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The Mentzer index, described in 1973 by William C. Mentzer, [1] is the MCV divided by the RBC count. It is said to be helpful in differentiating iron deficiency anemia from beta thalassemia trait.
The beta form of thalassemia is particularly prevalent among the Mediterranean peoples and this geographical association is responsible for its naming: thalassa (θάλασσα) is the Greek word for sea and haima (αἷμα) is the Greek word for blood.
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 ...
There are two approved forms of gene therapy for beta thalassemia. [96] [97] Betibeglogene autotemcel, sold under the brand name Zynteglo, is a gene therapy for the treatment for beta thalassemia which adds a healthy beta-globin gene to the HSCs. [98] It was approved for medical use in the United States in August 2022.
Pitt–Hopkins syndrome; Beta thalassemia is associated with distinctive facial features due to ineffective erythropoiesis. The ineffective erythropoiesis causes marrow hyperplasia or expansion and bony changes, including the bones of the face; this causes craniofacial protrusions.
Normal levels range from 2.1-3.2%, but in the beta-thalassemia disorder, the levels increase to 3.5-6.0%. Additionally, individuals with beta-thalassemia exhibit a high red cell count and low hemoglobin levels. [3] Individuals that express lower levels of hemoglobin A2, have the a 0-thalassemia trait or homozygous gene for a +-thalassemia. [2]
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]