IS CELLULOSE-ACETATE ELECTROPHORESIS A SUITABLE TECHNIQUE FOR DETECTION OF HB BARTS AT BIRTH

Citation
S. Desai et al., IS CELLULOSE-ACETATE ELECTROPHORESIS A SUITABLE TECHNIQUE FOR DETECTION OF HB BARTS AT BIRTH, Human heredity, 47(4), 1997, pp. 181-184
Citations number
13
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00015652
Volume
47
Issue
4
Year of publication
1997
Pages
181 - 184
Database
ISI
SICI code
0001-5652(1997)47:4<181:ICEAST>2.0.ZU;2-0
Abstract
Symptomatic alpha-thalassemia (alpha-thal) as found in South-East Asia is uncommon in India. However, the presence of Hb Bart's in cord bloo d samples has been reported from different parts of India and the prev alence of alpha-thal has ranged from 0.5 to 18% by different electroph oretic techniques. The methodology utilised has ranged from paper elec trophoresis to isoelectric focusing (IEF). We screened 798 cord bloods for the presence of Hb Bart's by cellulose acetate electrophoresis an d found a prevalence rate of alpha-thal of 15.3% in a heterogenous pop ulation in Bombay. A comparison of four different electrophoretic tech niques for detection of Hb Bart's in 138 neonates showed that cellulos e acetate and starch gel electrophoresis were by and large comparable and only a little less sensitive than IEF. Paper electrophoresis used at many centers in India was most insensitive. As cr-genotyping is not possible at most centers in the country, it is suggested that a simpl e cellulose acetate electrophoresis would be the method of choice for screening neonates for alpha-thal in India. As a part of our follow-up study, alpha-genotyping was done by Southern blot hybridization in 24 cases who had shown variable levels of Hb Bart's at birth. The rightw ard deletion (-alpha(3.7)/) either in a heterozygous or homozygous con dition was the only gene defect encountered in this preliminary study. However, 7 of 24 cases (29.17%) showed no correlation between Hb Bart 's level and alpha-genotypes.