Thalassemia is an inherited blood disorder in which the red blood cells contain a reduced amount of hemoglobin, or in severe cases, a lack of hemoglobin in the cells. Hemoglobin is the oxygen carrying protein part of the red blood cell and a decreased level is the cause of most types of anemia. Thalassemia can range from mild to life threatening and therefore should be monitored.
Patients with Thalassemia face two problems, either they cannot produce enough red blood cells or many cells are destroyed; therefore, there is a shortage of red blood cells in the blood stream. This in turn decreases the amount of oxygen which can be carried effectively throughout the body to vital organs.
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Normal Red Blood Cells |
Beta Thalassemia Blood Cells |
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Hemoglobin contains two different kinds of protein chains named alpha and beta chains. Any deficiency in these chains can cause abnormalities in the formation, size, and shape of RBCs. Also known as Cooley's anemia, beta globin anemia is more common and can range in severity. According to a report by Baker H. Al-Awamy, MD, PhD. in the Saudi Medical Journal, 2000; Vol. 21 (1): 8-17, the Alpha-thalassemia gene is highly prevalent in Saudi Arabia and the interaction with the sickle cell gene is commonly observed.
Additionally, Beta thalassemia is also common in Saudi Arabia along the coastal strip of the Red Sea and in the Eastern province of Al Ahsa. Therefore, in 2003 a royal decree was announced in December and implemented by a February 2004 order for the Saudi Ministry of Health to design a protocol for premarital testing in an effort to reduce possible future genetic problems in families. | |
Thalassemia can result in loss of iron through absorption in the intestinal tract which can cause Hemosiderosis. This in turn is probably responsible for damage to the heart, liver, pancreas, endocrine glands and other organs. Due to the presence of a large amount of fetal hemoglobin, a situation arises where there is not enough oxygen in the cells to function properly. Beta thalassemia can cause shortness of breath, heart palpitations, fatigue, and enlarged bones due to the increased production of red blood cells in the bone marrow. In severe cases, patients may need blood transfusions.
If left untreated, severe anemia can result in insufficient growth and development, as well as other common physical complications that can lead to a dramatically decreased life-expectancy. According to G. Lucarelli in the New England Journal of Medicine 1987; 316: 1050-1055, bone marrow transplantation (BMT) is the only treatment currently available to cure thalassemia.
Additional reference: http://kidshealth.org/parent/medical/heart/thalassemias.html | |
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