Molecular characteristics of three hemoglobin variants observed in a Chinese population: Hb Ube-1 [β98 (FG5) Val→Met], Hb Ube‑2 [α68 (E17) Asn→Asp] and Hb Ube‑4 [α116 (GH4) Glu→Ala]

Mol Med Rep. 2011 Jul-Aug;4(4):681-5. doi: 10.3892/mmr.2011.477. Epub 2011 Apr 26.

Abstract

In this study we report three cases of Hb Ube-1, one case of Hb Ube-2 and one case of Hb Ube-4 in mainland China. One case of Hb Ube-1 had the clinical manifestation of hemolytic anemia. Hb Ube-2 and Hb Ube-4 did not appear to be associated with clinical or hematological abnormalities. The variants were detected by Hb electrophoresis during a thalassemia screening. Genomic DNA was extracted from the peripheral blood leukocytes of Hb specimens. α1, α2 and β-globin genes were amplified by polymerase chain reaction (PCR). All variants were confirmed by DNA sequence analysis and the PCR-restriction fragment length polymorphism assay.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People / genetics*
  • China
  • Female
  • Genetic Variation
  • Genome, Human
  • Hemoglobins / genetics*
  • Hemoglobins, Abnormal / genetics
  • Humans
  • Leukocytes / immunology
  • Leukocytes / metabolism
  • Male
  • Polymorphism, Restriction Fragment Length
  • Sequence Analysis, DNA
  • Young Adult

Substances

  • Hemoglobins
  • Hemoglobins, Abnormal
  • hemoglobin UBE-2