What is the substitution and defect in sickle cell anemia?
Valine for glutamic acid in position 6
Sickle = Vicious Goblin
qualitative abnormality of beta globin chain gene
Hgb electrophoresis in sickle cell
Hb S and Hb F but no Hb A
Macrocytic anemia with low reticulocytes, abnormal facies, triphalangeal thumbs, low Bw, short stature, congenital anomalies
Diamond Blackfan anemia
Main source of EPO at birth?
liver > kidneys
switches partially from liver to kidneys in 3rd trimester
Hematopoiesis switches from yolk sac to liver when?
6 weeks
Hematopoiesis switches from liver to bone marrow when?
22w
Howell Jolly bodies
spleen dysfunction or absence
Heinz bodies
hemolytic anemias or normal newborn
G6PD deficiency - when to test
After reticulocytosis and crisis bc young rbcs have normal levels of enzyme activity
G6PD deficiency pathophysiology
catalyzes formation of NADPH which form antioxidants catalase and glutathione within the RBC
Causes of polycythemia
Maternal diabetes, FGR, thyrotoxicosis, trisomy 21, Beckwith Wiedemann
Radii and ulnar abnormalities, facial hemangioma, thrombocytopenia with ICH leading cause of death. What is it and how inherited?
TAR syndrome. Thrombocytopenia with absent radii. Autosomal recessive
normal thumbs and digits unlike Fanconi’s anemia
What are the diff’s between Diamond Blackfan and Fanconi’s anemia?
Diamond Blackfan - presents early, isolated anemia
Fanconi’s - presents later, pancyotopenia/marrow hypoplasia, also renal anomalie. Mitomycin C test.
Both with triphalangeal thumbs
Peripheral smear in G6PD
bite cells and Heinz bodies from oxidative stress
MoA of phenobarbital for elevated dbili?
Enhances conjugation
How does phototherapy work?
Takes bilirubin and photo isomerizes and also converts to lumirubin. Both are then excreted
Adverse effects of double volume exchange transfusion
hypocalcemia
hypomagnesemia
hypoglycemia
hyperkalemia
acid-base issues
NEC
apnea
thrombocytopenia
arrhytmia
(rare mortality)
When to treat polycythemia?
Only if symptomatic >65% with partial exchange
Controversial if >70 and asymptomatic
Symptoms:
Resp distress
Renal failure
Thrombocytopenia
Hypoglycemia
Which is the only cell-mediated immunodeficiency? What type of infections do you get?
IPEX syndrome
T-cell
T cells protect against:
Viruses
Fungi
Intracellular bacteria
Some parasites
Tumor cells
Components of FFP? When to use?
All coagulation factors
Anticoagulant things: proteins C, S, ATIII, plasminogen
Use when need anticoagulation
What are the components in cryoprecipitate? Indications?
Fibrinogen, factor 13, factor 8, vWF. Indication is to supply fibrinogen
Pancreatic insufficiency
Neutropenia, (most common), anemia, thrombocytopenia
Recurrent infections
Skeletal abnormalities - metaphysical dystopias, thoracic dystrophies, low turnover osteopenia
Increased risk of what?
Schwachman Diamond
SDS gene mutation on chromosomes 7q11, has role in maturation and assembly of 60S ribosomal subunit
Risk of AML and aplastic anemia
Normocytic normochromic anemia
Amish infant
Indirect hyperbili
What is the disorder/
PK deficiency - enzyme defect results in less ATP and gives normocytic normochromic anemia with appropriate reticulocyes. Common in Amish. Autosomal recessive
Normocytic normochromic anemia
Decreased NADPH levels
What disorder?
How inherited?
G6PD deficiency
X linked recessive but females can be affected through lyonization
