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Characterization of Hb Calvino (HBB: c.406G > A): a new silent β-globin gene variant found in coexistence with α-thalassemia in a family of African origin.
[alpha-thalassemia]
We
report
a
new
silent
β-globin
gene
variant
found
in
a
family
from
Angola
living
in
the
north
eastern
Italian
city
of
Ferrara
.
The
probands
,
two
young
sisters
,
presented
with
hematological
parameters
compatible
with
a
β-thalassemia
(
β-thal
)
minor
but
with
normal
Hb
A
2
levels
and
normal
hemoglobin
(
Hb
)
separation
on
high
performance
liquid
chromatography
(
HPLC
)
.
Molecular
analyses
revealed
a
homozygosity
for
the
common
-
α
(
3
.
7
)
(
rightward
)
deletion
and
heterozygosity
for
a
novel
transition
(
GCT
 
>
 
ACT
)
at
codon
135
of
the
β-globin
gene
,
leading
to
an
Ala
 
→
 
Thr
single
amino
acid
substitution
that
was
inherited
from
the
healthy
father
.
