Multiplex ligation‐dependent probe amplification screening of isolated increased HbF levels revealed three cases of novel rearrangements/deletions in the β‐globin gene cluster

• Published in: British journal of haematology Vol. 148; no. 1; pp. 154 - 160
• Main Authors: Lee, Seung‐Tae, Yoo, Eun‐Hyung, Kim, Ji‐Youn, Kim, Jong‐Won, Ki, Chang‐Seok
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.01.2010; Blackwell
• Subjects: Aged; Base Sequence; beta-Globins - genetics; beta-Thalassemia - genetics; Biological and medical sciences; DNA Probes; Female; Fetal Hemoglobin - analysis; Fetal Hemoglobin - genetics; fusion gene; Gene Deletion; haemoglobin F; Hematologic and hematopoietic diseases; Hemoglobinopathies - genetics; hereditary persistence of fetal haemoglobin; Humans; Medical sciences; Middle Aged; Multigene Family; Polymerase Chain Reaction - methods; Gene cluster; haemoglobin F; Hematology; hereditary persistence of fetal haemoglobin; Beta-Peptide chain; Medical screening; Hereditary; Fetal hemoglobin; Persistence; Multiplex ligation dependent probe amplification; fusion gene; Gene rearrangement; Deletion; Fetus; Beta globin; Hybrid gene

Summary Investigations of naturally occurring mutations, such as the deletional thalassaemias and hereditary persistence of fetal haemoglobins (HPFHs), have brought many insights into human globin switching, but limited data have been reported so far. We selected 15 individuals with elevated fetal h...