Hematology Flashcards
What is neutropenia?
low absolute number of neutrophils expressed as absolute neutrophil count (ANC)
what is the main complication of beta-thalassemia major?
hemochromatosis
- autosomal recessive
- oculocutaneous albinism
- large blue-gray granules in the cytoplasm of neutrophils
- neutropenia
- blond or brown hair with silver streaks
Chediak-Higashi syndrome
What is the main management of iron deficiency anemia ?
1) iron supplementation (4-6mg/kg/day)
2) dietary counseling
what is the treatment for von Willebrand disease?
DDAVP - Desmopressin acetate. Induces release of vWf from endothelial cells
What is the coagulation defect in von willebrand’s disease?
defective platelet function because of decrease or defective von Willebrand’s factor
what is the management for beta-thalassemia major?
lifelong transfusions and often splenectomy
What does ANC stand for?
absolute neutrophil count - the percentage of WBCs that are neutrophils, bands, and immature myeloid cells
What 2 age groups is nutritional iron deficiency most common
1) 9 - 24 months - inadequate intake and iron stores
2) adolescent girls - poor diet, rapid growth, loss of iron from menstruation
What are the laboratory findings in hemophilia A
- prolonged aPTT
- normal PT, bleeding time, platelet count, platelet function assay
- low factor 8 protein activity
What is the pathophysiology of PK deficiency?
decreased production of pyruvate kinase production leading into leading to ATP depletion
What would you expect the reticulocyte count be in a hemolytic anemia?
high
- hemolytic anemia
- hepatosplenomegaly
- bone marrow hyperplasia if untreated
- delayed growth and puberty
- hypochromia and microcytosis
- target cells
- poikilocytes on blood smear
beta-thalassemia major
- Autosomal recessive
- frequent and life-threatening pyogenic bacterial infections beginning in infancy
- ANC usually < 300 cells/mm^3
severe congenital agranulocytosis (Kostmann syndrome)
what are the 2 major causes of macrocytic anemia is children?
1) folic acid deficiency
2) b12 deficiency
What are the 2 most common microcytic, hypo chromic anemias in childhood?
iron deficiency anemia (most common) and beta-thalassemia trait
What is the inheritance patter for hemophilia A?
x-linked
What are the clinical features of Chronic benign neutropenia of childhood (CBD)?
Children with increased incidence of mild infections, such as otitis media, sinusitis, pharyngitis, and cellulitis. Children are otherwise healthy, with normal appearance and growth.
What is hemochromatosis?
iron accumulation within the heart, liver, lungs, pancreas, and skin
What are some clinical features of anemia in infants
pale, underweight
3 year old female with splenomegaly, pallor, weakness. Elevated reticulocyte count, spherocytes on blood smear, abnormal RBC fragility
hereditary spherocytosis
- autosomal recessive
- short stature
- immunodefficiency
- fine hair
- neutropenia
cartilage-hair hypoplasia syndrome
What is the inheritance pattern of pyruvate kinase (PK) deficiency?
autosomal recessive
What is the inheritance pattern of von willebrand’s disease?
automsomal dominant
