You have thalassemia, and receiving blood transfusions is a regular part of your care. Now that you’re ready to start a family, you’re worried about whether your child will also become afflicted with the disorder and require constant blood transfusions for the rest of their life. It is your right to be aware of your options for a healthy life and a normal child.
Understanding thalassemia
Thalassemia, a condition affecting red blood cells (RBCs), is also referred to as Mediterranean anemia. Hemoglobin, the protein that carries oxygen, is impacted by this illness. Anemia results from the excessive destruction of RBCs caused due to this illness. The alpha and beta chains are the two distinct chains that make up hemoglobin. There are two types of thalassemia, alpha- and beta-thalassemia, depending on which part of hemoglobin is affected.
A copy of a defective gene is passed from parents to children, resulting in thalassemia, a genetic disorder that is inherited in families. Both parents must carry the faulty gene and pass it on to their children for the disorder to manifest. The child does not acquire the characteristic symptoms of the illness if only one parent carries the gene. In such a case, the child develops a disease known as thalassemia trait, which is curable. In this instance, the child picks up the faulty gene.
The faulty gene that runs in the family is the primary risk factor for thalassemia. Individuals who have a family member with the illness run the risk of getting it themselves or passing it on to their offspring. Different kinds of thalassemia have been linked to specific ethnic groups. African Americans, Asians, and Chinese are among them.
Symptoms
The degree of thalassemia affects the symptoms that a person is experiencing. Individuals who are merely carriers might not exhibit any noticeable symptoms. Some babies born with faulty genes inherited from both parents may exhibit symptoms within the first two years of life, while other babies may not exhibit symptoms at all. The signs and symptoms are those of anemia, or a low red blood cell count. These include weakness, tiredness, breathlessness, and irritability. There is a pale appearance and slow growth in children. Abdominal protrusion and facial bone deformities may occur gradually. Urine can darken and skin can turn yellowish due to excessive destruction of red blood cells.
Diagnosis
Blood tests are primarily used to make the diagnosis. The RBCs are low in number and have a pale appearance. They vary in size and shape. These cells may have an uneven distribution of hemoglobin, giving them a “bull’s eye appearance.” These characteristics are all visible under a microscope. In order to analyze the hemoglobin and find any faulty genes, additional blood tests such as hemoglobin electrophoresis and mutational analysis may be performed. One can measure the blood’s iron content. Physical examination may reveal a pale appearance and an enlarged spleen which is the site of destruction of defective RBCs. In the abdomen, the spleen is located close to the stomach.
Parents can choose to have their unborn child tested for thalassemia if they think their child may have the disease. The tissue that connects the unborn child to the mother’s womb, the placenta, is sampled and examined as part of the tests performed on unborn children. It is known as chorionic villus sampling and is performed approximately on the eleventh week of pregnancy. Around the sixteenth week of pregnancy, a different test known as amniocentesis is performed, which entails sampling and analyzing the fluid that surrounds the developing fetus. Testing of the baby’s blood is known as fetal blood sampling, and it typically takes place 18 weeks into a pregnancy. This is accomplished by using ultrasound guidance to insert a needle into the baby’s vessels through the mother’s abdomen.
Treatment
Treatment depends upon the severity of the condition. Treatment mainly rests upon blood transfusions. The mild cases may occasionally need a blood transfusion after a surgical procedure or an infection. Several blood transfusions are required for moderate-to-severe cases each year. Transfusions can be administered with folate supplements. These help in keeping red cells healthy. Frequent blood transfusions may result in the body accumulating dangerously high amounts of iron. Chelation therapy is required to eliminate these. One way to accomplish this would be to inject or give pills under the skin. Finally, a bone marrow transplant may be able to help very severe cases, but it requires a compatible donor and comes with a number of risks.
Complications
Iron overload, infection, bone abnormalities, delayed growth, liver issues, an enlarged spleen, and cardiac issues such as heart rhythm abnormalities and congestion are among the complications associated with thalassemia.
Coping
Some precautions can help to cope with thalassemia. A balanced diet high in vitamins and calcium is recommended. Regular folic acid supplementation is recommended to support the production of new red blood cells. Iron-containing vitamin supplements ought to be avoided. Too much iron in the diet or from supplements may be detrimental. Tannins in tea bind iron, thus, tea helps to prevent iron absorption in the stomach. However, tea should not be used as a replacement for chelation, if one is required. It is important to prevent infections. Hand washing should be done frequently, and contact with infected individuals should be avoided. Family and friends are the best support. Support groups make living with the illness easier and help people cope with it. They assist by giving helpful information and making assistance and treatment easily accessible.
Individuals with thalassemia who intend to become parents ought to seek genetic counselling. This will assist in estimating the likelihood that the faulty gene will be passed on to the progeny. Analyzing the baby’s prenatal gene pool can be used to screen for genetic defects.
Outlook
Thalassemia requires ongoing medical care and is a lifelong condition. If they receive the right care and precautions, people with thalassemia can lead normal lives. When given the right genetic counselling, they can even raise normal children.
