Abstract
We present a family of North European extraction referred for a refractory non iron depleted microcytic anemia. The proband, a 36-year-old male, presented with chronic borderline anemia and microcytic hypochromic parameters. No abnormal hemoglobin (Hb) fractions were observed on high performance liquid chromatography (HPLC) or on alkaline electrophoresis. Gap-polymerase chain reaction (gap-PCR) excluded the seven common α-thalassemia (thal) deletion defects. However, the β/α-globin chain synthesis ratio measured in vitro was unbalanced, indicating a reduced expression of the α-globin genes. Direct sequencing of the α-globin genes revealed heterozygosity for a T→A transversion at the IVS-II-2 position of the α2 gene. This is the first IVS-II splice donor site mutation described on the α2-globin gene.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
