Click for new scientific resources and news about Corona[COVID-19]

Paper Information

Title: 

FIRST REPORT OF MUTATION IN Δ-GLOBIN GENE IN AN IRANIAN FAMILY

Type: PAPER
Author(s): ERAM S.M.*,AZIMIFAR B.,ABOU ALGHASEMI HASAN,FOULADI P.,LOTFI V.,MANSOURI MARYAM,HOSSEINI MASOUMEH,ABD ALHOSSEINI A.,ZEYNALI SIROUS*
 
 *DEPARTMENT OF BIOTECHNOLOGY, PASTEUR INSTITUTE, TEHRAN, IRAN
 
Name of Seminar: NATIONAL CONGRESS OF BIOTECHNOLOGY OF IRAN
Type of Seminar:  CONGRESS
Sponsor:  IRANIAN BIOTECHNOLOGY ASSOCIATION
Date:  2005Volume 4
 
 
Abstract: 

b-thalassemia with normal HbA2 and decreased MCV and MCH levels is a relatively rare form of b-thalassemia trait. Here, we describe a family with normal HbA2 and decreased levels of MCV and MCH. ARMS-PCR revealed IVSII-1 mutation in the b-globin gene in proband and her father. Direct sequencing of the delta-globin gene revealed a previously reported mutation called Troodos in the proband and her father (in cis with b-globin gene mutation).
This is the first report of co-incidence of HbA2 Troodos and βIVSII-1 mutation. Coincidence of
b and δ-globin gene mutation can cause problems in genetic counseling and prenatal diagnosis, due to masking the effect of b-globin gene mutation.  

 
Keyword(s): DELTA, THALASSEMIA, TROODOS MUTATION, NORMAL HBA2

 
Yearly Visit 42   pdf-file tarjomyar
 
Latest on Blog
Enter SID Blog