Beta thalassemia can be simplified as a diseased state of blood in which there is reduced hemoglobin production. Hemoglobin is a protein containing iron and is present in Red blood cells and the major function of hemoglobin is to carry oxygen to the body cells throughout the body. Low hemoglobin content in the beta thalassemia patients usually leads to the lack of oxygen in many parts of the body. Due to shortage of blood in the body patient, skin becomes pale yellow and the other symptoms like weakness and fatigue are prominent. Risk of abnormal blood clotting highly persist in the patients suffering from beta thalassemia.
According to the symptoms severity the disease can be classified into three thalassemia major (Cooley’s anemia), thalassemia intermediate and thalassemia minor. Amongst all the forms of thalassemia, major is considered to be the most dreadful. Diagnostics tests associated with Beta Thalassemia CBC Complete blood Count: CBC determines the amount of hemoglobin and RBC in the blood. Carriers possess regular hemoglobin level but may have a marginally reduced count of RBC. Patients having more severe type of thalassemia will have a lower RBC and hemoglobin levels. The detection of the diseased state comprises of measuring mean corpuscular volume which is the size of the RBC. Therefore the mean corpuscular volume is usually found declining in the patients of thalassemia. Hemoglobin tests will show a significant rise in A2 (>2.5%) and a fall in hemoglobin A (<97.5%) for beta thalassemia. Further tests are needed to be performed in patients with decreasing RBC count (anemia), to determine if thalassemia is the cause of the anemia. To rule out the possibility of iron deficiency anemia iron levels in the blood are checked. DNA testing can also prove as an effective technique for detecting mutation of gene that may cause beta, alpha, or delta thalassemia and also DNA tests verify and confirms other tests, such as blood tests.
Prenatal Genetic testing Thalassemia in fetus can be detected by analyzing the amniotic fluids which is surrounding the fetus. Blood from the developing fetus can also be as good source of sample for detecting thalassemia but aspirating blood sample may cause some damage to a developing fetus, hence taking of amniotic fluid samples is generally preferred. Chorionic Villus sampling (CVS) is another technique of diagnosing genetic problems in the fetus. Sample is collected from the placental tissue or chorionic villus. There is risk of miscarriage involved with every prenatal test. Preimplantation genetic diagnosis (PGD) is a new procedure that may be performed on embryos which are produced by in vitro fertilization. This test is performed on the embryos which are produced artificially and also allows parents to carry and implant only those embryos that are not carrying the mutated thalassemia genes.
Most commonly prone area for beta thalassemia are Mediterranean countries, African countries, and Southeast Asian countries. Thalassemia trait almost affects 5% to 30% of the population in these ethnic groups. The growing population in these countries act as the drivers for beta thalassemia testing kit market. A number of factors such as high implementation cost of sophisticated clinical and preclinical imaging systems, High cost of maintenance, low life span of accessories used are restricting the growth of the global imaging market.
The testing market for beta thalassemia has a growing trend in the countries with ethnic groups like, Mediterranean countries, African countries and few countries in Asia Pacific. As migration has become more common, population of beta thalassemia can be seen rising in the developed countries as well. There are several prenatal test available in the market to determine the possibility of beta thalassemia including both invasive and noninvasive technique. A recent advancement in the testing of beta thalassemia may determine the risk of the disease by in vitro examination of the embryo. Even though there are many such testing available in the market but lack of awareness leads to the negligence and delayed diagnosis of the diseased state. Approximately 50k – 100k children with β-thalassemia major in middle and low income countries die every year.
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The topical regions are more prone to possess high numbers of patients with beta thalassemia like Nigeria, Sudan, Chad, Columbia etc. followed by few South Asian countries. Research Institutes and Pharmaceutical companies, growing usage for beta thalassemia testing and technological advancements, rising awareness are factors driving market growth. Few Asian countries like Myanmar and Thailand also have high number of beta thalassemia patients.