Beta-thalassemia intermedia

Beta-thalassemia intermedia: Description, Causes and Risk Factors: -thalassemia intermedia. Beta-thalassemia intermedia is an inherited blood disease that affects hemoglobin, the major component of red blood cells which carry oxygen through the body. Hemoglobin is made up of two different oxygen-carrying proteins, alpha and beta. People with beta-thalassemia intermedia do not produce enough beta protein — and in some cases do not produce it at all — resulting in a shortage of red blood cells, a condition known as anemia. Without sufficient numbers of properly functioning red blood cells, the organs of the body do not receive enough oxygen. The disease is most common in people of Mediterranean descent, especially in those from Sardinia and Cyprus. In Cyprus, 1 in 7 people are carriers of the disease, a rate which prompted a successful government-run prevention program there. Beta-thalassemia intermedia is also commonly found in the Middle East and Asia. Beta-thalassemia intermedia is the result of deficient or absent synthesis of beta globin chains, leading to excess alpha chains. Beta globin synthesis is controlled by one gene on each chromosome 11. Beta thalassemia intermedia occur from any of more than 200 point mutations and (rarely) deletions of the two genes. Beta globin chain production can range from near normal to completely absent, leading to varying degrees of excess alpha globin to beta globin chain production. The one gene defect, beta thalassemia trait (minor), is asymptomatic and results in microcytosis and mild anemia. If the synthesis from both genes is severely reduced or absent, the person has beta thalassemia major, also known as Cooley anemia. Persons with beta-thalassemia intermedia major are almost never symptomatic at birth because of the presence of HbF, but symptoms begin to develop by six months of age. If the synthesis of beta chains is less severely reduced, the person has beta thalassemia intermedia. These persons experience symptoms that are less severe and do not require lifelong transfusions to survive past 20 years of age.Beta-thalassemia intermedia Symptoms: Some people are "silent carriers" of beta-thalassemia intermedia and do not have any symptoms. People who are silent carriers have beta thalassemia trait. They often have mild anemia, which is only diagnosed through a blood test. Other symptoms may include: Fatigue and weakness.
  • Pale skin or jaundice (yellowing of the skin).
  • Protruding abdomen with enlarged spleen and liver.
  • Dark urine.
  • Cholelithiasis.
  • Moderate to severe skeletal changes.
  • Extramedullary masses of hyperplastic erythroid marrow.
  • Abnormal facial bones and poor growth.
  • A poor appetite.
Diagnosis: Commonly occurring mutations of the HBB gene are detected by a number of polymerase chain reaction (PCR)-based procedures. The most commonly used methods are reverse dot blot analysis or primer-specific amplification with a set of probes or primers complementary to the most common mutations in the population from which the affected individual originated.Other methods based on real-time PCR or microarray technology because of their reproducibility, rapidity, and easy handling are potentially suitable for the routine clinical laboratory. If targeted mutation analysis fails to detect the mutation, scanning or sequence analysis can be used. Sensitivity of both mutation scanning and sequence analysis is 99%. In the meantime, the presence of an extended deletion should be investigated by using multiplex ligation-dependent probe amplification (MPLA). Treatment: The most common treatment of beta-thalassemia intermedia is blood transfusions, which provide a temporary supply of healthy red blood cells to bring oxygen to the body. Among people with thalassemia major, transfusions may take place every two to three weeks. While these transfusions can be life-saving and life-enhancing, they result in a toxic buildup of iron in the blood. To counteract this side-effect, people with beta thalassemia intermedia require a procedure called chelation therapy in which a medication is taken to eliminate excess iron from the body. These individuals require frequent monitoring by a physician to assess the efficacy of transfusion/chelation therapy. In a small minority of people, a bone marrow transplant from a sibling or other suitable donor has been able to cure the disease. This procedure, however, is risky and could even be fatal. NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


Submit a Comment

Your email address will not be published. Required fields are marked *

Cart Preview

Eating Vegetables, Fruit, and Fish May Keep Your Brain Sharp

Eating Vegetables, Fruit, and Fish May Keep Your Brain Sharp

A new study finds that brain volumes of people who regularly eat vegetables, fruit, and fish are on average 2ml greater than brain volumes of those who often drink sugary beverages. A brain volume reduction of 3.6ml equals to one year of aging. For the study, the...

Quiz about this article

Please answer on few questions to make our service more useful

Featured Products

Spring is Here: Top 6 Outdoor Sports

Good weather is the best reason to do outdoor sports, which will help not only lose weight, but also will strengthen health. Bicycle The sun dries out the local paths, so you can safely sit on your favorite bike and confidently twist the pedals, where the eyes look....

read more

First Aid in Case of Injuries for Sport and Exercise

First aid for injuries consists of simple rules that need to be clearly implemented. If this is a closed injury, you need to immobilize the injured limb, otherwise the person may lose consciousness from a painful shock. If you need to get to the emergency room...

read more