Q: I have a great niece living in New Delhi, India who is four years old. Six months following her birth her parents discovered that she had thalassemia. She’s been getting blood transfusions every 28 days. Her parents thought that having another child might help but unfortunately the HLA of the second child did not match. The question now is, what is her future, how can she be helped and is there any cure?
I am a US citizen, living in the USA since 1963. I am trying to explore all possibilities to help this child. You have been very helpful to millions of people and they open up to you and benefit from your kindness. I am hoping to get good advice from you, too. Thank you for your help.
A: Thalassemia is an inherited blood disorder in which the body produces an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The condition results in excessive destruction of red blood cells that, in turn, leads to anemia. There are several types, to include Cooley’s and Mediterranean anemia, alpha and beta thalassemia.
Hemoglobin is comprised of two proteins – alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that controls the production of either the alpha or the beta protein. Alpha occurs when a gene or genes are missing or changed. Beta occurs when similar gene defects affect the production of the beta protein. The alpha form is most common in individuals from Africa, China, the Middle East and southeast Asia. The beta form is most common primarily in individuals of Mediterranean origin and to a lesser extent, those from Asia, China and to African-Americans.
There are two forms of the condition referred to as thalassemia major and thalassemia minor. In order to be diagnosed with the major form, an individual must inherit the defective gene from both parents; whereas the minor form occurs if a defective gene is inherited from only one parent. Individuals with the latter form are carriers and do not generally have symptoms.
Some individuals are known to have mild cases that do not require treatment at all; however, more intense forms will. The most severe form of the major type commonly causes death of the fetus in the late stages of pregnancy or during birth. Those that survive are normal at birth but develop severe anemia during the first year and may have problems with growth, shortness-of-breath and be jaundiced (yellowing of the skin and eyes).
Treatment for thalassemia major commonly includes regular blood transfusions and folate supplements. If transfusions are administered, individuals should not take iron supplements because of the possibility of iron buildup that can be harmful. And, if a large number of transfusions are administered, chelation therapy may be necessary to remove the iron overload that results. A bone marrow transplant has been found to treat the disorder successfully, particularly in children. Life expectancy of those with thalaseemia major is up to 30 years at this stage, whereas other forms of the disorder generally do not shorten an individual’s lifespan. Remember that untreated thalassemia major can make an individual more likely to develop infection, a situation that should definitely be avoided.
Treatment has improved over the years. Moderate and even severe cases are being treated more effectively, patients are living longer and their quality of life is definitely better than it has been in the past. Patients so diagnosed should eat well, exercise as much as possible, and contact their physicians regularly, strictly adhering to his or her advice.
