Thảo luận:Thalassaemia

message: Phần tiếng Anh đã lâu không dịch. conbo 00:44, ngày 22 tháng 8 năm 2007 (UTC)
Haemoglobin is an iron-containing protein which is vital because it carries oxygen around the body.

message: It can be found in any population of people but is most common in people from the Mediterranean, the Middle East, south-east
Asia and the Indian sub-continent.
In some of these regions the frequency of the gene is as high as one in five people. It is uncommon in people of northern European ancestry.
thread_title: Who gets thalassaemia?

message: Thalassaemia is a genetic disorder passed down from parent to child through the genes. It is one of the world’s most common inherited genetic disorders.
Its most severe form is seen only in those people who inherit the gene from both parents.
When it is inherited from only one parent the person has the thalassaemia “trait” and is also described as a carrier of the gene. This is by far the most common form of inheritance.
There are therefore two types of thalassaemia:
1. Thalassaemia minor — the carrier or trait state.
2. Thalassaemia major — the disorder.
thread_title: What is the nature of its inheritance?

message: People with this common form are healthy and most go through life unaware they have a problem. The disorder can only be  detected by a special blood test.
thread_title: Is thalassaemia minor serious?

message: Yes, it is invariably a severe lifelong condition due to the resultant anaemia (called haemolytic anaemia). The main symptoms of anaemia are tiredness, weakness, breathlessness and pallor.
A child who has the disorder tends to be lethargic and inactive and cannot keep up with the activities of other children.
thread_title: Is thalassaemia major serious?

message: People with thalassaemia major are at risk from severe anaemia and the consequences of multiple blood transfusions required for treatment.
This will cause a build-up of iron in the body which can result in damage to the pancreas, heart and liver.
However, with good treatment most children will be able to lead a reasonably normal life, although constant care and monitoring will be necessary.
thread_title: What are the risks?

message: There is no available cure but it is hoped that new information on the structure and transmission of genes may lead to effective gene therapy in the future.
thread_title: Is there a cure for thalassaemia?

message: Individuals from a high-risk background should be tested for the thalassaemia trait.
The main tests are a full blood examination and haemoglobin electrophoresis. DNA analysis may be needed to detect the carrier state.
thread_title: What should be done?

message: If a couple are both carriers (thalassaemia minor) it is important that they obtain genetic counselling for information about possible outcomes and options.
Possible Outcomes:
* If a carrier marries a non-carrier there is a one-in-two chance of a child being a carrier but no chance of thalassaemia major.
* If a carrier marries a carrier there is a three-infour chance of a child being healthy (one in four — no abnormal genes; two in four — being carriers) and a one-in-four chance of having thalassaemia major.
Options
There are various options for family planning including choosing not to have children naturally or electing to take the one in four risk of having a child with thalassaemia major.
Discuss these and other possible options with your doctor.
thread_title: How should family planning be carried out?

message: Treatment is based on regular blood transfusions for anaemia. These are started in childhood as the anaemia develops and then given every 3-4 weeks. Later on, excess iron in the body can be removed by injecting a special drug.
thread_title: What is the treatment for thalassaemia major?