Hemoglobin F
Hb F

Hemoglobin A2
Hb A2

Hemoglobin A1
Hb A1

Hemoglobin H
Hb H

Barts Hemoglobin

Heinz bodies

Beta Thalassemia

alpha thalassemia
alpha chain gene deletion

Sickle cell Dz
6th codon of beta globin on chr 11
valine for glutamic acid

RBC low, Hb low, Rdw high, low MCHC
BM- cells with iron aggragates around nucleus, iron clusters in RBC

increased hemolysis, jaundice, Spleen, pallor, reticulocytosis, normocytic anemia, increased MCHC, nuclear remnants in the cells
Most cc of hemolytic anemia in northern europe??

Anemia, abnormal thumbs & radii,
microcephaly, short stature, CALS, hyperpigmentation, renal defects

Hypophosphatemia due to phosphaturia
renal glycosuria with normal bld glucose
Aminoaciduria, Tubular proteinuria,
proximal RTA

Macrocytic anemia, low retics, low wbc, low pltlets, Abnormal thumbs, Short stature, renal defects, hypogonadism, gluacoma, MR, cong.heart defect, dysmorphism(micrognathia, flat thenar)

Low platelets, normal RBC & WBC
absent radius, normal thumbs, milk protein allergy

low WBC, exocrine pancreatic failure, Short stature, metaphyseal dysostosis

Oxidative injury causes Hemolysis?
only in Boys.

Hemolysis, Pts stable and asymptomatic with Hb 5-6 (due to high 2, 3 DPG, oxy curve shifts to easily release o2)

Early AM hematuria, low RBC, low pltlets, venous thrombosis, aplastic anemia, chest pain, abd.pain

Anemia, jaundice, hemolysis, dark urine, spleen, increased retics, smear -microspheorcytes

Neutropenia Q monthly or Q wkly
ANC< 200, Repeated fevers, aphtous ulcers, LAD, skin infections, pneumonias, perineal ulcers

Neupogen (Filgrastim)
Neulasta (PEG-filgrastim)

Neutrophils are chronically low.
ANC < 200, BM shows cells in promyelocyte stage

Children less than 3 yrs present with mild skin & mucosal membrane infections.
also have low wbc and neutropenia

Toddlers less than 3 yrs present with viral infection, sudden onselt anemia, normal MCV, self resolving

Formula to calculate ANC from CBCD

Recurrent skin infections, severe periodontitis, gingivitis, pneumonia, Elevated WBC count, delayed umbilical seperation, Omphalitis

Staph/Ecoli infections, invasive fungal infections, CBC shows elevated WBC with left shift

Oculocutaneous albinism, neutropenia, prolonged bleeding time, frequent infections

Recurrent infections, Eczema, skin cold abscess, Boils, allergies, elevated IgE

Aquired TTP is due to autoantibodies to??

2-5 yr old healthy pt suddenly presents post viral infection with skin & mucosal bleeding, CBC shows isolated low and large platelets, normal RBC and WBC

Platelet dysfunction, mild thrombocytopenia with large platelets.
Prolonged bleeding time with significant mucocutaneous bleeding

Puertorican descent
oculocutaneous albinism, moderate severe bleeding.

Huge hemangiomas, with localized DIC and platelet destruction,

Hemophilia

Hemophilia Treament

Christmas Disease

Von Willebrand Dz
type 1: less Vwbf
type 2: vwbf doesn't work well
type 3: no vwbf activity at all

Normal PT
prolonged PTT
But no h/o clinical bleeding

normal PT
normal PTT
normal platelets
but still bleeding...??
Bleeding from Umb.cord, ICH, delayed wound healing

prolonged PT, prolonged PTT
Thrombocytopenia, hemolytic anemia
low fibrinogen, elevated D-dimer
Bleeding from everywhere

Hemorrhagic dz in a newborn
prolonged PT more than prolonged PTT