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Open Access 01-12-2020 | Thalassemia | Original Article

Genetic research and clinical analysis of deletional Chinese ^Gγ⁺(^Aγδβ)⁰ -thalassemia and Southeast Asian HPFH in South China

Authors: Yuanjun Wu, Qianyu Yao, Ming Zhong, Jianying Wu, Longxu Xie, Linnan Su, Fubing Yu

Published in: Annals of Hematology | Issue 12/2020

Abstract

Chinese ^Gγ⁺(^Aγδβ)⁰-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 ^Gγ⁺(^Aγδβ)⁰-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 ^Gγ⁺(^Aγδβ)⁰-thalassemia and SEA-HPFH. The gap polymerase chain reaction was performed to identify the deletions. One hundred cases of Chinese ^Gγ⁺(^Aγδβ)⁰-thalassemia were detected, including 90 cases of Chinese ^Gγ⁺(^Aγδβ)⁰/β^N-thalassemia, 7 cases of Chinese ^Gγ⁺(^Aγδβ)⁰ /β^N-thalassemia combined with α-thalassemia, 2 cases of Chinese ^Gγ⁺(^Aγδβ)⁰-thalassemia combined with β-thalassemia, and 1 case of Chinese ^Gγ⁺(^Aγδβ)⁰-thalassemia combined with β-gene mutation. One hundred nine cases of SEA-HPFH were detected, including 97 cases of SEA-HPFH/β^N, 9 cases of SEA-HPFH/β^N 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 ^Gγ⁺(^Aγδβ)⁰-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.

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Title: Genetic research and clinical analysis of deletional Chinese Gγ+(Aγδβ)0 -thalassemia and Southeast Asian HPFH in South China
Authors: Yuanjun Wu
Qianyu Yao
Ming Zhong
Jianying Wu
Longxu Xie
Linnan Su
Fubing Yu
Publication date: 01-12-2020
Publisher: Springer Berlin Heidelberg
Keyword: Thalassemia
Published in: Annals of Hematology / Issue 12/2020
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI: https://doi.org/10.1007/s00277-020-04252-7

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