Genetics Flashcards
Grey platelet syndrome
NBEAL2, GFI 1B
AR
Wiskott Aldrich
WASP, X-linked
CD43
Bernard Soulier
GP1b/V/IX
GP1BB, GP1BA, GP9 genes
AR
Severe Congenital Neutropenia
SCN
Kostmann’s syndrome
ELANE
Hermansky Pudlak
HPS1, 1:1800 in Puerto Rico
Most are AR
Glanzmann Thrombasthenia
ITGA2B or ITGB3
AR
Chediak Higashi Syndrome
LYST
lysosomal storage issue, giant lysosomes and granules
AR
Polycythemia Vera
JAK2 V617F 95%
Jak2 Exon 12
Essential Thrombocytosis
JAK2 50-60%
CALR 30%
MPL 5-10%
Myelofibrosis
JAK2 50-60%
CALR 25%
MPL 5-10%
CML
BCR-ABL types
210 common
230 more mature neuts
190 ALL mostly
CML additional cytogenetic abnormalities
+ 8, 17, 19, 21
-7
i17q
3q26
11q23
Extra Ph+
Genetic predisposition syndromes, with thrombocytopenia
RUNX1
ANKRD26
ETV6
macrothrombocytopenias
MYH9
BSS
VWD2B
GATA1 [Xlinked]
Paris Trousseau [11q23 del]
Grey platelet
Congenital Amegakaryocytic thrombocytopenia [CAMT]
c-MPL gene
Thrombocytopenia absent radii
1q21 micerodeletion, RBM8A gene
RUSAT = radioulnar synostosis with amegakaryocytic thrombocytopenia
HOXA11 or MECOM
MECOM is AR and risk of myeloid malignancy and BMF
VWF gene and inheritance
VWF on 12p
Most Type 1 and 2 are AD
Type 3 AR, 2N AR
Thalassemia genes
alpha is 16
(4copies of alpha, 4x4 is 16)
beta is 11
Hb Variants
HbS: B chain 6th AA Glu->Val
HbC: Glu -> Lys
HbE: 26th AA Glu->Lys
Hb Lepore: crossover of beta and delta, so beta gene under delta promoter -> less beta -> like beta thal