is needed to know if donors bone marrow matches the patients. The whole process takes about two to three weeks and the patient usually needs to spend 3-8 months under the care of the hospital.

Benefits
Apart from curing their thalassemia permanently a patient who has undergone BMT would not have to undergo blood transfusions and have high chances of being normally accepted by the society.

Risks
Even though BMT is the permanent cure for thalassaemia it has a rather high failure rate. In the Maldives, since 1992, 32 have undergone BMT out of which 11 had passed away during the process. Therefore, majority of patients are reluctant to undergo the transplant and continue to under go blood transfusion therapy. In addition, respiratory status is an important function that may be compromised during transplant. Infection, inflammation of the airway, fluid overload, graft-versushost disease, and bleeding are all potential life-threatening complications that may occur in the lungs and pulmonary system.

Alternate Solution
Contemporarily the number of available alternate solutions are less. One alternate solution is gene therapy. What is gene therapy? Gene therapy is the insertion of genes into an individual's cells and tissues to treat a disease, such as a hereditary disease in which a deleterious mutant allele is replaced with a functional one. Although the technology is still in its infancy, it has been used with some success. Scientific breakthroughs continue to move gene therapy toward mainstream medicine. Proof A phase I/II clinical study run by researchers at Harvard Medical School and the University of Paris has added a new gene into a mans cells and freed him from a lifetime of blood transfusions. The patient has beta-thalassaemia. Like many with beta-thalassaemia, the man has been dependent on blood transfusions since childhood. After his experimental gene therapy he has not needed a transfusion for 21 months.

Prevention of Thalassaemia in Maldives