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What Is Thalassaemia?

Thalassaemia is an inherited blood disorder caused by a genetic defect. The condition causes the body to produce abnormal haemoglobin in red blood cells, which in turn causes anaemia.

Haemoglobin within red blood cells is important because it is the primary molecule that carries oxygen around the body. Hence, the lack of functional haemoglobin causes a malfunction in oxygen carrying capability.

Types of thalassaemia

There are two types of thalassaemia: Alpha thalassaemia and Beta thalassaemia.

Patients with Alpha thalassaemia carrying one faulty gene will experience no observable effect. Patients with two faulty genes experience mild anaemia. Patients with three faulty genes will result in chronic anaemia requiring regular blood transfusions. Four faulty genes are incompatible with life.

Patients with Beta thalassaemia can be divided into several forms. Beta thalassaemia major, also called BTM, requires regular blood transfusions and is the most serious. Beta thalassaemia intermedia, also known as BTI or non-transfusion dependent thalassaemia or NTDT, is a milder form of the condition and the severity differs between individuals, from mild anaemia to the need for regular blood transfusions.

Carriers of either Alpha or Beta Thalassaemia genes may not know their carrier status and can only confirm it by blood testing. Knowing one’s carrier status is important for people planning to have children, as thalassaemia is an inheritable disease.

People of Mediterranean, Middle Eastern, African or Asian descent are more likely to be carriers. Thalassaemia is common in these regions because it helps to protect the carriers against malaria.

Causes of Thalassaemia

Thalassaemia is a genetic disease and cannot be transmitted from one person to another.

Treatment for Thalassaemia

The most common treatment for beta thalassaemia major (BTM) is to have regular blood transfusions every four-to-six weeks to reinfuse functional haemoglobin in the body. This treatment can raise iron levels in the body to dangerous levels, risking heart, liver and hormone problems. Chelation may be performed to reduce iron levels in such situations..

Bone marrow transplants may cure thalassaemia in young individuals below the age of sixteen but potential cases should be considered individually.

Stem cells in umbilical cord blood transfusion have also been used for thalassaemia treatment.

For Beta thalassaemia intermediate (BTI) patients, treatment will depends on the severity of a person’s symptoms. This can range from folate supplements to blood transfusions.

People with BTM are recommended to have a diet high in calcium and vitamin D and to take regular weight-bearing exercise to help strengthen their bones.

Complications of Thalassaemia

  • Hypersplenism
  • Delayed puberty
  • Stunted growth
  • Irregular heart rhythms
  • Hepatitis, Hepatic Cirrhosis
  • Osteoporosis

Thalassaemia Myths

It is important to know the truth about thalassaemia and not to succumb to many myths surrounding the disease. Here are a few samples of misleading information.

Asymptomatic parents will not pass the disease to their children.

Myth: Faulty genes can be transmitted vertically from parent to child.

If only one parent is a carrier, the child will not inherit the genetic disorder.

Myth: As long as one parent is a carrier, every child has a chance of inheriting the genetic disorder and can only be confirmed with blood evaluation.

Routine blood tests during a person’s lifetime would have demonstrated carrier status.

Myth: Only specific blood tests for thalassaemia detect carrier status.

If a baby is a carrier, he or she will get ill later in life.

Myth: Carriers do not develop full blown thalassaemia but will have a chance of passing the faulty gene to subsequent generations..

If both parents are carriers, the 25% chance of a child having the disorder would mean one out of four babies will be ill.

Myth: Every pregnancy should be considered as an independent event for statistical evaluation. Hence every baby born has a 1 in 4 chance of inheriting the disease.

Thalassemia will not occur in the Caucasian population.

Myth: While thalassemia occurs more frequently in certain ethnic groups, it has also been found in Caucasians.

It is imperative that I keep my carrier status a secret.

Myth: Blood relatives often carry similar genes. Hence sharing one’s carrier status can increase awareness and understanding amongst the community.

My child is only a carrier so I will not discuss it with him.

Myth: It is important to inform a child of his/her carrier status because the faulty gene can be transmitted to future generations.

Only women need screening tests.

Myth: Both sexes need to be tested as a combination of genes is inherited by a child.

Marrying someone from a different ethnic background avoids children being affected.

Myth: Parents of any background have the potential to pass on carrier status or thalassaemia.

Being a carrier protects against malaria.

Partly true: Thalassaemia carriers have a certain degree of protection against malaria.

Thalassaemia can be caught from blood transfusions.

Myth: Thalassaemia is a genetic disorder. It is not transmitted through blood transfusions.

Thalassaemia needs to be treated with iron supplements.

Myth: Use of supplements should be done under medical advice.

Source by Tzun Hon Lau

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