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Alpha-thalassemia (α-thalassemia, α-thalassaemia) is an inherited blood disorder and a form of thalassemia. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin , the molecule that carries oxygen in the blood. [ 4 ]
Severity of alpha thalassemia # of faulty alleles Types of alpha thalassemia [49] [50] Symptoms 1 Silent carrier No symptoms 2 Alpha thalassemia trait Minor anemia 3 Hemoglobin H disease Mild to moderate anemia; may lead normal life 4 Hemoglobin Bart’s hydrops fetalis Death usually occurs in utero or at birth
If hemoglobin Barts is detected on a newborn screen, the patient is usually referred for further evaluation since detection of hemoglobin Barts can indicate either one alpha globin gene deletion, making the baby a silent alpha thalassemia carrier, two alpha globin gene deletions (alpha thalassemia), or hemoglobin H disease (three alpha globin ...
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.
Hemoglobin H disease, also called alpha-thalassemia intermedia, is a disease affecting hemoglobin, the oxygen carrying molecule within red blood cells. It is a form of Alpha-thalassemia which most commonly occurs due to deletion of 3 out of 4 of the α-globin genes. [1]
Thalassemia subtypes of clinical significance are alpha thalassemia and beta thalassemia. A third subtype, delta thalassemia, affects production of HBA2 and is generally asymptomatic. [26] The severity of alpha thalassemia depends on how many of the four genes that code for alpha globin are faulty.
The human alpha globin gene cluster is located on chromosome 16 and spans about 30 kb, including seven alpha like globin genes and pseudogenes: 5'- HBZ - HBZP1 - HBM - HBAP1 - HBA2 - HBA1 - HBQ1-3'. The HBA2 (α 2) and HBA1 (α 1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but ...
Alpha Gene Arrangement Functioning α-genes Inheritance Hgb G, % Clinical Presentation uncomplicated G trait, no thalassemia: αG α/α α: 4: Mediterranean: 20-25: No defect alpha thal 2 with trans G trait: α -/αG – or – α/αG – 2: Mediterranean: 35-45: Microcytic alpha thal 2 trait, G trait: α3.7G/α α: 3: African American: 25-35 ...
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