Chapter 101. Hemolytic Anemias and Anemia Due to Acute Blood Loss (Part 6) doc
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Chapter 101. Hemolytic Anemias and Anemia
Due to Acute Blood Loss
(Part 6)
Peripheral blood smear from patients with membrane-cytoskeleton
abnormalities. A. Hereditary spherocytosis. B. Hereditary elliptocytosis,
heterozygote. C. Elliptocytosis, with both alleles of the α-spectrin gene mutated.
[From L Luzzatto, in J Gribben and D Pravan (eds): Molecular Hematology, 2d
edition. Oxford, Blackwell, 2005; with permission.]
Table 101-3 Inherited Diseases of the Red Cell Membrane-
Cytoskeleton
Gene Chromoso
mal Location
Protei
n Produced
Disease(
s) with
Certain
Mutations
Comment
s
(Inheritance)
SPTA1
1q22-q23 α-
Spectrin
HS
(recessive)
Rare.
HE
(dominant)
Mutations
of this gene
account for about
65% of HE.
More severe
forms may be
due to
coexistence of
an
otherwise silent
mutant allele.
SPTB
14q23-q24.1
β-
Spectrin
HS
(dominant)
Rare.
HE
(dominant)
Mutations
of this gene
account for
~30% of HE,
including some
severe forms.
ANK1
8p11.2 Ankyr
in
HS
(dominant)
May
account for
majority of HS.
SLC4A
1
17q21 Band
3 (anion
channel)
HS
(dominant)
Mutations
of this gene may
account for
~25% of HS.
Southea
st Asian
ovalocytosis
(dominant)
Polymorp
hic mutation
(deletion of 9
amino acids);
clinically
asymptomatic;
protective against
Plasmodium
falcipa
rum.
EPB41
1p33-p34.2 Band
4.1
HE
(dominant)
Mutations
of this gene
account for about
5% of HE,
mostly with
prominent
morphology but
no hemolysis in
heterozygotes;
severe hemolysis
in homozygotes.
EPB42
15q15-q21 Band
4.2
HS
(recessive)
Mutations
of
this gene
account for about
3% of HS.
RHAG
6p21.1-p11 Rhesu Chronic
Very rare;
s antigen nonspherocytic
hemolytic
anemia
associated with
total loss of all
Rh antigens.
Note: HS, hereditary spherocytosis; HE, hereditary elliptocytosis.
