What is Thalassemia?
Thalassemia is an inherited blood disorder that causes your body to have less hemoglobin than normal. People born with this disorder cannot make normal hemoglobin (anemia) which is needed to produce healthy red blood cells.
FAQs
Plain-language answers about thalassemia — what causes it, the difference between minor, intermedia and major, who carries it, and how it is treated.
All FAQs · 29 answers in this group
Thalassemia is an inherited blood disorder that causes your body to have less hemoglobin than normal. People born with this disorder cannot make normal hemoglobin (anemia) which is needed to produce healthy red blood cells.
Thalassemia can be treated using, Blood transfusions, iron chelation therapy, and folic acid supplements and bone marrow transplants
There are three stages of Thalassemia:
If one of the parents is a carrier of the Thalassemia gene, the child is at a greater risk of suffering from the condition
People of Chinese, South Asian, Middle Eastern, Mediterranean or African origin.
People with a thalassemia mutation only in one gene are known as carriers or are said to have thalassemia minor. Thalassemia minor results in no anemia or very slight anemia. People who are carriers do not require blood transfusion or iron therapy, unless proven to be iron deficient.
Children born with thalassemia major usually develop the symptons of severe anemia within the first year of life. Lacking the ability to produce normal adult hemoglobin, children with thalassemia major:
Thalassemics are chronically fatigued, fail to thrive, and do not grow normally
Prolonged anemia will cause bone deformities and eventually will lead to death within the first decade of life. The only treatment to combat severe anemia is regular blood transfusions.
If both parents carry thalassemia minor, their children may have thalassemia minor, or they may have completely normal blood, or they may have thalassemia major. In each pregnancy there is a one in four (25%) chance that their child will have normal blood, a two in four (50%) chance that the child will have thalassemia minor or a one in four (25%) chance that the child will have thalassemia major.
Many people from the areas of the world where thalassemia is common carry the gene for it on one chromosome (that is, they have thalassemia minor). You may believe that your blood has been tested for this specific gene but testing for thalassemia requires a special blood test. To be tested your doctor must order a blood test called HEMOGLOBIN ELECTROPHORESIS which can identify a carrier of thalassemia.
If you, your parents or ancestors are from an area of the world where thalassemia is common, PLEASE REQUEST hemoglobin electrophoresis blood test from your doctor.
It is important to identify yourself as a possible carrier of thalassemia (thalassemia minor). A person with thalassemia minor has a 25%(1 in 4) chance of having a baby with thalassemia major if his/her mate also has thalassemia minor.
Talk and accept that anyone can be effected with Thalassemia. Talk about it to your family, friends, neighbours, coworkers or anyone who has origins from areas where thalassemia is common. Be sure to ask your doctor to test you for thalassemia minor. Increased awareness is the key, please do your part by spreading the word.
A hematologist and General Physician are usually the primary treating doctors. However, given the co-morbidities, a robust health eco-system will include a cardiologist, endocrinologist and gastroenterologist.
The best time to have a thalassemia test is before you start a family or are at the start of pregnancy.
Yes it can be cured. Bone Marrow Transplant (BMT) is the best solution for this condition.
Patients with hemoglobin concentrations below 6 g/dL, require blood transfusion therapy.
BMT can give an 80-90% cure probability, with 5% mortality rate and a 10% chance of refusal (leaving them thalassemic).
The recommended treatment for thalassaemia major involves lifelong regular blood transfusions, usually administered every two to five weeks, to maintain the pretransfusion haemoglobin level above 9–10.5 g/dl
Thalassemia is quite common, with around 10,000 children born with the condition every year.
Thalassemia is caused by mutations in the genes that control the production of hemoglobin.
Yes, Thalassemia is inherited. It is passed down from parents to their children.
Bone Marrow Transplant and Gene Therapy can help cure Thalassemia. But the success of it depends on the health condition and age of patient.
The symptoms of Thalassemia can include fatigue, weakness, pale skin, jaundice, and an enlarged spleen.
Thalassemia is diagnosed through blood tests that measure the levels of hemoglobin and other blood components.
Thalassemia major is a more severe form of the disorder that requires regular blood transfusions. Thalassemia minor is a milder form that usually doesn't require treatment.
Treatment for Thalassemia may include blood transfusions, medication, and bone marrow transplantation.
The cost of treatment for Thalassemia can vary depending on the severity of the condition and the type of treatment required., the cost of regular blood transfusions can range from Rs. 1,000 to Rs. 3,000 per transfusion which includes cost for filters and transportation. Blood is provided freely for Thalassemia patients in India.
The life expectancy of a person with Thalassemia can vary depending on the severity of the condition and the effectiveness of the treatment. With proper treatment, many people with Thalassemia can live normal or near-normal lives.
The prevalence of Thalassemia can vary widely across different regions of India. In some areas, such as Gujarat and Maharashtra, the prevalence is relatively high, while in others, such as the northeastern states, it is relatively low.
Thalassemia is most commonly caused by mutations in the HBB gene, which codes for the beta-globin subunit of hemoglobin.
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