Thalassaemia

From Wikipedia, the free encyclopedia:

Thalassemia (American English) or thalassaemia (British English) is an inherited disease of the red blood cells. In thalassemia, the genetic defect results in reduced rate of synthesis of normal globin chains(c.f. hemoglobinopathy which is a structural change in a globin chain leading to instability or abnormal oxygen transport). The blood cells are vulnerable to mechanical injury and die easily. Blood transfusions on a regular basis (two to three week intervals) are used by many patients to cope with the disease and maintain a healthier lifestyle than living with no treatment; bone marrow transplants can be performed if the transfusion's main side effect - build-up of iron - itself begins to be a problem. A bone marrow transplant requires careful matching to avoid rejection and further complications.

The disease's geographical association with the Mediterranean sea was responsible for its naming: Thalassa is Greek for the sea, Haima is Greek for blood. Thalassemia occurs in all populations and ethnic groups, however the prevalence differs among different populations.

I was planning to blog this on Monday 18 Dec to promote our charity classes today(23 Dec) at The Curve, Damansara Uptown & Summit USJ but was too busy spending time on the toilet seats.

This holiday season, Herny, my counterpart from Menara Axis had an idea for this community project that we could all do instead of staging big big Les Mills launches. Besides, after 2 very stupendous launches in June & Sept, I think we're can't really get any bigger(maybe Bukit Jalil next year?).

Back to the project, Riyo, Jeremy & I decided to raise funds for a charity home this time so I thought of this Thalassaemia Association of Malaysia(TAM), one of the more low-profile NGOs in Malaysia. Almost everyone knows about the AIDS Council or National Cancer Society but not many know of TAM or the hereditary condition Thalassaemia.



With the help of GF, I've managed to contact the TAM office and spoke to Zanel, a Thalassaemia patient who works with TAM. After explaining our intention, they were very helpful to provide us with their organization logo for our club posters. It was then that I decided that I should pay them a visit in Cheras.


The office is located somewhere near SMK Amiruddin Baki, just above a 7-11 outlet.



When I reached there, Zanel wasn't around but her mom(can't recall her name), who works as a volunteer, was being interviewed by 2 reporters from the NST group. Zanel had gone to the hospital to do his blood transfusion. Anyhow, I waited patiently for the interview to end and in the mean time I took the opportunity to look around the office.


pictures of their activities

One thing for sure, they don't spend money to make the office look beautiful. It's a simple place for them to work and maybe provide counselling to family members of Thalassaemia patients. From the pictures there, I discovered that their patron is actually the wife of the DPM Datin Seri Rosmah Mansor. She seems to be involved in a lot of their activities.

After the interview was over, it was my turn to talk to Zanel's mom. She's actually also the treasurer of TAM, and has been helping out for a very long time. Most of the committee members are actually parents of Thalassaemia patients, except the president Prof Dr Zulkifli Ismail, who's one of the pioneers of the organization.

Speaking to Zanel's mom helped me to understand better what this condition is all about. Previously, I've heard the term Thalassaemia before but I've never known what exactly it was.

There are 2 types of people with the defective gene: Thalassaemia minor & Thalassaemia major. A person with Thalassaemia minor is a carrier. He/she has inherited one normal gene and one thalassaemia gene. A carrier will have less haemogblobin in each red blood cell and their red blood cells are smaller than usual. However, a carrier may not show any symptoms and can live a healthy and normal life- at most, he/she may appear slightly anaemic. A carrier can only be detected through blood screening.

A person with Thalassaemia major is one who has the very serious inherited blood disorder. At birth, he/she will appear normal but from 3-18 months' time, he/she will slowly show signs of anaemia which eventually becomes severe, due to the inability of the body to produce enough haemoglobin. If not taken care of, a Thalassaemia patient usually dies between one and eight years of age.

Without proper treatment, the child will develope:

1. Distended abdomen due to enlargement of liver & spleen
2. Stunted growth
3. Changes in facial bone structures
4. Jaundice

Zanel's mom showed me the picture of Zanel whom I've only spoken to through the phone. I had thought that Zanel sounded very young on the phone and I was so surprised that Zanel looked like a 14-15 year old boy while he is actually in his early twenties.

Basically, there are a few treatments for thalassaemia:

1. Blood transfusion
2. Chelation therapy
3. bone marrow transplant(only if they have suitable donors)

For blood transfusion, thalassaemia patients need to do it on a monthly basis. Zanel had to go for transfusion that day because he was feeling very weak and tired(his last transfusion was 6 weeks ago). Blood transfusion must always be followed by chelating therapy to reduce the amount of iron in the blood. Complications from iron overload include heart failure, multiple organ malfucntion & endocrine disorder.

used for iron removal- to be injected into the body 5-7 times a week over 12 hours

It was only until recently that the government hospitals are giving free treatment to thalassaemia patients. Before that, the patients will have to bear the cost of everything. The older the patient, the more Desferal he/she will use and the more expensive it will become. Just for a 3-year-old patient the estimated cost is about RM1000 a month.

So how does one become a thalassaemia patient? Please take a look at the picture below:


Only if both parents are thalassemia carriers, that their offsprings will have 25% chance of getting thalassaemia major. Therefore it is important for everyone to know if he/she is a carrier of the thalassaemia gene. The danger is: 5 in every 100 people are thalassaemia carriers.

Therefore it is important to know if you are a carrier or not. It provides you an opportunity to choose a partner who is not a carrier. When you are getting married, it is vital that both of you go for genetic screening. If both of you are carriers, there is a 1 in 4 chance that your child will have thalassaemia major. However, if one parent is not a carrier, then all your offspriings will be healthy.

What can you do to help the TAM or the thalassaemia patients in general? Well, through donations of course. There's the normal monetary donation which can be written to the association- if you really want to help, I will post the address for you later in my blog.

If you're short on cash, there's another donation you can do- donate your blood to the blood bank or the government hospitals. Besides surgical operation & treatment of burn, your blood can also be used by the thalassaemia patients.

I don't know about you, but I'm going to follow the advice of TAM before I ever thought of having children: Find out if you are a carrier.