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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]
Alpha thalassemia major is generally fatal to the unborn child, as zero functional hemoglobin is produced during gestation. Less severe alpha thalassemia may affect growth and development. [18] Beta thalassemia symptoms typically begin to show during the first six months of life, as the body winds down production of fetal hemoglobin HbF.
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]
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 ...
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.
In beta-thalassemia major, hemoglobin A is decreased (or in some cases absent) and hemoglobin F is markedly elevated; A2 levels are variable. [ 3 ] : 461–2 In hemoglobin H disease , a form of alpha-thalassemia , an abnormal band of hemoglobin H can be detected, and sometimes a band of Hemoglobin Barts ; but in the milder alpha-thalassemia ...
Delta-beta thalassemia can mask the diagnosis of beta thalassemia trait. In beta thalassemia, an increase in hemoglobin A2 results, but the co-existence of a delta-beta thalassemia mutation will decrease the value of the hemoglobin A2 into the normal range, thereby obscuring the diagnosis of beta thalassemia trait [10]
Alpha-thalassemia (α-thalassemia) is defined by a lack of α-globin chain production in hemoglobin, and those who carry a mutation impacting the α-globin chain on only one chromosome are considered to have a “silent” α-thalassemia whereas, if the mutation is on both then it is considered an α-thalassemia trait. [9] α-thalassemia is ...
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