Thalassemia is a blood disorder that can cause anemia and other health problems. It is an inherited blood disorder characterized by less hemoglobin and fewer red blood cells in your body than normal. Thalassemia affects the body’s ability to make healthy hemoglobin, a substance found in red blood cells. Hemoglobin is the iron-rich protein that carries oxygen to all parts of the body, and carbon dioxide to the lungs to be exhaled. It is caused by genes that are mutated. If your baby has thalassemia, it means that both you and your baby’s father are carriers of the mutated gene or genes.
If your child has mild thalassemia, it may not need treatment. But if the problem more severe form of the disorder, baby may need regular blood transfusions. You can also take steps on your own to cope with your child’s fatigue, such as choosing a healthy diet and making exercise as a part of routine.
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin. Thalassemia disrupts the normal production of hemoglobin and healthy red blood cells. This causes anemia. With anemia, blood doesn’t have enough red blood cells to carry oxygen to your tissues — leaving your baby fatigued. Thalassemia is passed down through families and is carried on a recessive gene.
The type of thalassemia you have depends on the number of gene mutations you inherit from your parents and which part of the hemoglobin molecule is affected by the mutations. The more mutated genes, the more severe your thalassemia. Hemoglobin molecules are made of alpha and beta parts that can be affected by mutations and cause thalassemia accordingly.
Types, Symptoms and Treatment for Thalassemia in Infants
The alpha hemoglobin chains are produced by four genes. Alpha thalassemia is caused by a mutation in one or more of these genes.
Beta thalassemia is much more common than alpha thalassemia. Many have babies show no symptoms and hence parents are unaware that their baby carries the mutated gene.
The beta hemoglobin chain is produced by two genes. Beta thalassemia is caused by a mutation in either one or both genes.
Some of the more common symptoms of beta thalassemia include:
- fatigue, weakness, or shortness of breath
- low energy and lazy
- a pale appearance or a yellow color to the skin (jaundice)
- deformities of the facial bones
- slow growth
- a swollen abdomen
- dark urine
Babies with beta thalassemia major appear to be healthy at birth, but develop symptoms of anemia as they grow. Babies who begin to show symptoms of beta thalassemia after a few healthy months may fail to grow normally (failure to thrive); have trouble feeding; and have episodes of fever, diarrhea, and other intestinal problems.
If your baby has alpha thalassemia, your baby may start to have symptoms of anemia in his first year. Most children are only mildly or moderately affected, and don’t need treatment. However, severe alpha thalassemia, if left untreated, can cause anemia, enlargement of the spleen, and may affect how your child grows.
Because alpha thalassemia major is most often a fatal condition in the prenatal or newborn period, treatment has previously been focused on identifying affected pregnancies in order to provide appropriate management to reduce potential maternal complications. Pregnancy termination provides one form of management. Increased prenatal surveillance and early treatment of maternal complications is an approach that is appropriate for mothers who wish to continue their pregnancy with the knowledge that the baby will most likely not survive.
A handful of infants with this condition have survived long-term though. Most of these infants received experimental treatment including transfusions before birth, early delivery, and bone marrow transplantation before birth, although the latter procedure had not yet been successful. For those infants who survive to delivery, there seems to be an increased risk of developmental problems and physical effects, particularly heart and genital malformations.
Individuals with beta thalassemia major receive regular blood transfusions, usually on a monthly basis. This helps prevent severe anemia and allow for growth and development that is more normal. Transfusion therapy does have limitations, however. Individuals can develop reactions to certain proteins in the blood, called a transfusion reaction.
Children with mild alpha thalassemia do not require any treatment. However, they may have a chance of having a child with more severe alpha thalassemia. Iron supplements will not improve anemia caused by alpha thalassemia. So the should be administered if the doctor recommends.
In most cases, you can’t prevent thalassemia. If you have thalassemia, or if you carry a thalassemia gene, consider talking with a genetic counselor for guidance if you’re thinking of having children.