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Thalassaemia and pregnancy


Discussions on "Thalassaemia and pregnancy" in "Preggers Health & Nutrition" forum.


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    Thalassaemia and pregnancy

    What is thalassaemia?

    Thalassaemia is the most common inherited gene disorder in the world. It causes the body to make fewer healthy red blood cells and less haemoglobin. Haemoglobin is an iron-rich protein in red blood cells, which carries oxygen to all parts of the body and carbon dioxide to the lungs to be exhaled.

    There are many types of thalassaemia, all of which have different symptoms and vary in their severity. The two main types are:
    • Alpha thalassaemia: Most often affects people of south-east Asian, Filipino, Indian, or Chinese descent.
    • Beta thalassaemia: More common among people from Mediterranean countries, the Middle East, Asia, or Africa.
    Within these types there are sub-types. The most common are:
    • Alpha/beta thalassaemia minor: This is caused by inheriting the thalassaemia genetic disorder from only one parent. People with thalassaemia minor are carriers of the disease, but do not usually have health problems. Beta thalassaemia minor is the most common thalassaemia.
    • Alpha/beta thalassaemia major: These are more serious blood disorders that affect some babies who inherit the defective gene from both parents.


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    Re: Thalassaemia and pregnancy

    Symptoms and Treatment:
    What are the symptoms?

    Babies born with alpha or beta thalassaemia minor grow up to be healthy and usually do not have any symptoms.

    Babies born with alpha thalassaemia major, sometimes called hydrops fetalis, have the most severe form of the disease. Sadly, these babies usually die before or shortly after birth. Babies with beta thalassaemia major (Cooley's anaemia) appear healthy at birth, but develop symptoms of anaemia as they begin to grow, becoming pale, tired and sleepless. In the long term, the lack of haemoglobin in their blood can affect their spleen, liver function, bone development and growth.

    How is it treated?

    If your baby is born with beta thalassaemia major, regular blood transfusions will help him grow normally and to do all the things other children can do. He will also take folic acid supplements to help build healthy red blood cells.

    Over time, iron from the blood transfusions will build up in his body. This can cause complications that may affect his liver, heart, bones and development. He will need to take medication and will eventually need treatment called chelation therapy to reduce the amount of iron in his blood.

    Thalassaemia treatments are improving all the time and people with beta thalassaemia major are living longer and are increasingly having a better quality of life. Early treatment seems to be the key for improving symptoms, side effects, and life expectancy.

    Is there a cure?

    Thalassaemia can sometimes be cured by a bone marrow transplant from a matching donor, usually a brother or sister. Bone marrow transplantation is a painful, risky procedure and many children with thalassaemia do not have a suitable donor. Another procedure to cure thalassaemia involves using blood from the placenta or umbilical cord taken at the birth of a sibling.

    Last edited by nlakshmi; 1st Feb 2012 at 11:00 PM. Reason: adding content

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    Re: Thalassaemia and pregnancy

    How do babies get thalassaemia?

    Thalassaemia is hereditary, which means that it is passed down through families. Thalassaemia minor in one or both parents does not automatically lead to the baby inheriting the disease, in much the same way as the eye or hair colour of a parent are not always shared by their child.

    A baby who has one parent with thalassaemia minor has a 50 per cent chance of inheriting the gene defect and being a carrier like their parent. Babies who inherit the gene disorder from both parents have a double dose of the gene and can sometimes have thalassaemia major.

    Three out of every four children whose parents both carry beta thalassaemia are born healthy. They have a 50 per cent chance of being a symptom-free carrier, a 25 per cent risk of having the more severe thalassaemia major and a 25 per cent chance that they will be neither carriers nor have the disease.



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    Re: Thalassaemia and pregnancy

    How do I find out if I am a thalassaemia carrier?

    It is quite common for people with thalassaemia minor not to know they have it, because there are usually no symptoms. If you are worried that you or your husband might be a carrier, a routine blood test will establish if you have thalassaemia minor. If you or your husband has thalassaemia and you are planning a family or are already expecting a baby, your husband will need to have a blood test so that the risk can be assessed. Positive test results are valuable information to share with the rest of your family, who should be tested if they are planning families.

    What should I do if I am pregnant and I have thalassaemia?

    If you have thalassaemia minor during pregnancy, you might be more prone to iron deficiency (anaemia). If you become anaemic, you will need to take iron supplements. However, beta thalassaemia can affect blood test results during pregnancy, causing them to indicate that your iron stores are low when they are not. As a result, if you have beta thalassaemia minor, you should have additional blood tests to confirm that you are iron-deficient before you take iron tablets. If you have thalassaemia, you will also benefit from taking folic acid supplements.


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    Re: Thalassaemia and pregnancy

    How do I find out if my unborn baby has thalassaemia?

    If you and your husband have been diagnosed with thalassaemia minor, there are three ways to find out if your baby has inherited it.
    • Chorionic villus sampling (CVS): This involves taking a small sample of the placenta for DNA testing at about 10 to 12 weeks of pregnancy.
    • Amniocentesis: The amniotic fluid surrounding your baby is tested at between 15 and 18 weeks of pregnancy.
    • Percutaneous umbilical blood sampling (PUBS): A blood sample is taken from the umbilical cord at about 18 to 21 weeks of pregnancy. This test is the least common and usually only used if the pregnancy is more advanced or when the results of the other tests are inconclusive.
    If you are concerned that your baby may have thalassaemia, try to get a diagnosis as early as possible in your pregnancy. The information will enable you to make an informed choice for you and your family. Some parents choose to terminate an affected fetus. This is a traumatic decision, so the earlier in the pregnancy a diagnosis can be made, the better it is for the family.

    Where can I get help and support?

    If you or your baby are tested for thalassaemia your doctor may offer genetic counselling. Talk to your doctor for information about the implications of thalassaemia, so you can make informed medical and personal decisions.

    It is relatively common to carry thalassaemia, so there are a number of support groups available for people with the disease. For more information visit The Thalassaemia International Federation, Thalassaemics India or Cooley's Anemia Foundation.

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    Re: Thalassaemia and pregnancy

    one of my relatives son got thalasemia. they are going to do bone marrow transplantation in a year. they both (husband and wife) are relatives. so their defective genes have been transfered to their son.

    nlakshmi likes this.
    Uma


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