X-linked sideroblastic anemia in females

2.

Fujiwara

T

,

Harigae

H

.

Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia

.

Free Radic Biol Med

.

2019

;

133

:

179

-

185

.

3.

Bergmann

AK

,

Campagna

DR

,

McLoughlin

EM

, et al.

Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations

.

Pediatr Blood Cancer

.

2010

;

54

(

2

):

273

-

278

.

4.

Fouquet

C

,

Le Rouzic

MA

,

Leblanc

T

, et al.

Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort

.

Br J Haematol

.

2019

;

187

(

4

):

530

-

542

.

5.

Bottomley

SS

.

Secondary iron overload disorders

.

Semin Hematol

.

1998

;

35

(

1

):

77

-

86

.

6.

Bottomley

SS

.

Sideroblastic anemia

.

Hosp Pract (Off Ed)

.

1991

;

26

(

suppl 3

):

37

-

40

.

7.

Bottomley

SS

,

May

BK

,

Cox

TC

,

Cotter

PD

,

Bishop

DF

.

Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia

.

J Bioenerg Biomembr

.

1995

;

27

(

2

):

161

-

168

.

8.

Aivado

M

,

Gattermann

N

,

Bottomley

S

.

X chromosome inactivation ratios in female carriers of X-linked sideroblastic anemia

.

Blood

.

2001

;

97

(

12

):

4000

-

4002

.

9.

Aivado

M

,

Gattermann

N

,

Rong

A

, et al.

X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns

.

Blood Cells Mol Dis

.

2006

;

37

(

1

):

40

-

45

.

10.

Campagna

DR

,

de Bie

CI

,

Schmitz-Abe

K

, et al.

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations

.

Am J Hematol

.

2014

;

89

(

3

):

315

-

319

.

11.

Oakley

JH

,

Campagna

DR

,

Sun

L

, et al.

A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia

.

Pediatr Blood Cancer

.

2022

;

69

(

1

):

e29309

.

12.

Ginzburg

YZ

.

Hepcidin and its multiple partners: complex regulation of iron metabolism in health and disease

.

Vitam Horm

.

2023

;

123

:

249

-

284

.

13.

DeZern

AE

,

Malcovati

L

,

Ebert

BL

.

CHIP, CCUS, and other acronyms: definition, implications, and impact on practice

.

Am Soc Clin Oncol Educ Book

.

2019

;

39

:

400

-

410

.

14.

Sperling

AS

,

Gibson

CJ

,

Ebert

BL

.

The genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia

.

Nat Rev Cancer

.

2017

;

17

(

1

):

5

-

19

.

15.

Kluk

MJ

,

Lindsley

RC

,

Aster

JC

, et al.

Validation and implementation of a custom next-generation sequencing clinical assay for hematologic malignancies

.

J Mol Diagn

.

2016

;

18

(

4

):

507

-

515

.

16.

Alter

BP

,

Rosenberg

PS

,

Day

T

, et al.

Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes

.

Br J Haematol

.

2013

;

162

(

4

):

542

-

546

.

17.

Link

MP

,

Alter

BP

.

Fetal-like erythropoiesis during recovery from transient erythroblastopenia of childhood (TEC)

.

Pediatr Res

.

1981

;

15

(

7

):

1036

-

1039

.

18.

Astner

I

,

Schulze

JO

,

van den Heuvel

J

,

Jahn

D

,

Schubert

WD

,

Heinz

DW

.

Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans

.

EMBO J

.

2005

;

24

(

18

):

3166

-

3177

.

19.

Taylor

JL

,

Brown

BL

.

Structural basis for dysregulation of aminolevulinic acid synthase in human disease

.

J Biol Chem

.

2022

;

298

(

3

):

101643

.

20.

Malcovati

L

,

Karimi

M

,

Papaemmanuil

E

, et al.

SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts

.

Blood

.

2015

;

126

(

2

):

233

-

241

.

21.

Malcovati

L

,

Stevenson

K

,

Papaemmanuil

E

, et al.

SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS

.

Blood

.

2020

;

136

(

2

):

157

-

170

.

22.

Todisco

G

,

Creignou

M

,

Bernard

E

, et al.

Integrated genomic and transcriptomic analysis improves disease classification and risk stratification of MDS with ring sideroblasts

.

Clin Cancer Res

.

2023

;

29

(

20

):

4256

-

4267

.