Thalassemia is a genetic disease and inherited in autosomal recessive pattern. There are chances of transferring the disease to the next generation if the parents are suffering from this disease or are the carrier of this disease.
Can Thalassemia Patients Marry?
Thalassemia, in its severest form, is a life threatening disease and began to show its symptoms after months of the birth. It is because, up to 6 months, the hemoglobin present in the infant is fetal hemoglobin which is different from the adult hemoglobin. This hemoglobin is not regulated by the mutated genes thus normally performs its functions. As soon as the function is taken over by adult hemoglobin, problems and symptoms start emerging. It is just impossible for a parent to see their child undergoing blood transfusion without severe mental and physical agony.
If both the parents are carrier of thalassemia, there are 25% chances that the baby will be normal. There are 50% chances of baby being a carrier and 25% chances exist for birth of a baby with thalassemia. The severity of the disease depends upon the number of genes gets mutated. Further, as the severity of the disease increases, the prognosis becomes poor. Thus, patients with thalassemia major are having very less chance of surviving due to the complications caused by the disease as well as due to the therapy of the disease such as blood transfusions.
It is not that thalassemia causes infertility in the patients rather the fact is there are almost 75% chance of baby being either a carrier or developing a disease, a risk which is a higher than normal. It is generally advised not to marry a thalassemia carrier patient if the person himself or herself is the carrier of the disease. The preventive step is to check the genotype of the people in the area where the disease is highly common.
Various countries have adopted various programs to prevent the occurrence of the disease. This disease can be a fit example for prevention is better than cure as being a genetic disease; the cure is unavailable to majority of patients. The program includes education and awareness about the disease, prenatal diagnosis, genotype evaluation prior to marriage in those countries having high rate of occurrence, pre-implantation diagnosis, counseling to the parents and interruption of pregnancy in case where there is confirmation of presence of thalassemia.
Thalassemia Inheritance
Hemoglobin is an important component of the blood and more specifically of the red blood cells. The function of hemoglobin is to carry oxygen to the tissues and helps in production of energy. Structurally, hemoglobin is made up of four globular protein subunits. These subunits are known as alpha globin and beta globin. The synthesis of this globin is done by the expression of genes present on the chromosomes that regulates their synthesis.
The genes for alpha globin are located on chromosome 16 while genes of the beta globin are located on chromosome 11. Single pair of genes is present for beta globin and are named as HBB genes. The alpha globin is controlled by two pair of genes known as HBA1 and HBA2. When the genes get mutated, the result is the production of abnormal hemoglobin and the red blood cells are not formed using this abnormal hemoglobin. This led to anemia which is characterized by the low level of hemoglobin. On the basis of severity of the symptoms, thalassemia is divided in to minor, intermediate and major. The severity of the disease is decided on the basis of number of genes that gets mutated.
More the number of gene mutation, more abnormal the hemoglobin and severe are the symptoms. Thus, while thalassemia minor does not warrant any treatment such as blood transfusion and may not cause anemia, thalassemia major requires frequent blood transfusion and is characterized by severe anemia and iron accumulation. The inheritance of the disease follows an autosomal recessive pattern i.e. both the alleles should be mutated to manifest the symptoms of the disease.
Conclusion
It is generally advised that the parents who are the carrier of thalassemia should not plan a child as there is 75% chance of passing off this disease to the next generation and the baby being either a carrier or sufferer of thalassemia.
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