Hem/Onc Flashcards
Hemoglobin SC
C + S
mild hemolytic anemia
Hemoglobin C Heterozygote
Normal
Hemoglobin C Homozygous
mild hemolytic anemia, but no vasoocclusive crises
Diamond Blackfan Anemia
anemia + thumb anomalies
Wiskott-Aldrich Syndrome
x-linked immunodeficiency w/ eczema
thrombocytopenia w/ small platelets
TAR syndrome
thrombocytopenia-absent radii syndrome
autosomal recessive, presents in neonatal period
Schwachman-Diamond Syndrome
AR, SBDS gene
- neutropenia
- metaphyseal dysostoses
- exocrine pancreatic insuffiency, diarrhea, recurrent infections, FTT
Fanconi Anemia
AR, poor DNA repair absent thumbs, absent radii pancytopenia microcephaly, renal anomalies cafe-au-lait spots, dark pigmentation
RDW and anemia
increased in IDA, normal in thalassemias
B thal major
- Cooley anemia, no B-globin production
- only HbF present
- transfusion dependent
- chipmunk facies (expansion of bone marrow in facial bones)
Cyclic Neutropenia
fever, neutropenia (<200), ulcers, cervical lymphadenitis every 21 days
EPO production in utero
liver
Bernard-Soulier Syndrome
AR
mild thrombocytopenia w/ giant, abnormal platelets
severe mucocutaneous bleeding in infancy
Kostmann Syndrome
severe congenital neutropenia
AR, young age w/ severe bacterial infections, ANC <200
Chronic Benign Neutropenia
persistent neutropenia but w/o infections
autoantibodies to granulocytes
Complication of goat milk intake
folate deficiency
Abnormal thumbs, think….
trisomy 18, fanconi anemia
APC resistance
Factor V Leiden
Maternal Autoimmune Neonatal Thrombocytopenia due to
transplacental passage of maternal IgG antiplatelet antibodies
Fanconi Anemia, main complication
AML
Delayed separation of umbilical cord or omphalitis, clinical clue for
leukocyte adhesion deficiency
Job Syndrome
Hyperimmunoglobulin E syndrome
S aureus infections, skin abscesses
Abnormal thumbs, think….
trisomy 18, fanconi anemia
Evans Syndrome
ITP + AIHA
