Page 264 - Clinical Hematology_ Theory _ Procedures ( PDFDrive )

248 PART 4 ■ Erythrocyte Disorders

CONS I U IONAL BONE MARROW Laboratory Findings

FAILURE SYNDROMES ASSOCIA ED Am m m , %

WI H APLAS IC ANEMIA m m -

(F . . ). P m

Ex m m m . I m -

m Fanconi’s anemia, - , m

k , S m -D m , congenital / L . I ,

m k m . S m -D m m m m -

m k m - . S mm k m m k

“B M F I S - .

C L ” . T

F ’ m m -

Fanconi’s Anemia m m k x ,

x m , m C (MMC) x (DEB).
F ’ m m T F ’ m m m

m . T F ’ - m m k m ,

m . A m - . P HLA m

, F ’ m m q ( HLA

x m % % .

m ).

F ’ m m - Therapy

m x FA-B , m

X- k ( . ). T F ’ m m

z m m q q. C m m - . B m

q m k , , - m HLA-

m , , x . . m

F ’ m mm m .

m C m m

m - m .

, m k , HLA -
Clinical Signs and Sym ptom s
. C

C m m F ’ m mm CD
+
( , ), k - k m m k (CD)

m ( é ), . O m . H m m m

m k ( m ( % %) m .

m ), m m , m - S m CD /CD m m -
−
+
, m, m , m . . I

m m

% m m
Genetic Tests for Inherited Bone
TABLE 13.3 % m . A
Marrow Failure Syndromes m

Inheritance m k m
Syndrome Pattern Gene k - k DNA .
A m m-

Fanconi’s anemia Autosomal FANCA, FANCC, - m (CSF). T
recessive FANCD1, FANCD2, m

FANCE, FANCF, m m
FANCG, FANCI, . P m m

FANCJ, FANCL, .
FANCM, FANCN F m m F ’ m

Fanconi’s anemia X-linked recessive FANCB m . S m
m F ’ m .
Diamond- Autosomal RPS113, RPS17, T m

Blackfan anemia dominant RPS24, PRL35A, . A m -

RPS5, RPL11, m . A -

RPS7, RPL36, ,

RPS15, RPS27A

m . P m