Answers to important questions about Thalassaemia Part 2

Question 11: Can a child with thalassemia major lead a normal life?

Answer: With proper transfusion therapy and effective iron chelation regime, patients with thalassemia major can lead a normal or near normal life. However despite the best possible management their life span is still short. In countries where there are highly organized thalassemia centers, the average life span is 30-35 years.

Question 12: Are there other types of traits that can combine with thalassemia trait to cause the disease?
Answer: Sickle cell trait is sometimes inherited with beta-thalassemia trait when one parent has thalassemia (minor) and the other has sickle cell trait or sickle cell disease. Hb-C-thalassemia and Hb-D-thalassemia are the other examples of inheritance of two separate traits.

Question 13: Umbilical cord cell transplantation is introduced in America which minimizes the chances of death of thalassemia patients; Is this available in Pakistan?
Answer: Umbilical cord blood is rich source of hematopoietic stem cells and is being used for stem cell transplantation. It is safe procedure but the benefits to the recipient are comparable to those with bone marrow or peripheral blood stem cell transplantation. The procedure has recently been mode available in Pakistan.

Question 14: As thalassemia is an inherited disease, can we cell it a ‘family’ disease?
Answer: thalassemia is a genetic disorder which runs in families; it is therefore a familial disease. Disorders which run in families and are genetically transmitted or called here do-familial disease. This is to separate them from those disorders which do run in families but they are not genetically transmitted; (they are familial but not hereditary as exemplified by diabetes and high blood pressure).

Question 15: thalassemia reduces the amount of hemoglobin; what measures can be taken so as not to cause thalassemia?
Answer: Maintenance of hemoglobin at or near normal level does not prevent thalassemia. Reduction in the level of hemoglobin is an effect, NOT a cause of thalassemia. Blood transfusion is given to treat anemia; it is not expected to prevent or to eliminate thalassemia.

Question 16: What is genetic counseling; how can we contact a genetic counselor and what can you say on antenatal services?
Answer: Genetic counseling is aimed at informing people about various aspects of genetic disorders; this includes information about the ways by which genetic disorders come about, their ill effects, how to counter them and how to avoid their transmission. There are no available means of eliminating genetic diseases from a population.
Every physician can be a genetic councilor and advise families about genetic disorders. More organized and comprehensive services are available at various thalassemia centers. Also there are specialists in genetic disorders at various institutes including medical colleges and the universities. Considerable information can now be obtained through modern means of mass communication.
Antenatal services are a highly specialized field of medicine. At present there are not many centers which provide these services; some thalassemia centers are planning to offer more organized and effective antenatal services. More needs to be done in the near future. The term antennal service means medical services available for the pregnant lady and also for the unborn baby.

Question 17: Is it true that a person who has thalassemia turns blue after death? If yes, then what causes it?
Answer: The color of the deceased person is due to a number of events which take place terminally. To some extent it is also influenced by the diseases which the person had during life. thalassemia cannot be specifically singled out.

Question 18: We know of two basic forms of thalassemia, i.e. major and minor; increased our knowledge by throwing light on thalassemia Intermedia?
Answer: thalassemia Intermedia, as the name suggests, occupies a position between thalassemia minor and thalassemia major. It is not as asymptomatic and ‘harmless’ thalassemia minor yet these children are anemic; they maintain their hemoglobin at 7-8grams per 100 ml of blood without transfusion which is only occasionally required. The disease is inherited from both parents(like thalassemia major) but unlike thalassemia major, the gene inherited from each parents is not totally defunct. They do produce some normal beta globin chains which enable these children to make some hemoglobin. It is important to diagnose this disease precisely so that these children are not given blood transfusion unnecessarily.

Question 19: Are there any side effects of repeated blood transfusion and for how long chronically transfused thalassemias are expected to live?
Answer: Blood transfusion is not without its own hazards. Excessive and repeated blood transfusion causes cardiac overload and heart failure. Iron which is an integral part of hemoglobin accumulates in patients who are on an ongoing transfusion therapy. Excess iron damages the heart, the liver, the pancreas and other ductless glands (endocrine glands) which perform extremely important functions in the body. In order to save these patients from iron-induced bodily harm, a regular program to eliminated iron from the body is instituted. A drug called Desferioxamine (Desferal) has proven efficacy in this respect. Regular administration of this drug protects their vital organs, prolongs life and makes it more comfortable and functionally more fruitful. Despite all the care and the expense, most of these children die by the age of 15 years.

Question 20: What percentages of people in Pakistan are suffering from this disease?
Answer: In Pakistan, the carrier rate of thalassemia gene is nearly 6% (a carrier is a person who has the abnormal gene but does not show any significant clinical disease). Carriers are instrumental in transmitting the disease to their children. The incidence of thalassemia major (the disease) is fortunately low. Every year nearly 6000 children with beta-thalassemia major are born in Pakistan.
The number of asymptomatic carries of the thalassemia gene (thalassemia minor) in Pakistan is approximately 8 millions.
Carriers of thalassemia gene are for all practical purposes, normal individuals; they do not need any blood support. Patients with beta-thalassemia major however are dependent on regular blood transfusion and they require this support for life.