Alpha thalassemia major with hemoglobin bart s usually results in fatal hydrops fetalis. Hemoglobin electrophoresis is a blood test that can detect different types of hemoglobin. Thalassemia quantitative a quantitative decrease in the production of alpha or beta globin chain large deletions, point mutations, small insertiondeletion that leads to decreased transcription or an. The hb migration order of ief is the same as that of alkaline electrophoresis with better resolution isoelectric focusing alpha thalassemia multiplex ligation dependent probe amplification mlpa and multiplex pcr alpha globin sequencing beta thalassemia beta globin sequencing.
Dissolved rbc hemolysate release the hemoglobin each type of hgb has and electrical charge of different degree. This causes a striking deficiency in beta chain production and in the production of hb. Hemoglobin electrophoresis is a test that is performed to quantify the different. A hemoglobin electrophoresis test is a blood test used to measure and identify the different types of hemoglobin in your bloodstream.
Beta thalassemia trait is also known as beta thalassemia. Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Complete beta globin coding sequence, the splice sites and other intronic regions known to harbor mutations, the proximal promoter region, and the 5 and 3utr regions clinical sensitivity is up to 97% based on the ethnicity. Laboratory diagnosis of hemoglobinopathies and thalassemia. About fifty eight percent 218 cases were having normal hb electrophoresis results. Alpha and beta thalassemia american family physician. Thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. Beta thalassemia trait is another type of benign hemoglobin trait, which may also cause smaller than normal red blood cells. Hemoglobin disorders hemoglobinopathies information for. The hemoglobins are listed in order of the amount of hemoglobin present fca.
It uses the principles of gel electrophoresis to separate out the various types of hemoglobin and is a type of. Hemoglobin is the ironcontaining protein in red blood cells that carries oxygen to cells. The hemoglobin migration order of ief is similar to alkaline electrophoresis. Hemoglobin electrophoresis is used as a screening test to evaluate for and identify variant and abnormal hemoglobins.
Normally, beta thalassemia trait does not cause any health problems. A child inherits two beta globin genes one from each. Separation of hemoglobins is based on variable rates of migration of charged hemoglobin molecules in an electrical field. If one parent has beta thalassemia trait and the other parent has normal hemoglobin a, there is a 50 percent 1 in 2 chance with. Hemoglobin hb, the abundant oxygencarrying protein found within red blood cells rbcs, is a tetramer composed of two alphalike and two betalike globin chains. If you have beta thalassemia trait, it is possible to pass it to your children. Current practices for screening, confirmation and followup 5 iii. Beta thalassemia trait is inherited from ones parents, like hair or eye color. The child born with thalassemia major has two genes for beta thalassemia and no normal betachain gene. Beta thalassemia major texas department of state health. Beta thalassemia trait and beta thalassemia disease. Current practices for screening, confirmation and followup 3 i. Sep 23, 2016 although the exact diagnosis of thalassemia requires genetic analysis for mutations, hb electrophoresis or hplc findings of markedly elevated hbf may be suggestive. My baby has hemoglobin dbeta thalassemia what does this mean.
Thalassemias are prevalent worldwide with 25,000 deaths in 20. Thalassemia major is the most severe form of beta thalassemia. Hemoglobin electrophoresis as a diagnostic tool in. A red blood cell disorder characterized by presence of fetal hemoglobin f and hemoglobin c and hemoglobin a. Alkaline hb electrophoresis was performed in each case. In beta thalassemia, the gene for making beta globin chains doesnt work normally.
The following list corresponds to this image of an alkaline hemoglobin electrophoresis. Executive summary the hemoglobinopathies are a group of disorders passed down through families inherited in which there is abnormal production or structure of the hemoglobin molecule. Beta thalassemia intermedia is a clinical diagnosis of a. The homozygous form of beta thalassemia thalassemia major is not immediately lethal because there is some production of hb.
This type of thalassemia is observed in many ethnic groups, including some mediterranean populations italians, greeks, and turks. Hplc in characterization of hemoglobin profile in thalassemia. The distinguishing finding in beta thalassemia is a hemoglobin electrophoresis with the finding of elevated hgb a2 and f. Beta thalassemia trait is also known as beta thalassemia minor. Sickle cell anemia hbss, sickle beta0 thalassemia hereditary persistence of fetal hemoglobin. The homozygous form of beta thalassemia thalassemia major is not immediately lethal because there is some production of hb f, which does not contain beta chains.
Mcv and mch are low, but these patients are not transfusiondependent. The clinical picture is a slightly more severe form of hb c disease homozygous hb. In beta thalassemia, the heterozygous state called thalassemia minor is accompanied by no symptoms or at most by very mild anemia. Beta thalassemia trait when you have one working copy of the beta globin gene and one nonworking copy you have beta thalassemia trait. Significance of red blood cell indices in betathalassaemia trait. Hemoglobin electrophoresis shows a preponderance of hbc and variable quantities of hba depending on whether it is a. An extensive pubmed search was done to determine the incidence of thalassemia in different parts of the world, but owing to the rarity of this hb variant, only a handful. Betathalassemia prevalence, pathophysiology and inheritance.
My baby has hemoglobin dbeta thalassemia your babys newborn screening test showed that he or she has hemoglobin dbeta thalassemia. Hemoglobin is a tetramer composed of 4 globin molecules. Helenas hemoglobin electrophoresis procedure, using cellulose acetate in alkaline buffer. Your body makes less of the beta chains, but is still able to make plenty of. Both parents must have beta thalassemia trait or another hemoglobin trait for their child to. Hemoglobin is a protein in the red blood cell that carries oxygen throughout the body. Both will be increased in beta thalassemia trait without iron deficiency, and will be normal or decreased in alpha thalassemia and isolated iron deficiency anemia. Hemoglobin is the protein inside red blood cells responsible for transporting oxygen to your tissues and organs. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. A total of 110 cases were diagnosed as thalassemias and hemoglobinopathies by bio rad variant ii hplc system by. An overview of hemoglobinopathies and the interpretation of. The more severe alpha forms are hb barts very severe and hbh disease moderate.
Beta thalassemia minor hb a is decreased to 94%, hb a 2 is increased at 5%, and hb. No restriction needs to be placed on physical activities. Pdf significance of red blood cell indices in beta. Hb electrophoresis at alkaline ph was performed on genio analyzer. Comparison of two analytical methods electrophoresis and. Beta thalassemia intermedia is a clinical diagnosis of a patient characterized by a less severe chronic anemia and a more variable clinical phenotype. Hemoglobin is the protein inside red blood cells responsible. People with beta thalassemia carrier state heterozygous show no important clinical effects since the activity of their normal beta globin gene makes enough stable globin.
Hba 2 determination is the most decisive test for bcarrier detection. Hb f level is the strongest predictor of morbidity. People with betathalassemia carrier state heterozygous show no important clinical effects since the activity of their normal betaglobin gene makes enough stable globin. Hemoglobin ebetathalassemia hb ebeta0thalassemia ebeta0 moderate to severe anemia. Newborn screening act sheet fsa fsa hemoglobin sbeta. Jun 05, 2014 a total of 110 cases were diagnosed as thalassemias and hemoglobinopathies by bio rad variant ii hplc system by. The difference between beta thalassemia minortrait, beta thalassemia major, and beta thalassemia major variations like beta thalassemia intermedia beta thalassemia minortrait is not a disease. Alkaline andor citrate agar electrophoresis is the commonly used method. As with about half of all hereditary diseases, an inherited mutation damages the assembly of the messengertype rna mrna that is.
A red blood cell disorder characterized by presence of fetal hemoglobin f and. Beta thalassemia major is a lifelong blood disorder that decreases the production of hemoglobin. Sickle cell disease hb ss, sc, or sb occurs in approximately 1 in 400 births in the african american population. There are also some rarer types of thalassaemia such as delta beta thalassaemia, or. Thalassemia syndromes, hemoglobinopathies, hemoglobin electrophoresis, betathalassemia. Hemoglobin electrophoresis procedure helena laboratories. Thalassemia hematology american society of hematology. Alkaline andor citrate agar electrophoresis is the commonly used. Aug 01, 2015 the expected results of hemoglobin electrophoresis in patients with s. Jan 01, 2004 hb f level is the strongest predictor of morbidity. Capillary zone electrophoresis previous investigation reports. Necessary follow up test for confirmation of abnormal hemoglobins detected on cellulose acetate.
There is significantly less hb a than hb s plus a band of hb. Silent carriers of alpha thalassemia and persons with alpha or beta thalassemia trait are asymp tomatic and require no treatment. Babies who have hemoglobin dbeta thalassemia are no more likely to get sick than any other baby. Thalassemia quantitative a quantitative decrease in the production of alpha or beta globin chain large deletions, point mutations, small insertiondeletion that leads to decreased transcription or an unstable transcript beta thalassemia results from mutations in beta genes pathogenesis a result of the free alpha subunits. Individuals with beta thalassemia major require regular blood transfusions and chelation therapy to reduce iron overload. Results obtained by using hemoglobin electrophoresis and hplc diagnosis number of patients % major beta thalassemia 3 4 1. The term thalassemia is derived from the greek words thalassa sea and haema blood and refers to disorders associated with defective synthesis of. Introduction to hemoglobinopathies hemoglobin is a. The more severe beta types are beta thalassaemia major btm and beta thalassaemia intermedia bti. Hba 2 determination is the most decisive test for bcarrier detection although it can be disturbed by the presence of dthalassemia defects.
Thus, hgb found within any blood samples can be separated and. Hemoglobin is the ironcontaining protein in red blood cells that carries oxygen to cells throughout the body. The hb migration order of ief is the same as that of alkaline electrophoresis with better resolution isoelectric focusing alpha thalassemia multiplex ligation dependent probe amplification mlpa. Laboratory diagnosis of thalassemia wiley online library. How i treat thalassemia blood american society of hematology. Type and frequency of hemoglobinopathies, diagnosed in the. Beta thalassemia major also called cooley anemia results in lifethreatening anemia. If one member of a couple has hemoglobin e trait, and the other has beta thalassemia trait, there is a 25% chance with each pregnancy that their child will coinherit both traits. The clinical picture is a slightly more severe form of hb c disease homozygous hb c, with which individuals have a mild hemolytic anemia 1015 gdl and. Beta thalassemia major is a clinical diagnosis referring to a patient who has a severe form of the disease and requires chronic transfusions early in life. Different people will have different symptoms, based on which type of beta thalassemia is inherited. The hemoglobin electrophoresis with beta thalassemia trait usually has reduced or absent hba, elevated levels of. Beta thalassemia minor hb a is decreased to 94%, hb a 2 is increased at 5%, and hb f is 1% lanes 5 and 6.
Hemoglobin electrophoresis an overview sciencedirect topics. International journal of health sciences and research. Although the exact diagnosis of thalassemia requires genetic analysis for mutations, hb. Beta thalassemia is a hereditary disease affecting hemoglobin. The location of the bands in the third lane clues us in on the location of the anode and cathode. Hemoglobin electrophoresis or high pressure liquid chromatography can reveal hemoglobin types and their amounts. Abstract thalassemias are genetic disorders inherited from a persons parents. The retention times, proportion of the haemoglobin %, and peak characteristics for all hemoglobin hb fractions were recorded. There is significantly less hb a than hb s plus a band of hb f. Hemoglobin electrophoresis an overview sciencedirect. Different people will have different symptoms, based on which type.
Without enough hemoglobin, red blood cells do not develop normally which leads to anemia as well as a lack of oxygen supply to the body. In the case of one gene defect, betathalassemia minor trait. Hemoglobin electrophoresis patterns in beta thalassemia. The symptoms of thalassemia major generally appear before a childs second birthday. Three clinical and hematological conditions of increasing severity are recognized. In atrisk areas where thalassemia, hb c, hb oarab, hb e or hb lepore is found, 12 performing hb electrophoresis irrespective of mcv or mch values is required because mcvmch can be normal. Alpha thalassemia intermedia, or hemoglobin h disease, causes hemolytic anemia. Since the question tells you that electrophoresis was performed at ph 8. Hemoglobin sc disease, which is shown in the third lane. The hemoglobin electrophoresis with beta thalassemia trait usually has reduced or absent hba, elevated levels. Definition thalassemia is a group of inherited disorders of hemoglobin synthesis characterized by a reduced or absent one or more of the globin chains of adult hemoglobin. If one member of a couple has hemoglobin e trait, and the other has beta.
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