Thursday, June 5, 2008

Pregnancy Update - 12 weeks and 5 days

I went for my second OB visit yesterday. Everything went well. We opted out of doing the ultrasound - but the doctor was able to find the heartbeat and it was beating strong! They did all the initial bloodwork with a bit extra to determine if I am a carrier of the Beta Thalassemia trait. If I am, then we will likely have to get Brannon's bloodwork tested to see if he is as well.
The developmental milestones this week are:
Vocal cords start to form! They don't make sound yet, but they will!
The baby is 3 inches CRL and weighs one ounce. The tiny fingerprints and all 20 teeth are formed.
Brief information about Thalassemia:
  • Thalassemia is a group of inherited blood disorders that can cause mild to severe anemia.
  • Thalassemia involves problems with the production of hemoglobin in red blood cells. As a result, a person with thalassemia doesn't have enough hemoglobin or red blood cells to carry oxygen throughout the body (anemia).
  • There are two main types of thalassemia: alpha and beta thalassemia. Alpha thalassemia occurs when there is a problem with the alpha globin chain that is part of hemoglobin. Beta thalassemia occurs when there is a problem with the beta globin chain.
  • There are mild, moderate, and severe forms of thalassemia. Severe beta thalassemia is often called Cooley's anemia.
  • The most common severe form of thalassemia seen in the U.S. is beta thalassemia major, or Cooley's anemia, and mainly affects people from Mediterranean countries and Asia.
  • Some people are "silent carriers" with no symptoms. Other carriers have mild anemia but usually need no treatment. Carriers can pass thalassemia genes on to their children.

This is only an issue because we have discovered that Bella carries the Beta Thalassemia trait (we discovered this because her iron counts were low and even with iron supplements - it did not increase - at 12 months, they did a vein draw and did a complete blood "workup" and it was discovered that her results were in line with the Beta Thalassemia trait). We don't know who passed this trait onto her as we are not aware of any Mediterranean or Asian decents in our family. It is not something we are worried about but the issue can arise if Brannon and I are both carriers of the trait and that if we both pass the trait on - the baby could have the disorder. We'll see what the bloodwork shows and go from there.

Here is some more information on Thalassemia:

People whose hemoglobin does not produce enough beta protein have beta thalassemia. It is found in people of Mediterranean descent, such as Italians and Greeks, and is also found in the Arabian Peninsula, Iran, Africa, Southeast Asia and southern China.

There are three types of beta thalassemia that also range from mild to severe in their effect on the body.

Thalassemia Minor or Thalassemia Trait. In this condition, the lack of beta protein is not great enough to cause problems in the normal functioning of the hemoglobin. A person with this condition simply carries the genetic trait for thalassemia and will usually experience no health problems other than a possible mild anemia. As in mild alpha thalassemia, physicians often mistake the small red blood cells of the person with beta thalassemia minor as a sign of iron-deficiency anemia and incorrectly prescribe iron supplements.

Thalassemia Intermedia. In this condition the lack of beta protein in the hemoglobin is great enough to cause a moderately severe anemia and significant health problems, including bone deformities and enlargement of the spleen. However, there is a wide range in the clinical severity of this condition, and the borderline between thalassemia intermedia and the most severe form, thalassemia major, can be confusing. The deciding factor seems to be the amount of blood transfusions required by the patient. The more dependent the patient is on blood transfusions, the more likely he or she is to be classified as thalassemia major. Generally speaking, patients with thalassemia intermedia need blood transfusions to improve their quality of life, but not in order to survive.

Thalassemia Major or Cooley's Anemia. This is the most severe form of beta thalassemia in which the complete lack of beta protein in the hemoglobin causes a life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care. These extensive, lifelong blood transfusions lead to iron-overload which must be treated with chelation therapy to prevent early death from organ failure.

Other Forms of Thalassemia. In addition to the alpha and beta thalassemias, there are other related disorders that occur when the gene for alpha or beta thalassemia combines with an abnormal or mutant gene. E Beta Thalassemia. Hemoglobin E is one of the most common abnormal hemoglobins. It is usually found in people of Southeast Asian ancestry, such as Cambodians, Vietnamese and Thai. When combined with beta thalassemia, hemoglobin E produces E beta thalassemia, a moderately severe anemia which is similar in symptoms to beta thalassemia intermedia.Sickle Beta Thalassemia. This condition is caused by a combination of beta thalassemia and hemoglobin S, the abnormal hemoglobin found in people with sickle cell disease. It is commonly found in people of Mediterranean ancestry, such as Italians, Greeks and Turks. The condition varies according to the amount of normal beta globin produced by the beta gene. When no beta globin is produced by the beta gene, the condition is almost identical with sickle cell disease. The more beta globin produced by the beta gene, the less severe the condition.

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