Abbreviations

AAV

adeno-associated virus

dm

double minute (chromosome)

ADA

adenosine deaminase

EGF

epidermal growth factor

AE1

anion exchanger protein 1

EPO

erythropoietin

ALAS

5-aminolaevulinate synthase

ERT

enzyme replacement therapy

ALL

acute lymphoblastic leukemia

EST

expressed sequence tag

AML

acute myeloid leukemia (Chapters 2, 4)

ET

essential thrombocythemia

acute myelogenous leukemia (Chapters 5, 6, 8)

FA

Fanconi's anemia

APC

activated protein C; antigen-presenting cell

FAB

French-American-British (classification of

APL

acute promyelocytic leukemia

myelodysplastic syndromes)

ASCT

autologous stem cell transplantation

FACS

fluorescence-activated cell sorter

AT

antithrombin

FcR

Fc receptor

ATRA

all-trans-retinoic acid

FG

phenylalanine-glycine

B-CLL

B-cell chronic lymphocytic leukemia

FISH

fluorescence in situ hybridization

BCR

breakpoint cluster region

G6PD

glucose-6-phosphate dehydrogenase

BM

bone marrow

GAP

glycine-alanine-proline

BMF

bone marrow failure

G-CSFR

granulocyte colony-stimulating factor receptor

BPG

2,3-biphosphoglycerate

GDP

guanosine diphosphate

BSS

Bernard-Soulier syndrome

Ge

Gerbich erythrocyte antigen

CBF

core binding factor

GEP

gene expression profiling

Cbl

cobalamin

GM-CSF

granulocyte macrophage colony-stimulating

CDA

congenital dyserythropoietic anemia

factor

CDAE1

N-terminal cytoplasmic domain of anion

GP

glycoprotein

exchanger protein 1

GPC, D

glycophorin C, glycophorin D

CDKI

cyclin-dependent kinase inhibitor

GPI

glucosylphosphatidylinositol

CDR

complementarity-determining region

GT

Glanzmann thrombasthenia

CFC

colony-forming cell

GTP

guanosine triphosphate

CFU

colony-forming unit

GVHD

graft-versus-host disease

CFU-S

colony-forming units-spleen

HDN

hemolytic disease of the newborn

CGH

comparative genomic hybridization

HGF

hematopoietic growth factor

CH

heavy-chain constant region

HHV-8

human herpesvirus

CHR

complete hematologic response

HLA

human leukocyte antigen

CLL

chronic lymphocytic leukemia

HMCL

human multiple myeloma cell line

CLM

common lymphoid progenitor

HPA

human platelet antigen

cM

centimorgan

HPFF

hereditary persistence of fetal hemoglobin 1

CML

chronic myeloid leukemia

HPP-CFC

high proliferative potential colony-forming cell

CNS

central nervous system

HSC

hemopoietic stem cell

CSF

colony-stimulating factor

HSCT

hematopoietic stem cell transplantation

CTLA

cytotoxic T-lymphocyte antigen

hsr

homogeneously staining region

DC

dyskeratosis congenita

IAA

idiopathic aplastic anemia

DLBL

diffuse large B-cell lymphoma

IDDm

insulin-dependent diabetes mellitus

IFN-y

interferon y

NHL

non-Hodgkin's lymphoma

Ig

immuno globulin

NO

nitric oxide

IL

interleukin

NOs

nitric oxide synthase

IMF

idiopathic myelofibrosis

ORF

open reading frame

IPI

International Prognostic Index

PAR

protease-activated receptor

IPPS

International Prognostic Scoring System

PBMC

peripheral blood mononuclear cell

ISC

irreversibly sickled cell

PBPC

peripheral blood progenitor cell

ITD

internal tandem duplications

PCR

polymerase chain reaction

ITP

idiopathic thrombocytopenic purpura

PEG-MGDF

pegylated megakaryocyte growth and

IVIg

intravenous immunoglobulin

development factor

IVS

intervening sequence

PETS

paraffin-embedded tissue section

kb

kilobase pair (1000 base pairs)

PMPS

Pearson's marrow-pancreas syndrome

KS

Kaposi's sarcoma

PNH

paroxysmal nocturnal hemoglobinuria

KTLS

c-kitposThy-1.1lowLinnegSca-1pos cellular

PUBS

peri-umbilical blood sampling

phenotype

PV

polycythemia vera

LCS

locus control region

RBC

red blood cell

LOH

loss of heterozygosity

RSCA

reference strand conformational analysis

LTC-IC

long-term culture-initiating cell

RT-PCR

reverse transcriptase-polymerase chain reaction

LTR

long terminal repeat

SA

sideroblastic anemia

mAb

monoclonal antibody

SCF

stem cell factor

M-BCR

major breakpoint cluster region

SDS-PAGE

sodium dodecylsulfate-polyacrylamide gel

m-BCR

minor breakpoint cluster region

electrophoresis

MBR

major breakpoint region

SKY

spectral karyotyping

MCH

mean corpuscular hemoglobin

SLE

systemic lupus erythematosus

MCHC

mean corpuscular hemoglobin concentration

SNO-Hb

S-nitrosohemoglobin

MCL

mantle cell lymphoma

SNP

single-nucleotide polymorphism

M-CSF

macrophage colony-stimulating receptor

TBI

total body irradiation

MCV

mean cell volume

TCR

T-cell receptor

MDS

myelodysplastic syndrome

TF

tissue factor

MGDF

megakaryocyte growth and development factor

TGF-P

transforming growth factor-P

MGUS

monoclonal gammopathy of undetermined

THF

tetrahydrofolate

significance

V, D, J, C

variable, diversity, joining and constant regions

MHC

major histocompatibility complex

VCAM-1

vascular cell adhesion molecule-1

MM

multiple myeloma

VH

heavy-chain variable region

MPD

myeloproliferative disorder

vWD

von Willebrand disease

MRD

minimal residual disease

vWF

von Willebrand factor

mtDNA

mitochondrial DNA

vWF:RCo

von Willebrand factor ristocetin cofactor activity

NAITP

neonatal/fetal alloimmune thrombocytopenia

WBC

white blood cell

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