From the time the diagnosis is confirmed and after presenting a decrease in the hemoglobin amounts for below 7g/dl in 2 occasions greater than 15 days upon consent of other factors that could cause anemia
Patient who keeps hemoglobin around 7g/dl but evolving with facial bone deformities, repetition fractures and progressive growth of the spleen.
2) How much should be transfused in a person with major Thalassemia?
The goal of the transfusion regime is trying to keep the patient with hemoglobin always above 9g/dl or more. For such, one should consider the intervals between the transfusions and factors that may influence in a greater consumption of red blood cells such as splenomegaly or the presence of anti-erythrocyte antibodies. Another factor to be considered in the volume to be ordered is the content of hemoglobin of the red blood cell concentrate produced by the blood count service.
Considering a patient without splenomegaly and without aloantibodies, the decrease of hemoglobin is 1gram a week. If, for example, he/she arrives with 9 g/dl of hemoglobin and should come back here 4 weeks in the future we can calculate a volume enough to reach 13 g/dl. If in the return he/she arrives with hemoglobin below 9 g/dl try to identify the factors which led to such decrease and increase the volume to be transfused or reduce the interval between the transfusions.
Several formulas and charts are available to calculate the volume to be transfused based on the weight, hemoglobin of the red blood cell concentrate and on the planned increment.
When to begin a chelating therapy?
It is accepted to be needed to begin the iron chelation after the patient has received over 10 transfusions of red blood cell concentrates or has ferritin above 1000 ղg/ml.
4) What chelating agent should be initially used?
For this question there is no consensual answer. Currently, there is a preference for usage of Deferasirox for its easiness to administer, security profile and efficacy. Some prefer to use Desferioxamine because it has a security profile well known in the long term. We could say that the disadvantage of Deferasirox would be the unknown adverse effects in the long term since it is a drug in usage for less than 10 years. The disadvantage of the Desferioxamine would be the changes to the bone metabolism of the children sometimes requiring dose reduction. Not to mention the difficulties to adhesion by the parents.
The Deferiprone is deemed a second-line medication and should be indicated only when the previous medications cannot be used.
5) When to indicate bone marrow transplant?
The indication of TMO should necessarily involve the Hematologist, the transplanting team and the parents. The cure rates with TMO are above 90% but the mortality rates associated with it are around 5%. There are factors that change such rate such as the patient's general condition (if he/she has cardiopathy or associated hepatopathy for example), the type of donor, if he/she is a relative or no and the degree of compatibility, the type of conditioning regime and the source of progenitor cell (bone marrow, peripheral blood or umbilical cord blood).
With such variables placed on the table, the parents shall choose to accept the risk of the procedure but being possible to achieve the cure, not needing further transfusions and iron chelation or, keep the transfusion therapy and iron chelation, which studies have shown to allow for the thalassemic people a survival rate equal to the general population, but with limited life quality by the transfusion therapy.
6) What to say to the minor thalassemic couple who wish to have children?
This is a very sensitive subject because it involves personal desires, stability of the relationship, religious aspects and economic capacity. The wish of a couple to have children is in a way an accomplishment and the failure to succeed may bring irreparable traumas. Because of that, the person guiding them must be delicate and have a good perception of the couple's wishes.
From the purely technical point of view we affirm that the alternatives are:
1- Pre-natal diagnosis with the option of abortion until the third month of pregnancy for the cases of fetus that will possibly develop major Thalassemia: this practice is the most adopted in the countries where Thalassemia is highly prevalent such as Italy, Cyprus and Greece. It has religious and legal restrictions. In Brazil, for example, abortion for these cases is deemed an illegal practice;
2- Pre-implantation diagnosis: the fertilization is in-vitro, the embryo is analyzed and if it is not affected it shall be implanted in the mother's uterus to continue pregnancy.
It is a technique with a high cost, the failures are common as to pregnancy not evolving, and for some religions discarding embryos is also deemed an abortion.
For those who don't agree to the practices above, guidance must be given that a pregnancy may be taken forward taking the risk to have a child with major Thalassemia. This risk is 25% (or one to four). Explain what are the consequences that shall come with the birth of a child with major Thalassemia but being positive because an appropriate transfusion therapy and an appropriate chelating regime provides normal survival, currently with life quality.
7) What is Web Thal?
The program Web Thal simplifies the Exchange of clinical information through the internet and makes it possible for cooperative researches, because it integrates physicians and health professionals, that may access the system from any place. The system is already adopted by the Child Hospital Boldrini since 2003, with excellent results.
With Web Thal, it is possible to:
- Standardize the service to patients bearing hemoglobinopathies in all national centers;
- Have the register of all people with thalassemia in the country;
- Have the required indices to better systematically monitor the transfusion needs and chelating therapy;
- Encourage the participation of cooperative studies;
- Favor development of researches;
- Map the needs of people with thalassemia by region and suggest improvements in the health policies.
