Profiling
Symptoms
Take A PIC
Switched at Birth
What you got in those Genes
100

A protein that is mainly produced by the liver. Its main function is to transport iron.

Tranferrin

100

Failure to thrive

Change in facial structures

Enlarged Spleen

Beta Thalassemia Major

100

30% to 100% elliptical cells 

fragmented cells

Common hereditary elliptocytosis 

Mild

100

Lysine substituted for the glutamine

hemoglobin C disease

100

  • Hemoglobin A approximately 60%

  • Hemoglobin S approximately 40%

Sickle Cell Trait

200

A protein that stores iron in your body.

Ferritin

200

Fever, nausea, and abdominal pain follow after ingesting broad beans

Favism

200

Crystals in PS (bars of gold)

Hemoglobin C Disease

200

Normal levels of _____________ switched to a deficit is associated with Heriditary Spherocytosis

Spectrin

200

  • Band 3 molecular defect

  • Red cells are spoon shaped

Southeast Asian Ovalocytosis

300

Measurement of the blood's capacity to bind iron with transferrin.

Total Iron-Binding Capacity (TIBC)

300

Chronic fatigue and weakness

 Impotence

 Cardiac arrhythmias 

Hair loss

Hereditary Hemochromatosis (HH)

300

  • ↓ Red count

  • ↓ Hemoglobin

  • ↓ Hematocrit

  • ↓ MCV (microcytic)

  • ↓ MCHC (hypochromic)

  • ↑ RDW

IDA

300

Valine Substituted for the glutamine

Sickle Cell anemia

300

Rare recessive disorder in African Americans

 

Cells crenate and hemolyze at 46 degrees Celsius

Hereditary Pyropoikilocytosis

400

The percentage of transferrin that is bound to iron.

Transferrin saturation

400

Hypersegmented neutrophils

 Macro-ovalocytes 

Teardrop cells

Megaloblastic anemia 

Folic acid deficiency

400

  • Dimorphism

  • Pappenheimer bodies

Sideroblastic Anemia

400

  • N A D P → N A D P H 

  • Oxidized glutathione is then converted to reduced glutathione

  • Glucose-6-Phosphate Dehydrogenase Deficiency (G 6 P D)

400

Rare autosomal recessive disorder 

Thrombocytopenia and leukopenia 

  • ↑ Hemoglobin F


    • Short life span; mean survival = 16 years

Fanconi’s Anemia (F A)

500

How do you calculate tranferrin Saturation

(serum iron/TIBC) X 100

500

Complete absence of alpha chains

No hemoglobin A or F

Bart's Hydrops fetalils

500

Asynchrony of the N:C Ratio

Basophilic Cytoplasm

RBC Precursors larger than Normal

Megaloblastic Anemia

500

Thymidine triphosphate (TTP) switched with deoxyuridine triphosphate leads to 

cell division and nuclear maturation are impaired 

Megaloblastic Anemia

500

  • Two bands present on electrophoresis: one at hemoglobin S (50%) and one at hemoglobin A2

Hemoglobin S-Beta Thalassemia

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