T.A.S.C.S. Australia is not a medical service. The following information is provided to answer questions we are frequently asked but should not be taken as medical advice. All concerns about your health should be discussed with a health professional.
How can I find out if I am a carrier of thalassaemia or another haemoglobin condition?
Ask your GP for a blood test “for haemoglobin disorders”.
Family history is also very important so keep in mind immediate or extended family and if thalassaemia is known in your family history.
When is the best time to have a test if I am a carrier?
You can have it at any time, but the best time is before you start a family. Ask the GP to give you a test if you are planning a family, or are at the start of pregnancy.
I have been diagnosed with thalassaemia minor (carrier). What should I worry about?
People with beta thalassaemia trait will usually experience no health problems other than a mild anemia. You may have beta/alpha thalassaemia trait and not know it.
Thalassaemia minor (carrier) is generally asymptomatic and usually does not present any significant symptoms. Please note that a disease is termed asymptomatic if a patient carries a disease or infection but experiences no symptoms.
Our concern is that they be aware that they may pass down their thalassaemia gene to their children. If their partner also has thalassaemia minor, they then have a 25% (1 in 4) chance with each pregnancy of having a child with thalassaemia major.
If people know that they have this 25% chance BEFORE they start a family, they can then discuss their family planning options with health professionals, such as Genetic Counsellors. The family planning options available to them may alter their chances of having a child affected by thalassaemia.
I have thalassaemia minor. Should I be taking iron supplements?
A doctor may recommend to someone to take iron supplements when their iron levels are low. For people who have thalassaemia minor, it is very important that they take iron supplements under their doctor’s supervision, ONLY when their iron levels are very low, as iron supplements do not correct thalassaemia minor and may possibly cause complications.
The part of the blood affected in thalassaemia conditions is a molecule called haemoglobin. Haemoglobin is found in the red blood cells and plays an important role in carrying oxygen around the body from the lungs to all the organs. The organs then use that oxygen as fuel to perform their functions.
When haemoglobin hasn’t formed in normal amounts, a person often feels very tired. One cause of improper formation of haemoglobin is a lack of iron. Iron is one of 3 components of haemoglobin. When a person does not have enough iron in their body/diet, they are then unable to form normal amounts of haemoglobin. This means that there are not normal amounts of haemoglobin to carry oxygen (fuel) to their organs, and thus the function of each organ requires more effort. This causes the person to feel tired.
When lack of iron is the cause of improper haemoglobin formation, this can be corrected by taking iron supplements. However, for some people, taking iron supplements must be carefully monitored. These people include those with thalassaemia minor and thalassaemia major.
A person with thalassaemia minor lacks one of the 2 other components of haemoglobin. Haemoglobin is made of iron and two globin proteins called alpha (a) and beta (b). A person with thalassaemia minor does not produce normal amounts of the (b) globin. They do, however, produce enough (b) globin that there is enough haemoglobin formed for them to function without normally experiencing any symptoms.
Because some haemoglobin is not forming properly, in thalassaemia minor, there will be some unbound (a) globins and iron. This unbound (a) globin and iron will circulate freely in the person’s bloodstream and not usually cause any problems. What is important is that a person with thalassaemia minor already has some free iron circulating in their bloodstream, and so taking iron supplements, unless they have had a blood test showing they are truly low in iron, will only increase the amount of free iron circulating in their bloodstream. If the amount of free iron is high, a serious complication called iron overload may result.
Iron overload is the accumulation of iron in the body’s tissues. Tissue damage may result, causing complications including growth retardation, diabetes and heart failure. This is a very serious condition. For people with thalassaemia major, iron overload is prevented by taking medication under the skin (subcutaneously) over near daily 10 hour intervals. For those with thalassaemia minor, iron overload can be prevented by making sure they do not take iron supplements UNLESS they are low in iron and are under the supervision of their doctor.
If you have thalassaemia minor and are considering taking vitamin supplements, the B vitamins may be helpful. Again, we would advise that you discuss this with your doctor.
Could you please explain the differences with each form of thalassaemia
There are two main types of thalassaemia based on which part of the haemoglobin is affected, and two types of thalassaemia based on severity of symptoms.
“Thalassaemia major” is the severe form of thalassaemia and is associated with symptoms and requires treatment, such as regular blood transfusions and iron chelation therapy. People with “Thalassaemia minor” who are also known as “carriers” of thalassaemia, can expect to be healthy and symptomatic.
To explain it better, “Thalassaemia major” is a condition where a person’s haemoglobin (the oxygen carrying molecule on red blood cells) is unable to form properly. The defect may lie with either of two components of the haemoglobin, the Alpha-globin and the Beta-globin.
When the beta-globin is defective, the condition is known as Beta-Thalassaemia (major) whilst Alpha-Thalassaemia (major) occurs when the alpha-globin is defective.
Alpha-thalassaemia and beta-thalassaemia (major) present with virtually the same symptoms and patients with either thalassaemia undertake the same treatment.
Why are the genes for haemoglobin conditions more often found in certain areas of the world? For example, why are genes for beta (b) thalassaemia more frequently found in populations from the Mediterranean, from the Middle East or from South East Asia?
The genes involved in haemoglobin conditions are often found in regions of the world where malaria has been common (in the past or the present). This is because people who are carriers (people who carry some normal haemoglobin genes but also some genes involved in haemoglobin conditions, but are themselves healthy) have a slight change in shape to their red blood cells. This change in shape does not affect the function of the red blood cell so they do not have any symptoms. However the change in shape does result in the individual being less susceptible to malaria.
In areas where malaria is common, carriers of haemoglobin conditions have a survival advantage. They are less likely than their counterparts to contract malaria and thus more likely to survive and to reproduce. When they have children, they have a 1 in 2 (50%) chance with each child of passing on the gene for the haemoglobin condition. Their children may then pass down the gene to their children; their grandchildren may pass down the gene …etc. Thus the gene increases in frequency in the population over time. This is termed ‘selective advantage’ or ‘heterozygote advantage’.
How can your community support patients with thalassaemia and other haemoglobinopathies?
Be informed and make informed choices for yourself and your family.
Learn about the condition and encourage people to be tested before having a family.
Offer help to the family/individual if and when a patient is in hospital.
Talk openly about the conditions to reduce stigma, misunderstanding and embarrassment.
Support T.A.S.C.S. Australia’s blood donors campaign and give blood or encourage those you know to give blood….as T.A.S.C.S. Australia aims to make every drop count!
What is Haemoglobin H disease, and what medications or products should one avoid?
In simple terms, Haemoglobin H disease (HbH) is a form of alpha thalassaemia in which moderately severe anaemia develops due to reduced formation of alpha globin chains. In this condition, as in the other forms of thalassaemia, there is an imbalance of globin chains needed to form haemoglobin.
The medical literature suggests that the following medications and products cited further on, may cause problems for people with Haemoglobin H disease. However, no studies have been conducted to prove that these substances are actually harmful for people with Haemoglobin H disease.
In an effort to avoid haemolytic episodes that cause the destruction of red blood cells and lower the haemoglobin level suddenly, it is suggested that the following be avoided. Any type of chemical fumes can be added to this list as to be avoided.
Fava beans, known as favism (some people report problems with other beans and legumes, such as peanuts). If prone to sudden drops in haemoglobin, try keeping a food diary to see if certain foods may be causing haemolysis, the destruction of red blood cells. In general, similar chemical fumes can pose a haemolysis risk in some people. There is some anecdotal evidence about chemical fragrances from daily life setting off haemolysis. Fabric softener dryer sheets were mentioned, but again, if haemaglobin suddenly drops, review if there has been any food, drug or chemical exposure that may have set it off.
TASCS Australia has been informed that cigarette smoke can also be a factor that can suddenly reduce the haemaglobin level in alpha thalassemics. As always, observation of exposures once you have a haemolytic crisis will tell you what you need to avoid. The following list is a sample of items that people affected by Haemaglobin H disease, as well as others affected by thalassaemias and sickle cell anaemia should avoid:
- Sulfa Drugs
- Sulfacetamide (eye drops)
- Salfasalazine (Salicylazosulfapyridine)
- Aspirin (acetaminophen is safe as alternative)
- Hydroxychloroquine sulfate
- Tuberculosis Drugs
- Folic Acid Antagonists
- Other Antibacterials
- Nalidixic acid (Negram)
- Beta-amniosalicylic acid
Other Items to take note of and be wary of include:
- Iron supplements (- Unless laboratory-proven iron deficiency.)
- Vitamin K analogues
- Quinidine gluconate
- Phenazopyridine (pyridium)
- Toluidine Blue (a dye)
- Methylene Blue (a dye)
- Naphthalene (mothballs)
If I have Sickle Cell Anaemia and I am low in vitamin C, can I take vitamin C supplements to correct this problem, or will it cause other medical issues?
Sickle Cell and other Thalassaemias can have serious side effects from taking vitamin C. Always check with your haematologist before taking supplements, certain foods, and medications. People with sickle cell anaemia, as well as people with a metabolic disorder called G6PD, can potentially have serious side-effects from taking high levels of vitamin C. Thalassaemia and Hemochromatosis patients could be negatively affected by increased iron absorption, which may occur from vitamin C supplementation causing serious issues with iron overload and can lead to kidney failure and gastrointestinal diseases.
It is also worth noting, that those with diabetes (which is quite common amongst thalassaemics):
Vitamin C may raise blood sugar levels in people with diabetes. In older women with diabetes, doses of vitamin C above 300 mg per day were associated with an increased risk of death from heart disease.