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Introduction: The aim of this study was to determine the prevalence of β-globin gene cluster deletions in individuals with increased Hb F levels in a Chinese population. Methods: Subjects with HbF levels ≥10% were selected for further investigation. Gap-PCR was used to screen for three common β-globin gene cluster deletions: Chinese (Aγδβ)0-thalassemia, Southeast Asian (SEA) deletion and Hb Lepore. Multiplex ligationdependent probe amplification (MLPA) was used to analyze dosage changes of the β-globin gene cluster for those not associated with one of the three common deletions. Results: One hundred and thirty-one individuals had an increased Hb F level; among these, 51 (38.9%) were showed to have Chinese (Aγδβ)0-thalassemia (n = 37) or SEA deletion (n = 14). A single case of Hb Lepore-Boston-Washington was detected. MLPA only detected 2 deletions in three cases of the remaining 80 patients. Gap-PCR confirmed that they included a 1357 bp β-globin gene deletion (NG_000007.3:g.69997_71353del1357) in one case and a HBG2-HBG1 fusion gene consisting of exons 1 and 2 of HBG2 (Gγ-globin gene) and exon 3 of HBG1 (Aγ-globin gene) (HBG2: c.315 + 573_HBG1: c.315 + 572del) in two cases. Conclusion: The Chinese (Aγδβ)0-thalassemia and SEA deletion are the most common large deletions of β-globin gene cluster in Chinese. Gap-PCR for the detection of these two deletions should be used in thalassemia screening program in China where the incidence of β-thalassemia is high. [ABSTRACT FROM AUTHOR]

Introduction It has long been recognized that the hemoglobin (Hb) Bart's in cord blood is an accurate indicator of α-thalassemia and that the level of Hb Bart's was increased accordingly with the increasing numbers of the defective α-genes. Methods This study used an automatic capillary electrophoresis system to determine the Hb Bart's levels in cord blood. Molecular analyses were used to detect various genotypes of α-thalassemia. Results Sixty-nine of the total 1169 newborns were found to have an increased Hb Bart's in cord blood, in whom the diagnosis of α-thalassemia was confirmed by the DNA analysis. The remaining 1100 newborns had no detectable Hb Bart's at birth; among these, 45 carriers of silent α-thalassemia were diagnosed by DNA analysis. All the 45 cases had only the -α3.7 deletion genotype. Conclusion For newborns of one α-gene mutation, especially for 3.7-kb deletion, the method based on Hb Bart's is inadequate and is therefore not reliable for screening. [ABSTRACT FROM AUTHOR]

The article describes the case of a Chinese woman who was diagnosed positive for thalassemia. Topics discussed include diagnosis through the reverse dot-blot method that revealed 17 kinds of Chinese Beta-thalassemia mutations and 1 heterygous codon mustation, comparison of the thalassemia diagnosis to the diagnosis of her husband, and results showing that gene mutations can disrupt diagnosis of Beta-thalassemia among special ethic groups.

Li DZ, Liao C, Li J, Xie XM, Huang YN, Wu QC. Hemoglobin H hydrops fetalis syndrome resulting from the association of the – –SEA deletion and the αQuong Szeα mutation in a Chinese woman. Eur J Haematol 2005: 75: 259–261. © Blackwell Munksgaard 2005. A case with Hb H hydrops fetalis syndrome resulting from the association of the – –SEA deletion and the αQuong Sze α mutation is reported. This is the first description of Hb H hydrops associated with the Hb Quong Sze mutation. [ABSTRACT FROM AUTHOR]