Search results
Results from the WOW.Com Content Network
Beta-thalassemia is a genetic disease mostly caused by beta-globin gene mutations. [18] Clinical diagnosis is based on interpretation of the peripheral blood smear, which examines red blood cell morphology, followed by hemoglobin analysis and confirmed by DNA sequencing.
Untreated thalassemia major eventually leads to death, usually by heart failure; therefore, prenatal screening is very important. [9] Those with beta thalassemia intermedia (those who are compound heterozygotes for the beta thalassemia mutation) usually present later in life with mild to moderate symptoms of anemia. [8]
Hemoglobin E/ beta thalassemia: common in Cambodia, Thailand, and parts of India, it is clinically similar to β thalassemia major or β thalassemia intermedia. [34] Hemoglobin S/ beta thalassemia: common in African and Mediterranean populations, it is clinically similar to sickle-cell anemia. [35] Delta-beta thalassemia is a rare form of ...
Beta-thalassemia: D56.1: 3087: Beta-thalassemia (β-thalassemia) is an autosomal dominant blood condition that results in the reduction of hemoglobin production. The cause for the disorder is related to a genetic mutation of the HBB gene. This gene is responsible for providing the instructions to produce beta-globin; one of the major components ...
Hemoglobin E/β-thalassemia is a severe disease, and it still has no universal cure. However, the mutation is amenable to genome editing at high efficiency in preclinical studies. [ 6 ] It affects more than a million people in the world. [ 7 ]
TDTs include beta-thalassemia major, hemoglobin H disease, and severe HbE/beta-thalassemia. NTDT does not need regular transfusions but may require transfusion in case of an anemia crisis. [9] Complications of transfusion include iron overload with resulting heart or liver disease. [1]
About 10% of the population has an HbF level >1.0%. [1] HPFH may alleviate the severity of certain hemoglobinopathies and thalassemias, and is selected for in populations with a high prevalence of these conditions (which in turn are often selected for in areas where malaria is endemic). Thus, it has been found to affect people of African and ...
Anisopoikilocytosis is a medical condition illustrated by a variance in size (anisocytosis) and shape (poikilocytosis) of a red blood cell.The underlying cause can be attributed to various anemias, most often; beta thalassemia major, a form of microcytic anemia. [1]