Thalassemia implies a blood disorder, which passed down from families, in the way the body creates inadequate amount or abnormal form of hemoglobin. Hemoglobin protein present in red blood cells, which carries oxygen. The disorder leads to the destruction of red blood cells in large numbers leading to anemia.
What Blood Tests Are Done To Detect Thalassemia?
Complete Blood Count To Detect Thalassemia
Complete Blood Count abbreviated as CBC refers to evaluation of cells present in the human blood. Similar to other conditions, CBC determines the exact numbers of red blood cells present in your body and the percentage of hemoglobin contained by them. It even evaluates the shape and the size of red blood cells, including the calculation of MCV i.e., mean corpuscular volume. This is because; low MCV case acts as the first indication of your thalassemia problem.
Blood Smear Or Peripheral Smear And Manual Differential To Detect Thalassemia
In blood smear test for thalassemia, any trained lab professional collects a thin layer of the patient’s blood to treat by using a special stain over a slide and under a microscope. Doctor evaluates the type and number of red blood cells, white blood cells and platelets to detect whether they are in matured or in normal condition. If any person has thalassemia, his/her red blood cells appear small in size as compared to the normal ones i.e., low MCV. Even red cells may-
- Hypochromic i.e. pale as compared to normal ones
- Vary in shape and size to cause poikilocytosis and anisocytosis
- Stays nucleated, while normal and matured RBCs never have any nucleus
- Contains uneven distribution of hemoglobin i.e., producing target cells
Higher the percentage of abnormal red blood cells shape and size, higher will be the likelihood of thalassemia disorder, while lesser ability of red blood cells for carrying oxygen.
Iron Studies To Detect Thalassemia
Iron studies via blood tests, as the name indicates include tests to study the presence of ferritin, iron, UIBC i.e. unsaturated iron binding capacity, percentage of transferring saturation, TIBC i.e. total iron binding capacity. These tests primarily measure varying aspects of iron usage and storage by the patient’s body. Because of this, the tests determine whether a thalassemia patient suffers from anemia i.e. deficiency of iron or not.
Hemoglobin Electrophoresis To Detect Thalassemia
Hemoglobin Electrophoresis test primarily assess the relative amounts and type of hemoglobin present in your red blood cells. Reason for this is that beta thalassemia disturbs the balance of chain formed by alpha and beta hemoglobin components. Because of this, such patients have Hemoglobin F in relatively higher percentage, while hemoglobin HbA2 in elevated fraction than of normal ones. Hemoglobin H is present among patients dealing with alpha thalassemia problem. In this way, hemoglobinopathy evaluations are useful to diagnose/screen hemoglobin in newborn baby or to perform prenatal screening when parents remain at relatively higher risk related to hemoglobin abnormalities.
Why Blood Tests Recommended By Doctors To Detect Thalassemia?
A majority of children suffering from moderate or severe forms of thalassemia shows symptoms within only initial 2 years of their lives. In case your doctor suspects that your baby has thalassemia, he/she recommends a few major blood tests.
Especially, if a child suffers from thalassemia, his/her blood test may highlight-
- Low level and relatively smaller than expected numbers or amounts of red blood cells
- Red blood cells in pale color
- Red blood cells with a huge variation in their shape and size
- Uneven hemoglobin distribution in red blood cells to give cells a bull’s eye type of appearance while detecting under a microscope.
- Along with the aforementioned ones, blood test for thalassemia is useful to-
- To evaluate the hemoglobin percentage
- To measure exact amount of iron present in the blood of your child
- To perform DNA analysis for diagnosing thalassemia or determining in case an individual carries mutated genes of hemoglobin.
Therefore, blood tests are the best ways to detect and diagnose whether a person, especially a child is suffering from thalassemia or not.
- Viprakasit V, Ekwattanakit S. Diagnosis of Thalassemias and Hemoglobinopathies. Hemoglobin. 2018;42(1):1-8. doi: 10.1080/03630269.2018.1441975. PMID: 29623757. (https://pubmed.ncbi.nlm.nih.gov/29623757/)
- Verma IC, Saxena R, Kohli S. Frequency of β-thalassemia trait and other hemoglobinopathies in northern and western India. Indian J Hum Genet. 2010 Jan;16(1):16-25. doi: 10.4103/0971-6866.62269. PMID: 20479481; PMCID: PMC2869011. (https://pubmed.ncbi.nlm.nih.gov/20479481/)
- Cao A, Galanello R. Beta-thalassemia. Genet Med. 2010 Mar;12(3):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. PMID: 20110841. (https://pubmed.ncbi.nlm.nih.gov/20110841/)
- Taher AT, Weatherall DJ, Cappellini MD. Thalassaemia. Lancet. 2018 Nov 3;392(10142):155-167. doi: 10.1016/S0140-6736(18)31306-3. PMID: 30377030. (https://pubmed.ncbi.nlm.nih.gov/30377030/)
- Harteveld CL, Higgs DR. Alpha-thalassaemia. Orphanet J Rare Dis. 2010 Apr 16;5:13. doi: 10.1186/1750-1172-5-13. PMID: 20406487; PMCID: PMC2865236. (https://pubmed.ncbi.nlm.nih.gov/20406487/)