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Aug 28, 2023 · In classical beta thalassemia major (B0 homozygotes), the hemoglobin analysis shows to be absent, and HbF constitutes 92 to 95% of the total hemoglobin. In major forms resulting from double heterozygosity of B0/B+, the HbA levels are between 10 and 30%, and HbF comprises 70 and 90% of total hemoglobin.
- Beta Thalassemia
Beta-thalassemia refers to an inherited mutation of the...
- HAEMOGLOBIN PATTERN ANALYSIS
Results and interpretation: The expected normal range for...
- Beta Thalassemia
May 1, 2023 · Beta-thalassemia refers to an inherited mutation of the beta-globin gene, causing a reduced beta-globin chain of hemoglobin. The highest prevalence of beta-thalassemia mutations is in people of Mediterranean, Middle Eastern, and Asian descent.
Results and interpretation: The expected normal range for HbA 2 is between 1.7% and 3.2% in normal subjects, while in β-thalassaemia carriers when it is between 4.0% and 7%. HbA 2 values are considered borderline when between 3.2% and 3.8%. Samples with these levels need further investigation for possible normal HbA 2 thalassaemia (see Table 1.1 ).
Jan 10, 2020 · β-Thalassemia and HbE, each, is a syndrome resulted from quantitative and qualitative defects of β-globin chain, respectively. In addition to history retrieve and physical examination, diagnosis of these disorders requires laboratory information.
Apr 5, 2024 · This topic review discusses the clinical manifestations and diagnosis of alpha and beta thalassemia, the two most common forms. Thalassemias involving delta, gamma, epsilon, and zeta chains are rare and are usually not associated with significant disease outside of the neonatal period.
In the classical form of β-thalassemia major (homozygotes β°), at hemoglobin analysis, HbA is absent and HbF represents the 92–95% of the total hemoglobin. In thalassemia major forms due to double heterozygosity of β°/β+, the HbA levels can be variable between 10 and 30% and HbF between 70 and 90%.
Only DNA analysis can be made for specific thalassemia mutation diagnosis. Various molecular techniques have been used for point mutation detection in β-thalassemia and large-deletion detection in α-thalassemia. All of these techniques have some advantages and disadvantages.
