Marrow Failure Syndromes Flashcards
0
Q
Fanconi anemia
A
Short Underdeveloped thumbs Patches of hyper pigmentation Pancytopenia think FA Young ADOLESCENT with aplastic anemia Diagnosis: phytohemaggluton of PERIPHERAL BLOOD, skin fibroblasts Associated with mds and aml
1
Q
Diamond blackfan anemia
A
Craniofacial abnormalities Malformed thumb Cardiac and urogenital involvement Isolated anemia RPS19 gene Elevated eADA LEVEL--erythrocyte adenosine deaminase Treat with steroids and prbc
2
Q
Diamond black fan anemia
A
RPS19 gene
3
Q
Congenital dyserythropoeitic anemia
A
CDA 1= CDAN1 gene
CDA 2= defective glycolyslation
4
Q
Schwachman-Bodian-diamond syndrome
A
SBDS gene
5
Q
Congenital a megakaryocytic thrombocytopenia
A
C-MPL gene
6
Q
Dyskeratosis congenita
A
DKC1 gene
Terc gene
7
Q
Congenital neutropenia
A
ELA-2 gene
8
Q
Chediak higashi
A
LYST gene
9
Q
Chronic granulomatous gene
A
CYBB gene
10
Q
Myeloperoxidase deficiency
A
MPO gene
11
Q
Leukocyte adhesion deficiency
A
Type 1–beta 2 integrin
12
Q
Familial Mediterranean fever
A
MEFV gene
13
Q
Hyper IgD syndrome
A
Mevalonate kinase 1 gene
14
Q
TRAPS syndrome
A
TNF receptor 1 gene
