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Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation and patients usually have microcytosis with borderline hypochromic anemia and they are usually asymptomatic or have mild symptoms. [8] Beta thalassemia minor can also present as beta thalassemia silent carriers; those ...
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/ 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 ...
People with thalassemia traits (thalassemia minor or non transfusion dependent thalassemia), may not require medical or follow-up care after the initial diagnosis is made. [72] Occasionally transfusions may be necessary particularly around childbirth, surgery, or if other conditions provoke anemia.
Thalassemia is an inherited condition that has variants in alpha or beta globin genes that result in lower levels of globin chains required to make hemoglobin, resulting in alpha thalassemia or beta thalassemia, respectively. [3] Diagnosis is made by DNA analysis for alpha thalassemia and hemoglobin analysis for beta thalassemia. [3] Management ...
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 US Food and Drug Administration has approved a second use for the first CRISPR-based medicine, Casgevy, which was approved in December to treat sickle cell disease.
Diagnosis of transfusion dependent anemia is challenging because this anemia is caused by multiple diseases. [12] Therefore, other than diagnosing anemias that require transfusion, diagnosis for the two main causes (beta-thalassemia and myelodysplastic syndromes) of transfusion dependent anemia is also important. [citation needed]
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