Heme

Question 1

Hemoglobin Types
HbA
HbF
HbA2

Answer 1

HbA is the normal type of hemoglobin and it contains 2 alpha and 2 beta.
HbF: 2 alpha and 2 gamma
At birth 70% is Hbf due to increase in beta chains and decrease in gamma chains
HbA2 - alpha 2 s 2

Erythropoesis occurs in the liver of the fetus and then bonemarrow for every one else.

Question 2

Physiologic Nadir

Answer 2

8-12 weeks; secondary to increased oxygen and decreased Epo production

Question 3

HbH

Answer 3

Tetramers of Beta 4 which is seen in alpha thall

Question 4

Alpha Thall

Answer 4

There are 4 alpha genes therefore, there are 4 types of alpha thall

Alpha thall trait: 2/4. Decreased mcv, normal electrophoresis.

1/4 Major - 2 types (Asian homozyg and African heterozyg)
HbH predominant Hb 7-100 Heinz bodies and splenomegally

0/4 - Barts only and death

Question 5

Beta Thall

Answer 5

2 genes
Beta Trait 1/2. Electrophoresis shows increased hba2 or hbF increased (5-7%; 1-2% respectively)
Major: Cooley anemia 95% HbF severe anemia, iron overload increased bone marrow production therefore frontal bossing.

Question 6

Diamond Black Fan Anemia

Answer 6

Congenital Pure Red Cell Aplasia
HbF Elevaed

Anemia with decreased retics and decreased erythroid precursors

50% have congenital abnormalities:
Craniofacial, thumb and upper limb, heart

Increased risk of leukemia and other malignancies

Treatment: Steroids and Transfusions

Question 7

TEC

Answer 7

Transient Erythopblastopenia of Childhood
Usually presents in children >12 months of age [1-3 years] (as compared to DBS).
Usually in response to a viral trigger and spontaneous recovery in 1-2 months.

Question 8

Sickle Cell Disease
Diagnosis
Complications
Prevention

Answer 8

SS, SC or S-beta thall
It is a qualitative defect.
You can not use the sickle dex to diagnose prior to 3 months due to the presence of HbF.
Dx: Electrophoresis or DNA testing

Acute Complications: Acute Chest Crisis, Splenic sequestration, Stroke, Infection, Pain crisis

Prevention: Penicillin prophylaxis until 5 years of age (and immunizations), Hydroxyurea

Question 9

Transfusion Indications in Sickle Cell

Answer 9

Aplastic Crisis
Splenic Sequestration
Stroke (awaiting Exchange Transfusion)
ACS

Question 10

Fanconi Anemia

Answer 10

AR - Chromosomal Fragility 
Thumb and Hip Abnormalities
Dysmorphic
Cafe Au Lait Macules 
Horseshoe kidney
short stature

Question 11

TAR

Answer 11

Thrombocytopenia absent Radii Syndrome:
Although there is an absent radius, there still ends up being the presence of a thumb.
there are no megakaryocytes found in bone marrow.
Usually self resolving around 3 years of age.

Question 12

Thromboembolic Disorders

2 Numbers, 2 letters and 1 weirdo

Answer 12

Anti thrombin III, Prothrombin
Protein C, Protein S
Factor V leidin

Antiphospholipid and homocystinuria