Bone Marrow Failure

Question 1

Severe AA def

Answer 1

2/3 (ANC < 500, plts < 20K or retic < 1%), and 1/2 (<25% BM cellularity, 25-50% cellularity with <30% hematopoietic stem cells)

Question 2

Very severe AA

Answer 2

ANC < 200

Question 3

PNH molecular defect

Answer 3

PIG-A (GPI anchors CD55/59)

Question 4

Fanconi Anemia molecular defect

Answer 4

FANC genes, all AR but FANC B is XL

Question 5

DKC defect

Answer 5

telomere disorders

Question 6

Severe congenital neutropenia molecular defect

Answer 6

ELANE (same for cyclic neutropenia)

Question 7

DBA molecular defect

Answer 7

ribosomal proteins (RPS or RPL)

Question 8

Congenital Amegakaryocytic Thrombocytopenia defect

Answer 8

AR, c-MPL

Question 9

Radioulnar synostosis with amegakaryocytic thrombocytopenia

Answer 9

HOXA11 or MECOM

Question 10

TAR molecular defect

Answer 10

AR, RBM8A mutations

Question 11

Pearson Syndrome inheritance

Answer 11

Mitochondrial

Question 12

Pearson Syndrome bone marrow findings

Answer 12

Vacuolated precursors