Thalassemia anemia

What Is Thalassemia? Thalassemia is an inherited blood condition. If you have it, your body has fewer red You may hear it called things like Constant Spring, Cooley’s anemia, or hemoglobin Bart’s hydrops fetalis. These are common names for different forms of it. The two types are alpha thalassemia and beta thalassemia. The terms alpha and beta refer to the part of the hemoglobin the person is lacking. There are also terms for how serious the thalassemia is. A person with a trait or minor form may not have symptoms or only mild ones. They may not need treatment. Someone with a major form will need medical treatment. Thalassemia Causes and Risk Factors Thalassemia is genetic. It happens when you inherit mutated genes from your parents that change your hemoglobin. You have it from birth. You can’t catch thalassemia the way you catch a If both of your parents carry thalassemia, you might get it. If you inherit two or more copies of abnormal genes from your parents, you may get mild to severe thalassemia, depending on what type of protein is affected. It’s more common in people from Asia, Africa, the Middle East, and Mediterranean countries like Greece or Turkey. Thalassemia Types Thalassemia is really a group of blood problems, not just one. To make hemoglobin, you need two proteins, alpha and beta. Without enough of one or the other, your red blood cells can’t carry oxygen the way they should. Alpha thalassemia means you don't make enough of the alpha hemoglobin protein chain...

Test Id Reporting Name Available Separately Always Performed HPFH Hb F Distribution, B No No SDEX Sickle Solubility, B Yes No IEF Isoelectric Focusing, B No No UNHB Hb Stability, B No No MASS Hb Variant by Mass Spec, B No No ATHAL Alpha-Globin Gene Analysis Yes No WASQR Alpha Globin Gene Sequencing, B Yes, (Order WASEQ) No WBSQR Beta Globin Gene Sequencing, B Yes, (Order WBSEQ) No WBDDR Beta Globin Cluster Locus Del/Dup,B Yes, (Order WBDD) No WGSQR Gamma Globin Full Gene Sequencing Yes, (Order WGSEQ) No THEV0 Thalassemia Summary Interpretation No No This is a consultative evaluation in which the case will be evaluated at Mayo Clinic Laboratories, the appropriate tests performed at an additional charge, and the results interpreted. This evaluation will always include hemoglobins A2 and F and hemoglobin electrophoresis utilizing cation exchange high-performance liquid chromatography (HPLC) and capillary electrophoresis methods. If a serum sample is received, a serum ferritin will always be performed to allow incorporation of possible iron deficiency into profile interpretation and economical test utilization. If the ferritin component is not needed, do not send a serum sample, and the ferritin test will not be performed or charged. Note: If a ferritin is not performed or provided, and if microcytosis is present and no other abnormalities are found (beta thalassemia, a hemoglobin variant that is associated with microcytosis), the case will be reflexed to alpha-globin gene ana...