Question 21: Are patients with thalassemia dependant on repeated blood transfusion?
Answer: Patients with thalassemia minor either have normal or slightly less than normal level of hemoglobin; they almost never need blood transfusion. Children with thalassemia major always need blood transfusion to maintain their hemoglobin even at moderate levels. It may be said that blood transfusion is the life line for children with beta-thalassemia major.

Question 22: Why are patients with thalassemia anemia?
Answer: thalassemia is a disorder of hemoglobin synthesis. These patients not only produce fewer red cells, the hemoglobin contents of each red cell is also below normal. Life span of the red cells is also decreased. The large spleen, which almost all of these patients develop, traps and destroys many of the red cells which pass through it. All these factors contribute toward anemia in these patients.

Question 23: Is thalassemia a disorder of red cells in the blood?
Answer: thalassemia is primarily a disease of red blood cells. These are deformed, misshapen and have very small amount of hemoglobin in them. White blood cells and platelets (other two cellular elements in blood) may be only secondarily affected, if at all.

Question 24: Is thalassemia transmitted from the parents to the children through abnormal genes?
Answer: thalassemia being a genetic disorder is transmitted by the parents to their children through inheritance or genes for beta-thalassemia.
Question 25: What are the hazards of repeated blood transfusion?
Answer: Blood transfusion, as is required for patients with thalassemia, exposes them to certain hazards; these include:
1. Excessive iron deposition in the body.
2. Transfusion transmitted diseases like hepatitis and AIDS.
3. Overloading the circulatory system.

Question 26: What are the symptoms which indicate that a person must Govt. for screening test?
Answer: Symptoms of thalassemia are chiefly due to anemia. These children are pale, week and sleepy. They do not take part in physical activities like normal children. Also they do not eat well, as a result they. These children are also jaundiced (Yellow discoloration of eyes).

Question 27: Can a child whose parents are carriers of thalassemia, be born without the trait?
Answer: Yes, there is a 50% chance for a child to be normal if only one parent has thalassemia trait. This is reduced to 25% if both parents have thalassemia trait.
Question 28: What are my chances of inheriting thalassemia?
Answer: Chances of inheriting thalassemia depends upon the status of the parents. This is illustrated in table.

Question 29: Can shortage of blood cause heart attack in patients who have thalassemia?
Answer: Shortage of blood (anemia) in patients with thalassemia major they does impair the function of the heart. This is called heart failure. These children do not get heart attack in the technical sense. Patients with thalassemia minor generally are not very anemia and they do not develop any cardiac symptoms due to anemia.

Question 30: What is the difference between lymphoma and leukemia?
Answer: Both leukemias and lymphomas are the malignant disorders (cancerous conditions) of the blood forming system.
Leukemia arise from the bone marrow. As the leukemic cells enter the blood stream they reach every nook and corner of the body.
Lymphomas on the other hand arise mostly from the lymph glands and cause their enlargement in the from of a localized swelling in neck, axilla, chest and abdomen. They do not, as rules, enter the blood stream hence their spread is not in leukemias. This is one of the many differences which separate leukemias from lymphomas.

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 7-8grame 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.

Question 1: If one parent has alpha- thalassemia minor while the other has beta- thalassemia minor, which type of the thalassemia will the child have?
Answer: In this marriage for every pregnancy, there will be a 25% chance of conceiving a normal baby, 25% of alpha-thalassemia minor, 25% chance of beta- thalassemia minor 25% chance of having a baby with alpha-beta thalassemia which will clinically behave as thalassemia Intermedia (more severe than thalassemia minor but less severe than thalassemia major).

Question 2: Can thalassemia major patients also carry other diseases?
Answer: Having thalassemia major does not confer immunity against other diseases. These children can contract all those illness which non-thalassemia children may acquire. In fact these children are some what more susceptible to other disease because of their poor nutrition, repeated blood transfusions and generally poor socio-economic conditions.
Increased insceptibility to bacterial infection occurs in all forms of severe thalassemia, possibly because the relatively high serum iron levels may favor bacterial growth, or because of blockage of the mononuclear phagocyte system due to increased rate of destruction of red cells.

Question 3: What is Blood Cancer?
Answer: These are a group of disorders in which one or the other type of blood cells start to multiply and grow and their behavior becomes uncontrolled and ….. This causes excessive increase in the number of these cells which…… causes the death of the patients. The word ‘blood cancer’ usually refers to an over production and un controlled proliferation of the white cells. A better known and universally accepted name for this disease is leukemia.

Question 4: Is there a complete cure of thalassemia?
Answer: The only curative treatment of thalassemia major is bone marrow transplantation. Where as minor can also be cured by this procedure, it is not done in this condition. It is not necessary to treat patients with thalassemia minor because it is a harmless condition which does not effect the and the functions of these individuals. For such a mid disease bone marrow transplantation which is a serious and costly adventure is NEVER warranted.

Question 5: How does thalassemia affect the quality of life: can patients with thalassemia major have children?
Answer: In thalassemia major the blood which is produced is less in amount and poor in quality. These children are severely anemic; they must receive regular blood transfusion. This exposes them to a number of diseases including hepatitis, AIDS and iron overload. Their abnormal facial features, dark complexion, stunted growth, distended abdomen etc. make them handicapped in more than one ways. These children are sexually underdeveloped and many of them die in early childhood or during adolescence. Those who are “perfectly” managed, as in some of the developed countries, reach adulthood and they get married. Children of patients with thalassemia major will all have thalassemia minor provided that the spouse does not have the thalassemia gene. If two “well” treated persons with thalassemia major get married, all of their children will have thalassemia major.
Increased iron absorption causes accumulation of iron, first in the Kupffer cells of the liver and in the RE cells of the spleen and later in the parenchymal cells of the liver.
Iron accumulates not only in liver but also endocrine glands, particularly the parathyroid, adrenals, and pancreas, and most important, in the myocardium. Iron accumulation in the Myocardium leads to death, either by involving the conduction tissue or by intractable cardiac failure.
Other consequences of cardiac failure include diabetes, hyperparathyroidism, and hypoigonadium, mainly due to end organ failure.

Question 6: Is there any thing we can do to finish the existing carriers?
Answer: It is not possible to eliminate the carriers of -thalassemia gene. At present there are nearly 8 million (80 laces) carriers of -thalassemia living in Pakistan.
Genetic engineering and gene manipulation some day may provide an outlet, but at present it is a situation which must be accepted as reality of life.

Question 7: What are the symptoms beta-thalassemia major?
Answer: thalassemia is a disease of the red cells, they are less in number and poor in quality. These patients are therefore severely anemic. To correct anemia they need life long support through blood transfusion. The large amount of iron which accumulates in their body effects may glands is secondary to iron deposition, it is not due to the disease.

Question 8: How can thalassemia be categorized?
Answer: thalassemia can be categorized in many ways; it can be that thalassemia is
- A genetic disorders
- A blood disorder
- A disorder of hemoglobin synthesis

Question 9: What is the level of hemoglobin in a normal person?
Answer: Average amount of hemoglobin in a person varies according to the age and sex of the individual. This is shown in a tabulated from below.

Question 10: What is the difference between thalassemia and AIDS?
Answer: thalassemia is a genetic disorder caused by an abnormality of the genes which are responsible for the formation of globin chains in the hemoglobin molecule. The child is born with thalassemia and live with for the rest of his life, it is neither an infectious disease nor it is contagious.
AIDS on the other hand, is an acquired infectious disease caused by a virus called Human Immunodeficiency virus (HIV). It is a contagious disease which spreads through blood and through sexual contact. As there is no treatment of this disease, it ultimately leads to the death of the patient.