Thalassemia Disorders

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Nikki Sajudin

Thalassemia Disorders

At age eleven, I remember my doctor announcing that I had B thalassemia trait minor and I was a carrier. It did not strike me as hard as it did when I found out that a friend’s aunt has recently passed away from being defeated by B Thalassemia Major. In the years to come, I understood that the only way I could make sure I had happy healthy children, was to dive into genetic counseling with whoever was to become my husband. When the time came I was over joyed to find out that my spouse was not a carrier and went on to having two amazing boys. One who is also a carrier of B Thalassemia Trait. The disorder that causes me mild anemia was passed from my paternal grandmother, to my father, to me and my youngest son. I am fortunate and very grateful for the diagnosis at age eleven. I now can ensure that youngest son will go on to raising his very own happy healthy children.

Thalassemia is a group of related blood disorders that cause abnormal hemoglobin production. It is a genetic disorder that is recessive; therefore both parents must be carriers to pass on the disorder in its major form. Thalassemia is categorized into two types, major and minor. Individuals suffering from the major form, tend to need frequent blood transfusions in order to survive. (Garrison & Peterson ) Other names for Thalassemia disorders are: Mediterranean Anemia, Sickle Cell Anemia, and Cooley’s anemia (named after the first physician who diagnosed it). Thalassemia disorders are commonly found in people from Mediterranean decent, South East Asia, South Asia, the Middle East, China and the Caribbean. It appears that Thalassemia arose in the areas of the world where Malaria was an epidemic. In South Africa many people with Malaria developed Sickle cell Anemia. (Garrison & Peterson )

With increased migration of people from these countries into the United States; inter-marriage increasing between people from different ethnic backgrounds, more Hispanics and Latinos are affected by Thalassemia disorders.

“Thalassemia is the most common inherited single gene disorder in the world.” (www.thalassemia.us) The Thalassemia’s can be broken down into two main types, Thalassemia A and Thalassemia B, each yielding sub disorders.

To understand more about the distinction of these disorders, we must first look at hemoglobin. Hemoglobin contains proteins called globins. Hemoglobin production involves two sets of genes. The genes are produced on different chromosomes which in turn produce two different pairs of proteins, alpha globin and beta globin. Each will contain two alpha and two beta proteins. (http://medical-dictionary.thefreedictionary.com/hemoglobin) When hemoglobin is functioning properly it binds and releases oxygen. This occurs when the two alpha proteins are connected to the two beta proteins. The gene for alpha globin is located at chromosome 16 and the gene for beta globin is located at chromosome 11. (Garrison & Peterson ) (www.webmd.com/atozguide/thalassemia-topic-overview, 2011)

Parents determine the genes that their children inherit, therefore, “Thalassemia will occur if one or more of the genes fail to produce protein.” (www.nhlbl.nih.gov/health-topic/topics/Thalassemia) A defective beta globin will result in Beta Thalassemia and a defective alpha protein will result in Alpha Thalassemia.

There are several types of Thalassemia A. The A types include the following: Silent Carrier State – this form is difficult to detect and generally causes no health issues. (www.thalassemia.us) Hemoglobin Constant Spring – this form gets its name from where it was found in Jamaica. Like Silent Carrier, individuals do not experience health issues. (www.thalassemia.us) Thalassemia Trait- In Thalassemia Trait there is an increased lack of alpha proteins. It is often confused with iron deficiency anemia. Individuals have mild anemia because of smaller red blood cells. (www.thalassemia.us) Hemoglobin H...
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