Authored By Sangeeta Rakesh Goswami:
Annmarie Little was diagnosed to have Thalassemia major, an inherited autosomal recessive blood disorder disease when she was 15 months old based on a spleen enlargement symptom followed by blood test. As the only treatment available, she had to undergo blood transfusion once every four weeks and a painful chelating therapy. At an age when kids spend most of their time playing around, Annmarie had to spend at the Children’s hospital, Boston. Thalassemia major though a life threatening disease, Annmarie is 30 plus and lives a normal life married and with a kid. Thalassemia is a genetic disorder which is inherited when the baby receives two recessive alleles of the particular gene from each of the parent. This is the most common single gene disorder meaning that, mutation in a single gene causes this disorder. The condition arises due to reduction in the rate of synthesis of the globin part of the hemoglobin molecule.
Since a very small quantity of globin is produced, hemoglobin level in the blood reduces drastically causing severe anemia. One might wonder how anemia can ever be life threatening. Well, the hemoglobin level in the blood is so low that sufficient oxygen can not be carried to oxygenate the deoxygenated blood thus leading to heart related and breathing complications. Four types of globin chains called alpha, beta, gamma and delta plus the iron moiety makeup the hemoglobin molecule. Mutation causing a defect in any one of these chains causes alpha , beta, gamma and delta thalassemia respectively. Typical symptoms that could be an indication for thalassemia are, fatigue, light headedness, jaundice, pale skin, belly pain, decreased appetite and weight loss. These symptoms become quite apparent before 1 year of age. Hence, it is important to consult a medical practitioner if any of these symptoms or of typical anemia are noticed. Thalassemia is commonly called Cooley’s anemia named after the American pediatrician Thomas Benton Cooley, the first person to report the disease. It is also called the Mediterranean disease since it’s occurrence is predominant in the Mediterranean. However, North Africa, the Middle Eastern countries, India and Southeast Asia are also affected by Thalassemia. Worldwide, about 1,00,000 infants are affected by this disease each year. Every gene has two copies, each derived from the maternal and paternal parent. T
halassemia major or the disease condition arises only when the progeny acquires the mutated copy from each of its parents. If the progeny receives one mutated gene from one parent and a normal gene from the other parent, it is said to be a carrier of thalassemia meaning that there is a possibility of the defective gene to be passed on to the next generation and may cause the disease. The condition is called thalassemia minor but they are asymptomatic or have a slightly alleviated RBC count but can lead a normal life since one copy of their gene is normal which synthesizes sufficient globin. The situation of thalassemia minor can be assumed to be something with a mild-iron-deficiency anemia. These patients do not require any treatment and they can lead a normal life. However, they should ensure that they don’t have a partner with thalassemia minor so as to ensure that they give birth to a thalassemia-free child.When two individuals who have Thalassemia Minor marry, there is a 25% chance that any pregnancy can result in a child with this threatening disease, 50% chances of being a carrier and 25% chances of the child to be normal. When two individuals have thalassemia major, all the progenies will inherit the disease. If one parent is a thalassemic patient and the other parent is normal, all of the children will have thalassemia minor.
If one parent is a carrier and the other parent is normal, there are 50% chances for any of the child to be carrier and 50% chances to be normal. The red blood cell production in bone marrow of these children may be in proper ratio but instead of surviving for 120 days they die in just 20 -30 days. So no medication can cure this disorder and blood transfusion is must for the patient once every 2 – 3 weeks. Chelating the excess iron in blood is also essential which is administered through a pump attached to a needle placed under the skin. The life of the child (depends upon the quality of the treatment) can be extended up to 4 years to 25 years, By transplanting bone marrow the disease can be cured but the procedure is expensive and demands high standard treatment, and still has significant mortality (over 15%) even if the patient is previously well managed, it is possible only when 100% matched sibling donor is available and all children may not be lucky enough to get that treatment. Scientists are investigating on promising curative treatments like Bone marrow transplantation and Gene therapy to replace the thalassamia genes with normal genes. Moreover a medication called Deferoxamine (Desferal) and a new oral form of this medication assure to noticeably improve the quality of life for victims of Thalassemia Major. So how can it be prevented?
While selecting the life partner the couple should go for thalassamia blood testing and confirm that both of them should not have thalassemia minor. The thalassamia minor couples should go for counseling which can provide information on the chances of having child with thalassemia major or minor. Antenatal diagnosis can also help to detect the disease and pregnancy can be terminated, where appropriate and recommended. A reliable prenatal test is available to diagnose Thalassemia Major in a fetus as early as 10-12 weeks after conception. Couples who are at risk may want to consider this option. They can also opt for invitro fertilization to minimize the chances of having a baby with thalassemia. One must decide if he/she wants to take this risk in planning of one’s family. Most of the Cyprus countries are now free from this fatal disease by following these two methods of prevention with the combination of chelation therapy. May 8th of every year is observed as International Thalassemia day. Thousands of children like Annmarie could have been spared of their ill fate if only there was more awareness and knowledge about the disease.We hope this information about the disease could raise awareness and encourage people to get tested for the trait, Let’s spread this knowledge among our family members, the society and our community, let’s assure the next generation that they would be totally free from Thalassamia. With the right kind of approach and quality of treatment, thalassemic patients can live a normal life like Annmarie.
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