In:
Annals of Hematology, Springer Science and Business Media LLC, Vol. 99, No. 12 ( 2020-12), p. 2747-2753
Abstract:
Chinese G γ + ( A γδβ) 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 G γ + ( A γδβ) 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 G γ + ( A γδβ) 0 -thalassemia and SEA-HPFH. The gap polymerase chain reaction was performed to identify the deletions. One hundred cases of Chinese G γ + ( A γδβ) 0 -thalassemia were detected, including 90 cases of Chinese G γ + ( A γδβ) 0 /β N -thalassemia, 7 cases of Chinese G γ + ( A γδβ) 0 /β N -thalassemia combined with α-thalassemia, 2 cases of Chinese G γ + ( A γδβ) 0 -thalassemia combined with β-thalassemia, and 1 case of Chinese G γ + ( A γδβ) 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 G γ + ( A γδβ) 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.
Type of Medium:
Online Resource
ISSN:
0939-5555
,
1432-0584
DOI:
10.1007/s00277-020-04252-7
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2020
detail.hit.zdb_id:
1458429-3
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