Correlation Engine 2.0
Clear Search sequence regions

  • alpha thalassemia (1)
  • anemia (3)
  • conjunct (1)
  • diagnosis (2)
  • father (1)
  • female (1)
  • globin (2)
  • HBA2 (6)
  • humans (1)
  • mother (1)
  • patients (3)
  • pregnancy (1)
  • proband (1)
  • start codon (1)
  • thalassemia (3)
  • Sizes of these terms reflect their relevance to your search.

    The explore the genetic basis for a patient with microcytic hypochromic anemia and iron deficiency anemia. Common deletions and variants of the globin genes were detected by Gap-PCR and next generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing. Gap-PCR and NGS showed that the proband has carried a αα/-α 3.7 deletion and a heterozygous c.2T>A (p.Met1Lys) mutation in the initiation codon of the HBA2 gene. The patient and her father both carried α HBA2 c.2T>A(p.Met1Lys) α/-α 3.7, while her mother and other family members were -α3.7/-α3.7 and αα/-α 3.7, respectively. Patients with α HBA2 c.2T>A(p.Met1Lys) α/-α 3.7 genotype have typical features of thalassemia and abnormal hematologic indices compared with those with αα/-α3.7 genotype, suggesting that the HBA2 c.2T>A (p.Met1Lys) is a pathogenic variant. Above finding has enriched the spectrum of α-thalassemia mutations and enabled genetic counseling and prenatal diagnosis for the family.


    Yang Chen, Jie Wang, Chan Wang, Shiping Chen, Nyu Feng, Haifang Liu, Xiaoyan Tang, Shufang Zhang. A case with α-thalassemia caused by novel start codon variant in conjunct with right deletion variant of α2-globin gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2021 Jan 10;38(1):12-14

    Expand section icon Mesh Tags

    Expand section icon Substances

    PMID: 33423249

    View Full Text