Thalassemia
By Alex Olson
Overview
Thalassemia is a genetic blood disorder where there is an abnormal amount of production of hemoglobin, a molecule in red blood cells that carries oxygen. There are two types of thalassemia, alpha and beta.
Symptoms for Beta Thalassemia
Beta Thalassemia causes lack of energy, paleness, and stunted growth. The body will try to create more blood, but will not work because the genetic instruction to make hemoglobin is not there. Bone expansion will occur causing change in appearance and an increased risk for bone fractures. In severe cases, it causes heart, liver, and spleen problems, leading to death.
Symptoms for Alpha Thalassemia
Symptoms for Alpha Thalassemia include pale skin, weakness, fatigue, enlarged spleen and liver, and heart defects. Pregnant woman and their babies are at an increased risk if they have Alpha Thalassemia.
Treatment for Beta Thalassemia
People who have Beta Thalassemia will receive monthly blood transfusions, and can help with growth and development. Another medicine called desferoxamine is taken through an automatic pump about five nights per week, to combat the extra iron taken in from blood transfusions.
Treatment for Alpha Thalassemia
Since Thalassemia Alpha affects pregnant women and that their children usually die in childbirth, treatment is focused on being able to reduce the complications for the parent and the baby.
Current Research
Stem cell research is being used to find a cure by inserting a beta globin gene into stem cells. Another is to reactivate the genes that make fetal hemoglobin, the type find in newborns. It is believed that it will make up for the adults deficiency of hemoglobins.
Heredity
Thalassemia is passed from parents to children using the mutated Thalassemia gene. A child that gets the mutated gene is known as a carrier. Many of the carries will live full, healthy lives.
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"Alpha Thalassemia." Genetics Home Reference. 2009. Genetics Home Reference.
"Thalassemia." Gale Virtual Reference Library. 2010. Gale Virtual Reference
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