Thalassaemia (or thalassemia) is a genetic disorder of the blood which originated in the Mediterranean region. … Haemoglobin is the protein in red blood cells which carries oxygen. People with thalassaemia make less haemoglobin and fewer circulating red blood cells than normal, which results in mild or severe anemia.
Both types of thalassemia are inherited in the same manner. The disease is passed to children by parents who carry the mutated thalassemia gene. A child who inherits one mutated gene is a carrier, which is sometimes called “thalassemia trait.” Most carriers lead completely normal, healthy lives.
If you’re missing two genes, you have alpha thalassemia trait (also called alpha thalassemia minor). You may have mild anemia. If you’re missing three genes, you likely have hemoglobin H disease (which a blood test can detect). This form of thalassemia causes moderate to severe anemia
How thalassemia is caused?
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in your red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children
The two main types of thalassemia are alpha and beta.
Alpha thalassemia. In alpha thalassemia, the hemoglobin does not produce enough alpha protein. …
- Beta Thalassemia
- Iron overload
- Enlarged spleen
- Bone deformities
- Living with thalassemia
Some of the more common symptoms of beta thalassemia include:
- Fatigue, Weakness, Or Shortness Of Breath.
- A Pale Appearance Or A Yellow Color To The Skin (Jaundice)
- Deformities Of The Facial Bones.
- Slow Growth.
- A Swollen Abdomen.
- Dark Urin
PATIENT EDUCATION IN PREVENTING
Educate patients with thalassemia minor about the genetic (hereditary) nature of their disease, and inform them that their immediate family members (ie, parents, siblings, children) may be affected. The presence of beta-thalassemia minor in both parents implies that there is about a one fourth chance that a child will have thalassemia major. Careful genetic counseling is also appropriate for patients in whom one parent has beta-thalassemia minor and the other su
Fruits/Vegetables that should be avoided or eliminated from the diet:
- Prune Juice.
- Leafy Green Vegetables.
supportive measures include folic acid replacement and monitoring for the development of complications such as pulmonary hypertension, osteoporosis, and bone fractures, poor dentition, heart failure, and aplastic crisis with parvovirus B-19 infection. aren’t has some form of beta-globin–related disease, such as sickle cell carriage
Thalassaemia is no longer a childhood disease, in fact with our current level of knowledge, of treatment, of support and care there is no reason for a thalassaemic not to reach their full potential.
Thalassaemics can lead a normal life, can marry, can have children and can enjoy having grey hairs and wrinkles and “But I’ve got that” should no longer be used as an excuse.
In fact we have now come to a point were the only limits are the ones that thalassaemics place on ourselves. Remember that the thalassaemic child of today will be the; engineer, criminal, lawyer, judge or the doctor of tomorrow.
Healthy Choices for People Living with Thalassemia
Other healthy choices a person with thalassemia should consider include keeping vaccinations up-to-date, eating nutritious meals, exercising, and developing positive relationships.
Vaccines are a great way to prevent many serious infections. Children and adults with thalassemia should get all recommended vaccinations, including a flu vaccination. People with thalassemia are considered “high risk” for certain infections, especially if they have had their spleen removed, and should follow a special vaccination schedule for the following vaccines:
Haemophilus influenzae type b (Hib)
See the most up-to-date vaccination schedules. Pay special attention to the footnotes that provide special instructions for people with thalassemia.
Eating nutritious foods is important for everyone to maintain a healthy lifestyle – a diet, high in fruits and vegetables and low in fats is ideal for gaining the essential nutrients our bodies need. For people living with thalassemia, because too much iron may build up in the blood, foods high in iron may need to be limited. Iron can be found in meat, fish, and some vegetables (e.g., spinach). Other products, like cereal and orange juice, may contain extra iron. Persons with thalassemia should discuss with their doctor whether or not they should limit the amount of iron in their diet.
Exercise is part of an overall healthy lifestyle and helps lead to better health outcomes. Although some people with thalassemia may have trouble participating in vigorous forms of exercise, many people with thalassemia can participate in moderate physical activities including biking, running, and walking. If a person with thalassemia has problems with their joints, there are many kinds of low-impact activities to choose from including yoga, swimming, or water aerobics. If you have thalassemia, you should discuss with your doctor the level of exercise that would be best for you.
Having warm, supportive relationships is an important part of life. Friends, including co-workers, classmates, and family members can offer support in managing thalassemia (e.g., offering a ride to the transfusion center, gentle reminders about your chelation schedule, etc.) and coping with stress of daily life.
Romantic relationships can also offer a source of support. If a romantic relationship becomes sexual, it is important for everyone to make healthy decisions, such as getting tested for sexually transmitted diseases and negotiating condom use. In addition, if you have thalassemia, thalassemia trait, or know someone in your family with thalassemia, genetic counseling is recommended prior to any pregnancy so that you and your partner can be informed of your risk of having a child with thalassemia.
Dr. S. Manohar
Director – Internal Medicine,
Sakra World Hospital, Bengaluru-560103