Background and aims: Thalassemia is one of the most common hereditary disorders. This study aimed to investigate the prevalence of thalassemia and the mutation spectrum in Chongqing, the southern area of China.
Methods: A total of 1057 children were recruited from Chongqing. Hematological parameters were examined and globin genes were genetically analyzed.
Results: The total frequency of thalassemia carriers was 7.76% in this group of children. Among these, α-thalassemia was 5.20%, β-thalassemia was 1.99% and abnormal hemoglobin variant was 0.57%. Furthermore, 24 cases of α-triplication were detected, frequency of which was 2.55%. The true prevalence of silent α-thalassemia was first reported in this study. In addition, six novel mutations that give rise to α-thalassemia and two rare abnormal hemoglobin variants were first identified in Chinese population.
Conclusions: Our data suggested that the population in Chongqing are at high risk of α- and β-thalassemia. The findings will be useful for genetic counseling and the prevention of severe thalassemias in this area.
Keywords: CD; DNA; EDTA; Gap polymerase chain reaction; Gap-PCR; Globin gene; Hb; Hb A(2); Hb F; Hemoglobin A(2); Hemoglobin F; IVS; MCH; MCV; Messenger Ribonucleic Acid; Microliter; Milliliter; Mutation; PCR; Polymerase chain reaction; Prevalence; Quantitative real-time PCR; RBC; RDB; RDW; RT-PCR; Red blood cell count; Red cell distribution width; Reverse dot blot; Revolutions per minute; Thalassemia; UTR; Variants; base pair; bp; codon; deoxyribonucleic acid; ethylenediamine tetraacetic acid; hemoglobin; intervening sequences; mM; mRNA; mean cell hemoglobin; mean corpuscular hemoglobin concentration; millimolar per liter; ml; pH; power of hydrogen; rpm; untranslated region; μl.
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