Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 32, 2008 - Issue 6
94
Views
3
CrossRef citations to date
0
Altmetric
Original Article

Molecular Prenatal Diagnosis of α-Thalassemia Using Real-Time and Multiplex Polymerase Chain Reaction Methods

, , , , , & show all
Pages 553-560 | Received 10 Oct 2007, Accepted 30 Apr 2008, Published online: 07 Jul 2009
 

Abstract

Molecular analysis of two fetuses at high risk of α-thalassemia (α-thal), and their family members, was performed using real-time polymerase chain reaction (PCR) with SYBR Green 1 (SYBR-PCR) dye combined with dissociation curve analysis and multiplex PCR (m-PCR) and DNA sequencing techniques. The genotype of the fetus from one family was – –SEA/– –SEA (Southeast Asian deletion), which produces hydrops fetalis syndrome. The genotype of the parents was – –SEA/αα. A boy with Hb H disease and his sibling fetus from the other family had the genotype – –SEACSα [the Hb Constant Spring (CS) mutation: α142, Term→Gln (TAA>CAA in α2)] and αα/αα (normal), respectively. The diagnosis, based on SYBR-PCR combined with dissociation curve analysis, was in agreement with the results from the m-PCR method. This indicates that these are alternative and reliable assays for the molecular diagnosis of deletional α-thal.

Log in via your institution

Log in to Taylor & Francis Online

PDF download + Online access

  • 48 hours access to article PDF & online version
  • Article PDF can be downloaded
  • Article PDF can be printed
USD 65.00 Add to cart

Issue Purchase

  • 30 days online access to complete issue
  • Article PDFs can be downloaded
  • Article PDFs can be printed
USD 1,628.00 Add to cart

* Local tax will be added as applicable

Related Research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.