Beta thalassemia is relatively rare in the United States, but is one of the most common autosomal recessive disorders in the world. The incidence of symptomatic cases is estimated to be approximately 1 in 100,000 individuals in the general population.
“Most thalassaemia patients would live up to the age of 25 to 30 years. Improved facilities will help them live up to the age of 60,” said Dr Mamata Manglani, head of pediatrics, Sion hospital.
Bone marrow and stem cell transplant from a compatible related donor is the only treatment that can cure thalassemia. It is the most effective treatment.
It was generally assumed that the β-thalassemia heterozygotes do not bear significant medical risks except a mild microcytic anemia. Nonetheless, increasing number of reports associate β-thalassemia trait with autoimmune conditions, nephritis, diabetes, arthritis, fibromyalgia and asthma.
Share on Pinterest Thalassemia is an inherited blood disorder. Most children with moderate to severe thalassemia receive a diagnosis by the time they are 2 years old. People with no symptoms may not realize that they are carriers until they have a child with thalassemia.
Nutritional deficiencies are common in thalassemia. It is recommended that patients going through blood transfusion should opt for a low iron diet. Avoiding iron-fortified foods like cereal, red meat, green leafy vegetables & Vitamin C-rich foods is the best option for thalassemic patients.
There are many different forms of thalassemia and the degree of severity ranges from no symptoms at all to fatal disease. If you have thalassemia minor (trait), you are a carrier of the disease and your red blood cells are smaller than normal, but you are healthy. Thalassemia major can be fatal.
Although the main health problems associated with thalassaemia can often be managed with treatment, it's still a serious health condition that can have a significant impact on a person's life. Even in mild cases, there's still a risk you could pass on a more serious type to your children.
Alpha thalassemia major with hemoglobin Bart's usually results in fatal hydrops fetalis. Beta thalassemia major causes hemolytic anemia, poor growth, and skeletal abnormalities during infancy. Affected children will require regular lifelong blood transfusions.
The RPWD Act 2016 has recognised persons with blood disorders (Thalassemia, Hemophilia and Sickle Cell Disease) as 'persons with disabilities' under the Act. Those with 40% and above disability will be given a Disability Certificate.
Pregnancy in thalassemia should be considered a high risk for both mother and fetus, and favorable outcomes are the result of continuous preconception, antenatal, and postpartum assessment and management by a team of thalassemia experts.
If one is a Thalassaemia Minor one must get the spouse/future spouse also tested. If both partners in a marriage are Thalassaemia Minor, there is a 25% chance in every pregnancy that their child will be a Thalassaemia Major.
Doctors diagnose thalassemias using blood tests, including a complete blood count (CBC) and special hemoglobin tests. A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood.
When thalassemia is called “alpha†or “beta,†this refers to the part of hemoglobin that isn't being made. If either the alpha or beta part is not made, there aren't enough building blocks to make normal amounts of hemoglobin. Low alpha is called alpha thalassemia. Low beta is called beta thalassemia.
Pregnant women with beta thalassemia can develop anemia, which can raise the chances of delivering early. You also may need more frequent blood transfusions during pregnancy for your health and the health of your baby.
To be born with the main type of thalassaemia, beta thalassaemia, a child has to inherit a copy of the faulty beta thalassaemia gene from both of their parents. This usually happens when both parents are "carriers" of the faulty gene, also known as having the "thalassaemia trait".
Beta-thalassemias are heterogeneous at the molecular level. More than 200 disease-causing mutations have been so far identified. The majority of mutations are single nucleotide substitutions, deletions, or insertions of oligonucleotides leading to frameshift. Rarely, beta-thalassemia results from gross gene deletion.
Background & Objective: Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease.
Factors that increase your risk of thalassemia include:
- Family history of thalassemia. Thalassemia is passed from parents to children through mutated hemoglobin genes.
- Certain ancestry. Thalassemia occurs most often in African Americans and in people of Mediterranean and Southeast Asian descent.
There are 2 main types of thalassemia: alpha and beta. Different genes are affected for each type. Thalassemia can cause mild or severe anemia. Anemia occurs when your body does not have enough red blood cells or hemoglobin. The severity and type of anemia depends on how many genes are affected.
You are at risk for thalassemia if you have a family history of it. Thalassemia can affect both men and women. Certain ethnic groups are at greater risk: Alpha thalassemia most often affects people who are of Southeast Asian, Indian, Chinese, or Filipino descent.
Puberty may be delayed or progress abnormally in teenagers with thalassemia, due to iron build up impairing the function of the pituitary gland. This may lead to complications such as: Absence of menstruation, known as amenorrhea.
Beta thalassemia is a fairly common blood disorder worldwide. Thousands of infants with beta thalassemia are born each year. Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia.
