Anyone with thalassemia should consult a properly qualified hematologist.
Thalassemias may co-exist with other deficiencies such as folic acid (or folate, a B-complex vitamin) and iron deficiency (only in Thalassemia Minor).
DNA analysis
This test is used to investigate deletions and mutations in the alpha and beta globin producing genes. Family studies can be done to evaluate carrier status and the types of mutations present in other family members.
DNA testing is not routinely done but can be used to help diagnose thalassemia and to determine carrier status. In most cases it is likely the treating physician will use a clinical prediagnosis by symptoms of anemia: tiredness, breathlessness, & poor exercise tolerance. Furthermore, abdominal pain due to hypersplenism and splenic infarction may occur & right upper quadrant pain caused by gallstones may occur are major clinical manifestations. However to coin thalassemia's under signs and symptoms would be misleading when giving a diagnosis.
Physicians will note these signs as associative due to the complexity of the nature of this disease. The following are also associative signs which can attest to the severity of the phenotype: pallor, poor growth, inadequate food intake, splenomegaly, jaundice, maxillary hyperplasia, dental malocclusion, cholelithiasis, systolic ejection murmur in the presence of severe anemia and or pathologic fractures. Based on a number of key symptoms tests are order for the differential diagnosis. These tests include: CBC; Hemoglobin electrophoresis; Serum Transferin, Ferritin, Fe Binding Capacity; Urine urobilin & Urobilogen; Peripheral Blood Smear; Hematocrit; & Serum Bilirubin. Further genetic analysis may include HPLC should routine electrophoresis prove difficult. But before any of these test are ordered a physician should inquire into a detailed family history..
Thalassemia Major and Intermedia
Thalassemia Major patients receive frequent blood transfusions that lead to iron overload. Iron chelation treatment is necessary to prevent iron overload damage to the internal organs in patients with Thalassemia Major. Because of recent advances in iron chelation treatments, patients with Thalassemia Major can live long lives if they have access to proper treatment. Popular chelators include deferoxamine and deferiprone. Of the two, deferoxamine is preferred; it is more effective and is associated with fewer side-effects.
The most common complaint by patients receiving deferoxamine is that it is difficult to comply with the subcutaneous chelation treatments because they are painful and inconvenient. The oral chelator deferasirox (marketed as Exjade by Novartis) was approved for use in 2005 in some countries. It offers some hope with compliance but is very expensive (~US$100 per day) and has been associated with deaths from toxicity.
Untreated thalassemia Major eventually leads to death usually by heart failure, therefore birth screening is very important.
Bone marrow transplantation is the only cure for thalassemia, and is indicated for patients with severe thalassemia major. Transplantation can eliminate a patient's dependence on transfusions. If there is no matching donor for a child with thalassemia, PGD for HLA matching may be an alternative, where preimplantation genetic diagnosis (PGD) is used for human leucocyte antigen (HLA) matching to give rise do a sibling that is free of the disease and can be a donor for the sick child.
All Thalassemia patients are susceptible to health complications that involve the spleen (which is often enlarged and frequently removed) and gall stones. These complications are mostly prevalent to thalassemia Major and Intermedia patients.
Thalassemia Intermedia patients vary a lot in their treatment needs depending on the severity of their anemia.
Thalassemia Minor
Thalassemia Minor is not always actively treated.
Contrary to popular belief, Thalassemia Minor patients should not avoid iron-rich foods by default. A serum ferritin test can determine what their iron levels are and guide them to further treatment if necessary. Thalassemia Minor, although not life threatening on its own, can affect quality of life due to the effects of a mild to moderate anemia. Studies have shown that Thalassemia Minor often coexists with other diseases such as asthma, and mood disorders.
Further Reading
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