The Genotyping Researching On The Deletional Type Of Gγ(Aγδβ)0-Thalassemia In Guangxi Provice

Objective::To investigate genetypes and clinical feature of Gγ(Aγδβ)0-thalassemia and hereditary persistence of fetal hemoglobin(HPFH) in Guangxi province.Methods:Cases admitted to the First Affiliated Hospital of Guangxi Medical University from December2010to December2012were subjected to this study. All the cases were from different families. Full blood cell counts and hemoglobin analyses by high performance liquid chromatography (HPLC) were performed to the cases. Genotyping were analyzed by reverse dot blot hybridization (RDB) and gap-PCR methods.Results:1. Among34cases with elevated levels of Fetal hemoglobin (Hb F),4cases were identified as Chinese Gγ(Aγδβ)0-thalassemia. They were3adults and1child. All of them came from zhuang ethnic group.2. The haematological examination showed that3cases of the heterozygotes with Chinese Gγ(Aγδβ)0-thalassemia had hemoglobin(Hb) level from94.8to128g/L, while mean corpuscular volume (MCV) were72to79.13fL and mean corpuscular hemoglobin (MCH)23to25.87pg. The case with double heterozygotes for Chinese Gγ(Aγδβ)0-thalassemia and β-thalassemia showed Hb84.7g/L, MCV65.5fL and MCH20.42pg.3. Hemoglobin analysis showed that Chinese Gγ(Aγδβ)0-thalassemia heterozygotes had Hb A22.1%to2.6%and Hb F10%to18%. The Chinese Gγ(Aγδβ)0-thalassemia co-inherited with β-thalassemia had Hb A2for1.27%and Hb F for98.80%.4. Genetic analysis identified that4case were Chinese Gγ(Aγδβ)0-thalassemia heterozygotes, and1of them co-inherited with β-thalassemia condon41-42mutation.5. Heterozygotes of Gγ(Aγδβ)0-thalassemia had no symptoms or mild anemia. The double heterozygote for Chinese Gγ(Aγδβ)0-thalassemia and β-thalassemia had moderate anemia and hepatosplenomegaly.6. There were not evidences for other types of (δβ)0-thalassemia and HPFH.Conclusion:1. Chinese Gγ(Aγδβ)0-thalassemia was first reported in Guangxi area.2. The Chinese Gγ(Aγδβ)0-thalassemia heterozygotes had hematological features of lower MCV and MCH.3. The Chinese Gγ(Aγδβ)0-thalassemia heterozygotes had elevated levels of Hb F, and normal Hb A2value.4. The clinical feature of heterozygotes for Chinese Gγ(Aγδβ)0-thalassemia showed no anemia or mild anemia. The double heterozygote for Chinese Gγ(Aγδβ)0-thalassemia and β-thalassemia had moderate anemia and hepatosplenomegaly.5. Other types of deletional (δβ)0-thalassemia and HPFH have not been found in Guangxi area. 6. This study enriched the research on (δβ)0-thalassemia. It will benefit the genetic counseling, diagnosis and treatment for thalassemia in Guangxi province.