Prenatal diagnosis of Hb H disease due to compound heterozygosity for South-east Asian deletion and Hb constant spring by polymerase chain reaction

T. M. Ko, L. H. Tseng, F. J. Hsieh, T. Y. Lee

Research output: Contribution to journalArticlepeer-review

Abstract

A pregnant woman has two children affected by moderately severe Hb H disease due to compound heterozygosity of South-east Asian deletion and Constant Spring mutation. In her third pregnancy, transabdominal chorionic villus sampling was performed at the tenth gestational week to obtain fetal DNA. The polymerase chain reaction was used for detection of both the South-east Asian deletion and the Constant Spring mutation. Hb H disease was diagnosed in the fetus. After genetic counselling, the couple elected to have the pregnancy terminated.

Original languageEnglish (US)
Pages (from-to)143-146
Number of pages4
JournalPrenatal Diagnosis
Volume13
Issue number2
StatePublished - 1993
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynecology

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