The alpha-globin and beta-globin genes of the zebrafish are tightly linked on the same chromosome in a 3'-5' and 5'-3' configuration, respectively. Although the location of the controlling sequences has been mapped to the intergenic region, analysis determining the uniqueness of this unusual arrangement to zebrafish has not been undertaken. To explore this, we isolated, sequenced, and phylogenetically analyzed the intergenic region between globin gene families of seven Cyprinindae species including zebrafish. These species were grouped into an in group (immediate relatives, not so distant relatives), and an out group (distant relative). Cellulose acetate electrophoresis of hemoglobin (Hb) detected multiple variants in each species, but a band with electrophoretic mobility (EM) of 6.7 x 10(-5) cm(2).volt(-1).sec(-1) was shared between species. Polymerase chain reaction (PCR) amplification of the intergenic globin gene region also detected a 1.0-kb fragment that was repeated in the in group and a 1.2-kb fragment in the out group. Sequence comparison confirmed that the genetic orientation and controlling sequences location were conserved throughout this region in all seven species. This phylogenic footprinting indicated that the configuration was not exclusive to zebrafish. To confirm sequence alignment, maximum parsimony phylogenic analysis, was performed. Only one member of that group the giant danio, was not closely clustered, being located almost equidistance between the immediate relative and the species of the other clusters. This may represent an ancestral configuration prior to transposition of the alpha globin and beta-globin genes families to nonsynteny.
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http://dx.doi.org/10.1089/104454904323090958 | DOI Listing |
Hematology
December 2025
Division of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, and King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok, Thailand.
Background: Hemoglobin (Hb) Hekinan is a prevalent α-globin variant frequently missed in thalassemia screening centers using high-performance liquid chromatography (HPLC) or capillary electrophoresis. This study aims to investigate the hematological and molecular characteristics of Hb Hekinan in a large cohort.
Methods: Hb variants were identified using isoelectric focusing (IEF) and HPLC.
Diagnosis (Berl)
January 2025
Faculty of Associated Medical Sciences, Centre for Research and Development of Medical Diagnostic Laboratories, Khon Kaen University, Khon Kaen, Thailand.
Objectives: This study reported a large cohort of fetal blood analysis of various hemoglobinopathies.
Methods: A total of 371 fetal blood specimens were recruited. Complete blood count and hemoglobin (Hb) analysis using capillary electrophoresis were performed.
Genes (Basel)
December 2024
Laboratory of Medical Genetics, Clinical Pathology UOC, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Unlabelled: Thalassemias and hemoglobinopathies are among the most common genetic diseases worldwide and have a significant impact on public health. The decreasing cost of next-generation sequencing (NGS) has quickly enabled the development of new assays that allow for the simultaneous analysis of small nucleotide variants (SNVs) and copy number variants (CNVs) as deletions/duplications of α- and β-globin genes.
Background/objectives: This study highlighted the efficacy and rapid identification of all types of mutations in the α- and β-globin genes, including silent variants, using the Devyser Thalassemia NGS kit.
Clin Chim Acta
January 2025
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Centre for Obstetric & Gynecologic Disease, Beijing 100730 China. Electronic address:
Thalassemia is an inherited blood disorder and traditionally considered more prevalent in Southern China. However, with increased migration and intermarriage, more and more thalassemia carriers had been reported in Northern China. The lack of screening for thalassemia carriers may also result in missed diagnosis in Northern China.
View Article and Find Full Text PDFBackground: This study aimed to evaluate the efficacy of third-generation sequencing (TGS) and a thalassemia (Thal) gene diagnostic kit in identifying Thal gene mutations.
Methods: Blood samples (n = 119) with positive hematology screening results were tested using polymerase chain reaction (PCR)-based methods and TGS on the PacBio-Sequel-II-platform, respectively.
Results: Out of the 119 cases, 106 cases showed fully consistent results between the two methods, with TGS identified HBA1/2 and HBB gene mutations in 82 individuals.
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