Transfusion flexing
This antigen system is notable for being the only antigen system that is produced in plasma and passively absorbed into RBC membranes, rather than being produced by the RBC during its maturation.
Lewis antigen
When measuring neutrophil clones for PNH subtypes, this is the subtype which is characterized by partial deficiency of GPI-linked proteins, as opposed to complete deficiency
Type 2 clones
These numbers define the threshold count for classification of low count to high count MBL, and the threshold for classification of high count MBL to Rai 0 CLL, In patients with a circulating lymphocytosis with a CLL immunophenotype.
0.5 or higher (HC-MBL)
5.0 or higher (CLL)
This disorder, caused by mutations in spectrin, is commonly inherited in an autosomal recessive pattern, and some of the testing for it can get a bit hot.
hereditary pyropoikilocytosis
Biallelic mutations in this gene are associated with the best prognosis in AML (if we ignore APL, of course), whereas biallelic mutations in this gene are associated with the worst prognosis
CEBPA best
TP53 worst
These two variants of partial D, one more prevalent in caucasians and the other more prevalent in asians, are different in that only one is likely to result in formation of anti-D
(name each mutation, and which one is likely to form anti-D antibodies)
DVI - caucasians - risk of anti-D
DEL - asians - not likely to alloimmunize
These are the two pathophysiologic mechanisms by which untreated PNH patients can develop recurrent abdominal pain
Mesenteric thrombi/ischemia
Smooth muscle spasm from nitric oxide depletion by free radical byproducts of intravascular hemolysis
This TKI in CML is notable for targetting the myristoyl-binding pocket of the ABL1 kinase, locking the enzyme into an inactive conformation.
Asciminib
A cause of many hematology referrals but not actually a disorder, the absence of this red cell antigen confers resistance to infection by this specific species of malaria
Duffy null
Plasmodium vivax
These 4 classes of drugs, targeting different mutations in AML, have all been shown to cause differentiation syndrome
ATRA/ATO for APL
IDH inhibitors
Menin inhibitors
FLT3 inhibitors (<5%)
This disorder, which results in loss of expression of Kell antigen, can also be associated with chronic granulomatous disease, due to the close proximity of both genes on this chromosome
(Name the disorder, and the chromosome)
McLeod syndrome, x chromosome
While not required for the diagnosis of this conditions, the presence of PNH clones, when detected, do seem to impact the outcomes of patients somehow
(What is the diagnosis, and how does the test result predict outcome?)
Severe aplastic anemia, PNH clones predict improved responsiveness to IST and improved overall survival in retrospective analysis of multiple studies.
This mutation is necessary for confirming a diagnosis of chronic neutrophilic leukemia
CSF3R
Unlike most other red cell disorders, this disorder is caused by a mutation in transmembrane ion channels, and unlike most other red cell disorders, splenectomy is considered to be contraindicated due to a high risk of this complication
(Name the disorder, and the complication)
Hereditary xerocytosis
high rates of thrombosis post splenectomy
This AML drug targets the "smoothened" receptor, which in turn interrupts the signalling pathway that is named after a certain blue fellow
(Name the drug, and the pathway)
Glasdegib
Sonic Hedgehog
The "Bombay" phenotype, which is defined as a loss of this antigen, is inherted in an autosomal recessive fashion through two mutated copies of this gene
(name the antigen, and the gene)
H antigen
FUT1 gene
This subcutaneously administered PNH treatment, while not unique when considering its therapeutic target, does have the distinction of having a dosing frequency of every 4 weeks
(Name the medication, and the target)
Crovalimab
C5
To have a diagnosis of indolent systemic mastocytosis, one cannot have more than 1 of these so-called B findings and none of these C findings
(list them all)
B: tryptase > 200, hepatomegaly/splenomegaly without liver dysfunction or hypersplenism, lymphadenopathy (new 2022 criteria include KIT VAF >10%, bone marrow hypercellularity or left shift or dysplasia without satisfying criteria for AHN)
C: Lytic bone lesion, hypersplenism, liver dysfunction, cytopenias (100/100/10), weight loss due to malabsorption from GI involvement
This protein, encoded by the EPB41 gene, is a key structural element of the erythrocyte membrane skeleton, and mutations in this gene account for approximately 5% of cases of this red cell disorder
Protein 4.1
Hereditary elliptocytosis
AML with this mutation normally has a "good" prognosis, and expresses this typically lymphoid marker on flow cytometry, but it sometimes also co-expresses this other mutation, which makes the prognosis much worse, and which instead shows this aberrant marker on flow cytometry
(Name the good mutation, the flow marker, the bad mutation that's sometimes coexpressed, and the aberrant flow marker seen in this setting)
CBF-AML which expresses CD19 on flow
KIT mutation, which expresses CD56 on flow
This reagent can be used to degrade daratumumab from RBCs during transfusion testing, but also destroys this blood group
Dithiothreitol
Kell antigen
Among these two approved oral treatments for PNH, only the one targeting this complement factor is approved as a monotherapy, as opposed to only being approved as an add-on tehrapy
(name both therapies, which one is approved as monotherapy, and what the molecular target is)
Danicopan (Factor D, only approved as an add-on)
Iptacopan (Factor B, approved as monotherapy)
Thank goodness that we have pirtobrutinib, which is still active against CLL that develops a mutation in this specific BTK coding gene, which is the most common mechanism of BTKi resistance in CLL
C481S
This is the specific mutation the underlying cause of most cases of hereditary spherocytosis, and it is located on this specific chromosome
ANK1 gene
chromosome 8
T prolymphocytic leukemia can be difficult to distinguish from other lymphoproliferative disorders, at least from a morphologic perspective. A complex karyotype, particularly when translocations in these two chromosomes are seen, as well as an immunophenotypic staining which is positive for this specific receptor, can help confirm the suspected diagnosis.
chromosomes 8 and 14
TCL1