F. Harada et al., ANTI-ZETA ANTIBODY SCREENING FOR ALPHA-THALASSEMIA USING DRIED FILTER-PAPER BLOOD, Biochemical medicine and metabolic biology, 51(1), 1994, pp. 80-84
The most common alpha-thalassemia in Southeast Asian or Southern Chine
se populations is the (- -(SEA)) double alpha-globin deletion. Couples
heterozygous for (- - SEA) have 25% risk for hydrops fetalis from los
s of all four alpha-globin genes. The (- -(SEA)) deletion spares the e
mbryonic zeta-globin genes and causes traces of zeta-peptide to persis
t throughout life. A colorimetric monoclonal anti-zeta antibody test f
or raised zeta-peptide has detected the (- -(SEA)) deletion in liquid
blood samples, but not deletions of the entire alpha-globin region wit
h loss of the zeta-globin genes. Eluates from dried blood spots had th
e same anti-zeta antibody color reaction as whole blood, even after st
orage at 4 degrees C for up to 77 days. The anti-zeta antibody test wa
s positive in 24 of 91 microcytic samples (mean corpuscular hemoglobin
<24 pg), including four with iron deficiency; it was negative in 26 p
rovisionally diagnosed alpha-thalassemia l heterozygotes and all 32 no
nmicrocytic samples. Southern blot analysis and a specific SEA-polymer
ase chain reaction test confirmed that 18 anti-zeta antibody-positive
samples and 1 anti-zeta antibody-negative sample had the (- -(SEA)) de
letion. Two anti-zeta antibody-negative microcytic samples had the (-
-(Fil)) total alpha-globin region deletion, 2 had single alpha-gene de
letions, 22 others may also have had a total alpha-region deletion. He
nce specificity was very high and sensitivity was 95%. The anti-zeta a
ntibody test can detect the (- -(SEA)) deletion in dried blood samples
, even after prolonged storage. This simple inexpensive test can conve
niently screen samples collected at a distance from a central laborato
ry. (C) 1994 Academic Press, Inc.