What is Thalassaemia?

Thalassemia is a blood related genetic disorder which involves the absence

of or errors in genes responsible for production of haemoglobin, a protein
present in the red blood cells. The abnormal haemoglobin formed results in
improper oxygen transport and destruction of red blood cells. People with
thalassemia make less haemoglobin and have fewer circulating red blood
cells than normal, which results in mild to severe anaemia.
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Types of Thalassaemia
There are two types of Thalassaemia. They are:
1) Alpha Thalassaemia:
Alpha-thalassemia also has two serious types, which are hemoglobin H
disease and hydrops fetalis. Haemoglobin H disease can cause bone
issues. The cheeks, forehead, and jaw may all overgrow. Additionally,
hemoglobin H disease can cause:
Jaundice
An extremely enlarged spleen
Malnourishment
Hydrops fetalis is an extremely severe form of thalassemia. It occurs
before birth. Most individuals with this condition are either stillborn or
die shortly after being born.
2) Beta Thalassaemia:
Beta-thalassemia comes in two serious types, which are thalassemia
major, or Cooleys anemia, and thalassemia intermedia. The symptoms
of thalassemia major generally appear before a childs second birthday.
The severe anemia related to this condition can be life-threatening.
Other signs and symptoms include:
Fussiness

Paleness
Frequent infections
A poor appetite
Failure to thrive
Jaundice
Enlarged organs

This form of thalassemia usually requires regular blood transfusions.

Thalassemia intermedia is a less severe form of beta-thalassemia.
People with thalassemia intermedia dont need blood transfusions.
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Thalassaemia in Maldives
Maldives has the highest percentage per head of beta Thalassaemia carriers
in the world. 18.1% of the population comprises of beta Thalassaemia
carriers whereas 2.1% are alpha carriers.

fig.1

The fig.1 graph above shows the birth rate of thalassaemiacs over the
years.
Many children have died due to lack of awareness and medical facilities in
Maldives. An average of 6 children die due to Thalassaemia per year as the

latest statistics show (since 2000). A national register of Thalassaemia

patients has been kept over many years, which includes 563 currently livingthis is roughly 1.6/1000 of the total population. 288 are living in the capital
Male city while roughly the other half live in atolls.

A situation analysis of current services Thalassaemia was prepared based on

information provided by local health professionals. This is in order to adapt
international guidelines to the needs and the ability of the country to adopt
them in the near future, since new technology is needed and organizations
have to be addressed. Issues that have to be considered include the
difference in care of patients living in and near Male compared to those in
the Atolls, the need for continued supplies of drugs and consumables and
issues of collaboration between blood banks and between clinicians of the
Thalassaemia Centre and the hospital when inpatient care is needed. Those
living in Male are treated at the National Centre for Thalassaemia and other
Haemoglobin disorders. Those living in atolls are transfused in regional
hospitals (there are three) while some are transfused in smaller island health
units. Some patients come to Male for check- ups but many cannot afford
the trip or find it difficult because of distance. Doctors in the regional
hospitals are mainly expatriates who stay only for 1-2 years and so there is a
high turnover and therefore, lack of expertise.

Possible solutions for Thalassaemia:

Pre-natal diagnosis: Although Thalassaemia cannot be prevented it can

be identified before birth by pre-natal diagnosis. Some methods of
prenatal diagnosis include:
o Chorionic villus sample (CVS): This test can be done after 10
weeks of pregnancy. A small piece of the placenta (the afterbirth)
is taken and sent for testing. The result is usually available within
one week.
o Amniocentesis: This test can be done from around 14 weeks of
pregnancy. A small amount of the liquid around the baby, called
amniotic fluid, is taken and sent for testing. The result is usually
available within one week. In both of these tests, Chorionic villus
sample and Amniocentesis, but there is increased risk of
miscarriage of about 1% as a result of these diagnostic tests. The
risk calculation does not take into account the background

miscarriage rate which may occur even in women who have not
had any procedure done.
o Fetal blood sample (FBS): This test can be done around 16 weeks
of pregnancy, but can be done up to delivery of the baby. A small
amount of blood is taken from the cord and sent for testing. This
is rarely offered as it has a higher risk of miscarriage than the
other diagnostic tests above. The result is usually available in
two to four days.
The sample for all these tests is not taken from any part of the babys
body.
Genetic Counseling: People who have Thalassaemia or people who
have the Thalassaemia trait can receive genetic counseling to avoid
passing the disorder. Both members of the couple at risk are counseled
in a non-directive way. The nature of the disease, the implications of
being carriers and the reproductive choices are analyzed, specifically
those concerning birth control, including prenatal or preimplantation
diagnosis and the possibility, in case of affected fetus HLA compatible,
to not interrupt pregnancy as for fetal testing, detailed information is
offered regarding the risk of fetal mortality, the risk of misdiagnosis,
and the mortality and morbidity of an abortion in case of affected
fetus.
Proper blood transfusion and iron chelation:
The purpose of
transfusion is twofold: to improve the anemia and to suppress the
ineffective erythropoiesis. Chronic transfusions prevent most of the
serious growth, skeletal, and neurological complications of thalassemia
major. However, once started, the transfusion-related complications
become a major source of morbidity. Standards must be developed and
maintained to ensure a safe and rational approach to the use of blood
transfusions in the management of these rare disorders. The decision
to start transfusions is based on inability to compensate for the low
hemoglobin (signs of increased cardiac effort, tachycardia, sweating,
poor feeding, and poor growth), or less commonly, on increasing
symptoms of ineffective erythropoiesis (bone changes, massive
splenomegaly). The decision to institute chronic transfusion should not
be based exclusively on the presence of anemia. Most thalassemia
major patients require transfusions every 2-4 weeks, depending on the
individuals consumption of the infused cells.

Picture 5 (Thalassaemia major patients getting a blood transfusion)

While regular transfusions greatly contribute to the quality and length

of life of thalassemia major patients, they also leave patients with an
excess of iron in their bodies. Although iron is essential to the body,
excess iron can lead to organ failure and death. It is necessary that this
excess iron be removed, or chelated, because it stores in the vital
organs of the body, such as the heart and liver. Nowadays, drugs
designed to remove excess iron (iron chelators) have significantly
changed the prognosis of thalassemia major. Patients can grow and
develop normally, with relatively normal heart and liver functions.
Adult patients are living well and some have children of their own.
Bone marrow transplantation: Hematopoietic cell transplantation (HCT)
is the only treatment that offers a potential cure for thalassemia at this
time. HCT relies on high-dose chemotherapy to eliminate thalassemiaproducing cells in the marrow and replaces them with healthy donor
cells from bone marrow or umbilical cord blood, usually taken from a
human-leukocyte antigen (HLA) match: an identical sibling. This
therapy should be considered for all patients who have a suitable
donor. Early referral to a transplant center is recommended, as HCT
has a better outcome in younger patients. In low risk young children
with a compatible donor, the thalassemia free survival rate is 89%,
with no more need of blood transfusions; the mortality risk is 3%. The
child has to stay in the hospital for about 35 days, and he has to come
back every week for 3-6 months. In Asia the cost of a BMT is about
$25-30,000, in western countries it is up to 6 times higher

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Prevention of thalassemia in Maldives

The current preventive program focuses on discouraging the marriage of
carriers to one another, thus increasing the number of carriers throughout
the country. And in Maldives where the social circles are small, the chance of
intermarriage of carriers is high. And their carrier status will not be a
deterrence to getting married or having children. They will continue to take
the risk and hope for that 75% chance of having a normal baby.
In the Maldives thalassemia affects about 0.16% of the population, and is
found throughout the country, with the highest rate found in Kaafu atoll,
most likely because an address in Male is given at the time of registration at
the National Thalassemia Center (NTC). Apart from Kaafu atoll, the highest
rates are found in Noonu, HDh and Laamu atolls.
To date a total of 670 cases have been registered at NTC. The number of new
cases registered has not declined over the last five years, with about 28 new
cases on average being registered over the last 7 years. In fact, last year
saw an increase to 39.

fig.2

Considering that the country has two centers dedicated to thalassemia

(Society for Health Education and NTC), and the government spends roughly
$5000 per year per child for the treatment of a child with thalassemia above
12 years, this current trend raises questions whether these centers are doing
enough for the prevention of thalassemia.
The current preventive program focuses on discouraging the marriage of
carriers to one another, thus increasing the number of carriers throughout
the country. And in Maldives where the social circles are small, the chance of
intermarriage of careers is high. And their career status will not be a
deterrence to getting married or having children. They will continue to take
the risk and hope for that 75% chance of having a normal baby.
The approach has not helped in reducing the number of new cases as most
of the children with thalassemia are being born sadly, to those who know
their career status at the time of marriage, and to those who already have a
child with thalassemia. This is an important observation that needs to be
addressed in the prevention program as just the mere knowledge of the risk
has not prevented couples from having children.
The goal of the program should be to lessen the burden of thalassemia in atrisk families, accomplished not only by providing information about the risk
but also providing options for dealing with it by helping at-risk couples obtain
prenatal diagnosis and selective abortion, or by helping them to cope with
the birth of an affected child.
Thalassaemia awareness programs should be held more often to students,
and it is important that the programs stress on the importance of
Thalassaemia screening.

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