Maybe they were born with it
What is one of the first symptoms infants and toddlers with SCD
Sickle cell dactylics
Whats the most likely diagnosis of a 4 y.o girl presents with:
2 weeks ago with viral infection, today acute onset bloody nose and petechial rash, hemoglobin normal, Platelets 4000, peripheral smear normal expect lack of platelets
ITP, immune thrombocytopenia
What is the predominant hemoglobin at birth?
HbF
9 month old with
Pallor, Irritability, poor growth, hepatosplenomegaly, jaundice
What is the diagnosis ?
Beta, thalassemia major aka Coolely anemia
4 y.o old with follow labs
low serum iron, high TIBC, low Transferrin, low ferritin
Whats the diagnosis
Iron deficiency anemia
What is the 1st site of RBC formation in the fetus ?
Yolk sac
What is the leading cause of death in children and adults with SCD
ACS - acute chest syndrome
Whats the most likely diagnosis of a 4 y.o girl presents with:
Fever, oral ulcers, cervical lymphadenitis, occasional rectal and or vaginal ulcer and neutropenia.
These signs and symptoms occur about every 21 day
Cyclic neutropenia
What organ produces most feta blood cells a 3 month?
Liver
5-6 weeks liver takes over and peeks at 5 months
What disease has these characteristics?
-point mutation at 6th codon of the bette globe gene located on the short arm of chromosome 11
adenine is replace bu thymidine resulting in famine being encoded instead of glutamic acid
Sickle cell disease
9 y.o present with a hx of
short stature, absent thumbs, abnormal radii. microcephaly, cafe au last spots, dark pigmentation, renal anomalies
today presents with pallor, fatigue , bruising and petechiae. CBC show pancytopenia.
Whats the diagnosis
Fanconi anemia
What is the lifespan of a mature RBC
120 days
What congenital hereditary anemia has these characteristics?
- structural or functional abnormality of cytoskeleton protein, spectrum, ankyrin and less commonly bans 3 or protein 4.2
-complications: cholelithiasis due to bilirubin stones and aplastic crisis form parvovirus infection
Hereditary spherocytosis
What syndrome has these findings:
autosomal recessive, bleeding in the neonatal period, thrombocytopenia is severe nut rest of blood lines are normal, new for has no radii but normal thumbs.
Thrombocytopenia-absent radius (TAR) syndrome
which organ produces EPO in the fetus?
Liver