Thalassaemia and rare inherited anaemia
Thalassaemia is the name for a group of inherited conditions
that affect a substance in the blood called haemoglobin.
People with thalassaemia produce either no or too little
haemoglobin, which is used by red blood cells to carry oxygen
around the body. This can make them very anaemic (tired, short of
breath and pale). It mainly affects people of Mediterranean, south
Asian, southeast Asian and Middle Eastern origin.
Diagnosis we see/treat:
Thalassaemia(Beta Thalassaemia major, Beta Thalassaemia
intermedia, Alpha Thalassaemia, Other Thalassaemia ie: HbH,
HbE)
Rare inherited anaemias (RIA) are a subset of anaemias caused by
a myriad of genetic defects affecting erythropoiesis stages or one
red blood cell (RBC) component.
Other rare inherited anaemia (Diamond Blackfan
Anaemia, ADA 2, Congenital Dyserythropoietic Anaemias (CDA) Type 1
(Type I, II, III, IV, VI) CDA Type other, Pyruvate Kinase
Deficiency, Glucose Phosphate Isomerase Deficiency, Hexokinase
Deficiency, Unstable Haemoglobin, Methaemoglobin, Pure Red Cell
Aplasia, enzyme deficiencies, red cell membrane disorders, other
rare anaemia - cause unknown)
Diagnosis we do not see/treat:
Possible alpha thalassaemia
Thalassaemia Trait/Carrier
Further information on Thalassaemia Trait/Carrier,
possible Alpha, Alpha 0, Alpha + Thalassaemia
It's also possible to be a "carrier" of thalassaemia, also known
as having the thalassaemia trait. Being a beta thalassaemia carrier
will not generally cause any health problems, but there is a risk
of having children with thalassaemia.
Alpha thalassaemia
Carrying alpha thalassaemia does not cause any illness. Most
people who carry alpha thalassaemia do not know they have it. They
only discover it when they have a specific blood test.
However, it can cause confusion, and, in some cases, it could
affect the health of their children.
There are two types of alpha thalassaemia; alpha plus
thalassaemia, which is harmless, and alpha zero thalassaemia which
may have more serious implications. This information applies to
both types.
HARMLESS ALPHA THALASSAEMIA (ALPHA+)
If you, or one of your parents or grandparents, or any of your
ancestors originally come from: Africa (this includes African
Caribbeans, unless they have some Chinese ancestry), India,
Pakistan, or Bangladesh, your alpha thalassaemia is harmless for
you and your children.
You have a form of alpha thalassaemia called alpha plus
thalassaemia. This is the mildest form of thalassaemia. It will
never affect your health. You may pass it on to some of your
children, but it will not affect their health. About 1 in 3 people
originating from Africa or the Indian sub-continent carry alpha
plus thalassaemia. In fact, it is normal for many people whose
ancestors came from these areas to carry mild alpha thalassaemia.
So, you should not worry about it.
It is useful for you to know that you carry alpha plus
thalassaemia, because otherwise, when you have a blood test,
doctors may think that you carry a more serious form of
thalassaemia. This could worry you unnecessarily. Your alpha
thalassaemia could also be mistaken for iron deficiency. In your
case, iron deficiency can be diagnosed only by measuring your serum
iron (ferritin) level.
THE IMPORTANT FORM OF THALASSAEMIA - ALPHA
0
If you carry alpha thalassaemia and you or your parents or
grandparents, or any of your ancestors originally came from:
Southeast Asia, China (this includes people of Chinese origin from
Hong Kong, Singapore, Malaysia, Indonesia), Thailand, Vietnam,
Kampuchea/Cambodia, The Philippines, the Mediterranean area,
Cyprus, Greece, Turkey, Southern Italy, the Middle East or if you
do not know where your ancestors came from, or you are a North
European, you could carry alpha zero thalassaemia, or you could
carry alpha plus thalassaemia.
Alpha zero thalassaemia is uncommon. It does not cause any
illness. However, it could be a problem for some of the children of
people who carry it.
If both parents carry alpha zero thalassaemia, some of their
babies could have a very severe anaemia. But if they know they both
carry alpha zero thalassaemia they can avoid this risk.
If you carry alpha thalassaemia and you come from China or
another part of Southeast Asia, the Mediterranean area or the
Middle East, it may be important for you to find out which type of
alpha thalassaemia you carry.
If you do not yet have a partner, remember that your alpha
thalassaemia will not do you any harm. You need not do anything
more now. Once you have a partner, take them for a blood test
before you have children. If your partner does not have any type of
thalassaemia, there is no risk for your children, and you have
nothing to worry about. But if your partner's blood test result
shows any unusual finding which might be associated with
thalassaemia, you should see an expert in haemoglobin disorders for
advice. Your GP can refer you to the local clinical genetics team
for counselling. For Bristol, this team is based at St Michael's
Hospital.
Clinical guidelines
Management of Thalassaemia in Adults
Patient leaflets
We have various patient information leaflets. Please contact us
to find out more.
If you are looking for information on transition from paediatric
to adult services, please visit
our transition website.
