What is Thalassaemia?
Thalassaemia may have originated over 50,000 years ago. In a valley south of Italy and Greece now covered by the Mediterranean Sea. The name Thalassaemia is derived from a Greek word meaning sea (*no wonder i like diving so much! Hahaha*).
Thalassaemia is an inherited disorder in which there is an abnormality in one or more of the globin genes.
Thalassaemia major is a life threatening, genetically inherited, progressive anaemia common in the Mediterranean, Asian, South East Asian and Middle Eastern countries. The condition is caused by defective production of the beta chain of haemoglobin with resultant abnormal haemoglobin function.
Children with ß Thalassaemia major are healthy at birth but become pale within the first few months of life, they fail to thrive, are prone to infections and often have an enlarged spleen and liver.
ß Thalassaemia is treatable with two to three weekly red cell transfusions throughout life and the removal of excess iron which is the result of these frequent blood transfusions. The drug currently used for this iron removal is Desferal which is administered by injections. Desferal may cause local skin irritations at the injection site. It may also interfere with spinal growth and can cause hearing problems and interfere with eye sight. Those who are sensitive to this drug or are unable to comply to the injections can now be treated with Ferriprox tablets. Ferriprox is less effective in removing iron from the body than Desferal and may cause a low blood count which may result in severe infections.
Those patients who can consistently comply to the prescribed medications can live normal lives, those whose compliance is erratic will experience many endocrinological complications caused by iron overload (growth disturbance, failure of pubertal development, thyroid and parathyroid dysfunction and diabetes) and eventually early death from heart problems.
Treatment is by bone marrow transplantation from a Human Leukocyte Antigen (HLA) identical donor, a brother, sister or rarely from a mother or father.
People with Thalassaemia Minor, sometimes known as Trait, carry Thalassaemia but they are not ill. They are completely healthy and normal but some of them have slight anaemia. Most people with Thalassaemia Minor do not even know that they have it. It is only discovered if the person has a special blood test or if they have a child with Thalassaemia Major. It is important to know if you have Thalassaemia Minor later in life. The reason for this is that it may cause some problems if the person and their partner wants to start a family. Thalassaemia minors red blood cell are also different from normal blood cells.
People with beta thalassaemia minor have red blood cells which are smaller, paler, and have less red pigment, but this does not cause any health problems. (No wonder i always look so pale, always blackout, easily get blueblack and i can't donate blood!! Tried twice but get rejected. ;p )
Generally, their red blood cells are still able to carry oxygen around the body as efficiently as someone with the two usual Beta genes. Because these individuals are themselves healthy, they will not know that they have this unusual trait unless they have a special blood test.
Actually i'm afraid of my future children. I don't want them to suffer from Thalassaemia Major! It's just too suffering!!! I can't take it.
Well, after getting the medical report from doc yesterday and after the explanation by the doc, I'm not 100% sure what it was until later at night when i have time to surf the net to find out more, i started to feel a bit uneasy and started crying when i thought about my future kids. Didn't rest properly at night though, only sleep for 3+ hours and dreamt that dl open a Thalassaemia Hospital to help kids who need blood transfusions! Hahhahaa... what a dream.
Only this morning, i have the gut to start to tell my close friends, sms-ing all my 'jie mui' (sister in Christ) and tell them about this news. Before that, i was asking myself, how to tell people that i'm a Thalassaemia carrier?...
Well, is not a big deal afterall if my kids won't get major. *Cross my finger*
"Lord, thank you for your protection all the while and thank you for the life you have given me. I pray that my dl is not a carrier himself and if it's your will for us to have children, they will be a bunch of healthy kids, Amen!"