Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Interaction of hemoglobin Grey Lynn (Vientiane) with a non-deletional α(+)-thalassemia in an adult Thai proband.
[alpha-thalassemia]
Hemoglobin
(
Hb
)
Grey
Lynn
is
a
Hb
variant
caused
by
a
substitution
of
Phe
for
Leu
at
position
91
of
α
1
-
globin
chain
,
originally
described
in
individual
of
unknown
ethnic
background
.
This
article
addresses
the
interaction
of
Hb
Grey
Lynn
with
a
non-deletional
α
(
+
)
-
thalassemia
found
in
Thailand
,
a
hitherto
un-described
condition
.
The
proband
was
adult
Thai
woman
referred
for
investigation
of
mild
anemia
with
Hb
90
g
/
L
.
Hb
analyses
using
low
pressure
liquid
chromatography
raised
a
suspicion
of
abnormal
Hb
presence
,
which
was
failed
to
demonstrate
by
cellulose
acetate
electrophoresis
and
capillary
electrophoresis
.
DNA
sequencing
identified
a
CTT
(
Leu
)
to
TTT
(
Phe
)
mutation
at
codon
91
corresponding
to
the
Hb
Grey
Lynn
(
Vientiane
)
[
α
91
(
FG
3
)
Leu
>
Phe
(
α
1
)
on
α
1
-
globin
gene
and
a
C
deletion
between
codons
36
and
37
on
α
2
-
globin
gene
causing
α
(
+
)
-
thalassemia
.
As
compared
to
those
observed
in
a
compound
heterozygote
for
Hb
Grey
Lynn
/
α
(
0
)
-
thalassemia
reported
previously
,
higher
MCV
(
81
.
7
fL
)
and
MCH
(
26
.
3
pg
)
values
with
a
lower
level
of
Hb
Grey
Lynn
(
19
.
7
%
)
were
observed
in
the
proband
.
The
normochromic
normocytic
anemia
observed
could
be
due
to
the
interaction
of
Hb
Grey
Lynn
with
α
(
+
)
-
thalassemia
.
The
two
mutations
could
be
identified
using
PCR-RFLP
and
allele-
specific
PCR
assays
developed
.
Diseases
Validation
Diseases presenting
"normocytic anemia"
symptom
alpha-thalassemia
This symptom has already been validated
