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Genetic research and clinical analysis of deletional Chinese Gγ+(Aγδβ)0 -thalassemia and Southeast Asian HPFH in South China.
- Source :
- Annals of Hematology; Dec2020, Vol. 99 Issue 12, p2747-2753, 7p
- Publication Year :
- 2020
-
Abstract
- Chinese <superscript>G</superscript>γ<superscript>+</superscript>(<superscript>A</superscript>γδβ)<superscript>0</superscript>-thalassemia and SEA-HPFH are the most common types of β-globin gene cluster deletion in Chinese population. The aim of the study was to analyze clinical features of deletional Chinese <superscript>G</superscript>γ<superscript>+</superscript>(<superscript>A</superscript>γδβ)<superscript>0</superscript>-thalassemia and Southeast Asian hereditary persistence of fetal hemoglobin (SEA-HPFH) in South China. A total of 930 subjects with fetal hemoglobin (HbF) level ≥ 2% were selected on genetic research of Chinese <superscript>G</superscript>γ<superscript>+</superscript>(<superscript>A</superscript>γδβ)<superscript>0</superscript>-thalassemia and SEA-HPFH. The gap polymerase chain reaction was performed to identify the deletions. One hundred cases of Chinese <superscript>G</superscript>γ<superscript>+</superscript>(<superscript>A</superscript>γδβ)<superscript>0</superscript>-thalassemia were detected, including 90 cases of Chinese <superscript>G</superscript>γ<superscript>+</superscript>(<superscript>A</superscript>γδβ)<superscript>0</superscript>/β<superscript>N</superscript>-thalassemia, 7 cases of Chinese <superscript>G</superscript>γ<superscript>+</superscript>(<superscript>A</superscript>γδβ)<superscript>0</superscript> /β<superscript>N</superscript>-thalassemia combined with α-thalassemia, 2 cases of Chinese <superscript>G</superscript>γ<superscript>+</superscript>(<superscript>A</superscript>γδβ)<superscript>0</superscript>-thalassemia combined with β-thalassemia, and 1 case of Chinese <superscript>G</superscript>γ<superscript>+</superscript>(<superscript>A</superscript>γδβ)<superscript>0</superscript>-thalassemia combined with β-gene mutation. One hundred nine cases of SEA-HPFH were detected, including 97 cases of SEA-HPFH/β<superscript>N</superscript>, 9 cases of SEA-HPFH/β<superscript>N</superscript> combined with α-thalassemia, 2 cases of SEA-HPFH combined with β-thalassemia, and 1 case of SEA-HPFH combined with β-gene mutation. Statistical analysis indicates significant differences in MCV (mean corpuscular volume), MCH (mean corpuscular hemoglobin), and HbA2 and HbF levels between Chinese <superscript>G</superscript>γ<superscript>+</superscript>(<superscript>A</superscript>γδβ)<superscript>0</superscript>-thalassemia heterozygotes and SEA-HPFH heterozygotes (P < 0.001). There are statistical differences in hematological parameters between them. Clinical phenotypic analysis can provide guidance for genetic counseling and prenatal diagnosis. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 09395555
- Volume :
- 99
- Issue :
- 12
- Database :
- Complementary Index
- Journal :
- Annals of Hematology
- Publication Type :
- Academic Journal
- Accession number :
- 147156491
- Full Text :
- https://doi.org/10.1007/s00277-020-04252-7