[Diagnosis and prenatal diagnosis to a family of hemoglobin variant with α-thalassemia]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32(2):226-8. doi: 10.3760/cma.j.issn.1003-9406.2015.02.016.
[Article in Chinese]

Abstract

Objective: Diagnosis and prenatal diagnosis to a family of hemoglobin variant with α-thalassemia.

Methods: Whole blood cell analysis, hemoglobin analysis by capillary zone electrophoresis (CZE), Gap-PCR, polymerase chain reaction-reverse dot blot (PCR-RDB) assay and DNA sequencing.

Results: Hb Zurich Albisrieden with α°-thalassemia lead to severe anemia. The genotype of fetus is also Hb Zurich Albisrieden with α°-thalassemia.

Conclusion: Abnormal hemoglobin with α-thalassemia may lead to severe anemia, Prenatal diagnosis of thalassemia has the vital significance for eugenic birth.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Child, Preschool
  • Female
  • Fetal Diseases / blood
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Hemoglobins, Abnormal / metabolism
  • Humans
  • Male
  • Molecular Sequence Data
  • Pregnancy
  • Prenatal Diagnosis
  • Young Adult
  • alpha-Thalassemia / blood
  • alpha-Thalassemia / diagnosis
  • alpha-Thalassemia / embryology
  • alpha-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Zurich Albisrieden