Thalassemia meaning

Recent Examples on the Web Though, as of the 29th of March, several beta thalassemia patients have entered the apheresis process (extraction of cells for modification via gene therapy). — Joshua Cohen, Forbes, 3 May 2023 His previous firm, Imara, recently merged with Enliven Therapeutics, of Boulder, Colo., after Imara’s leading drug candidate yielded negative results in studies for treatment of two rare blood disorders, sickle cell disease and beta thalassemia. — Jonathan Saltzman, BostonGlobe.com, 15 Mar. 2023 Those with beta thalassemia don’t have enough normal hemoglobin, and suffer anemia, fatigue, shortness of breath and other symptoms. — NBC News, 7 Dec. 2020 Panteha Abareshi, an artist whose work is rooted in their experience with sickle cell zero beta thalassemia, a genetic blood disorder that causes increasing, debilitating pain and bodily deterioration, is perhaps better equipped than most to guide this discussion. — Caroline Ellen Liou, Los Angeles Times, 1 Mar. 2023 Read full article Founded in 2007 by researchers from the Broad Institute of Harvard and MIT, Forma has developed a daily oral drug to treat sickle cell disease and another rare blood disorder called thalassemia. — Jonathan Saltzman, BostonGlobe.com, 1 Sep. 2022 The first team to achieve a genetic rewrite of sickle cell and of thalassemia, a related blood disorder, will hit the jackpot. — Jeff Wheelwright, Discover Magazine, 2 May 2016 Vertex’s pipeline also includes promising therapies targeting r...

Thomas Barwick / Creative RM / Getty Images Common Thalassemia Complications Learning that you are at risk for serious medical complications due to your thalassemia may feel alarming. Know that maintaining regular medical care is key to screening for these complications and initiating early treatment. Red blood cell (RBC) production occurs primarily in the bone marrow. In the case of thalassemia, this RBC production is ineffective. One way the body attempts to improve production is by expanding the available space in the bone marrow. This most notably occurs in the bones of the skull and face. People can develop what is called "thalassemic facies"—chipmunk-like cheeks and a prominent forehead. Early initiation of chronic transfusion therapy can prevent this from occurring. Osteopenia (weak bones) and osteoporosis (thin and brittle bones) can occur in adolescents and young adults. It is not understood why these changes occur in thalassemia. The osteoporosis may be severe enough to cause fractures, particularly vertebral fractures. Transfusion therapy does not appear to prevent this complication. The spleen is capable of producing red blood cells (RBC); it generally loses this function around the fifth month of pregnancy. In thalassemia, the ineffective RBC production in the bone marrow can trigger the spleen to resume production. In an attempt to do this, the spleen grows in size (splenomegaly). The excessive iron overload in thalassemia can result in iron being deposited i...

Images show thalassemia peripheral blood smears with hypochromic, microcytic red blood cells and poikilocytosis.From MLS Collection, University of Alberta. Image 1:50x oil immersion. https://doi.org/10.7939/R3DR2PQ4J Image 2:50x oil immersion. https://doi.org/10.7939/R3V698T05 Image 3:50x oil immersion. https://doi.org/10.7939/R3HD7P773 Thalassemias are classified as a group of genetic hemoglobin disorders where the production of α and β globin chains is affected. This is considered to be a quantitative hemoglobin disorder and is categorized by the affected globin chain (alpha or beta), and as major or minor depending on the severity of the disease. 1,2 Alpha-Thalassemia: Cause(s): α globin chain genes are located on chromosome 16 and there are normally four genes in total (αα/αα), two inherited from each parent. α-thalassemia results when there is a deletion in any number of the α globin gene. The severity of anemia and amount of α globin chain production is dependent the number of genes that are deleted. 3 α-Thalassemia Silent Carrier (αα/α-): 1,2 Occurs when one α gene is deleted. There is still adequate production of α to ensure normal hemoglobin synthesis. Patient is asymptomatic and the mutation is benign. In newborns, there is an excess production of γ globin chains. These γ globin chains tend to also form tetramers and result in Hemoglobin Barts (Hb Barts). Hb Barts has a high oxygen affinity and is inefficient for oxygen delivery to the tissues of the developing f...

Thalassemia is a genetic disease characterized by low production of hemoglobin and red blood cells in the body. In this condition, the body is not able to produce sufficient red blood cells as compared to the destruction. This results in a deficiency of hemoglobin in our body. Hemoglobin is responsible for carrying oxygen from the lungs to different parts of the body. This thereby results in anemia in the body. 2 Thalassemia occurs due to the inheritance of defective genes from one or both parents or by mutation of genes. The parent can be a carrier or a patient of the disease. It depends on the number of defective genes inherited from the parents. Thalassemia carrier is an individual who has one mutated gene that codes information for the normal production of red blood cells. A thalassemia patient has two or more defective genes. The thalassemia carrier is also known as thalassemia trait or thalassemia minor that has no direct impact on the health. If both the parents are thalassemia carrier, then there is a possibility that the child born to them will have severe thalassemia. 3 The thalassemia carrier does not have the symptoms of the disease. They live a normal life without any physical or mental affection. They do not require any special diet or medical treatment. The carriers do not develop the disease over time. Most of them do not know that they are carriers of thalassemia until they are tested accidentally. In rare cases, the carrier may develop mild anemia that is...