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Normal Red Blood Cells


Normal Red Blood Cells

--Normal


RBC Underproduction (eg. anemia)


Anemia

--Microcytic (MCV <80)
----DDx: (Mneumonic "TICS")
------T: Thalassemia
------I: Iron Deficiency
------C: Chronic Disease anemia (sometimes)
------S: Sideroblastic anemia (e.g. Pb poisonin, etc.)
--Normocytic (MCV 80-100)
----DDx:
------Acute Blood Loss
------Sickle Cell Anemia
------Hemolytic Anemia
------Anemia of Chronic Disease (AKA Chronic Disease Anemia)
------Myelodysplastic Syndrome (sometimes)
--Macrocytic (MCV >100)
----DDx:
------B12 Deficiency
------Folate Deficiency
------Drug-induced (e.g. Methotrexate, etc.)
------Liver Disease
------Myelodysplastic Syndrome
------Marked Reticulocytosis

Red Blood Cell Overproduction


Red Blood Cell Overproduction

--Overproduction


Normal Adult Hemoglobin


Normal Adult Hemoglobin

--Predominantly HgbA (2 alpha globins , 2 beta globins)
----Normally ~ 97%
----Alpha Globin
------4 genes (2 per haploid chromosome)
----Beta Globin
------2 genes (1 per haploid chromosome)
------Decreased in or abnormal Globin chains
--Small amount of HgbA2 (2 alpha globins, 2 delta globins)
----Normally ~ 2%
--Extremely small amount of HgbF (2 alpha globins, 2 gamma globins)
----Normally Up to 1%
--Hemoglobin A1C (Glycated Hemoglobin)

Thalassemias


Thalassemias
(Decreased or absence of one of the hemoglobin chains, most commonly alpha or beta chain). Even though hemoglobin may be decreased, they are functionally normal.

--Alpha (Alpha decreased): Alpha Thalassemia
----1 gene muatated
------AKA "Silent Carrier"
------No Anemia nor microcytosis
------Normal Electropheresis
----2 genes mutated
------AKA "Alpha trait"
------Microcytosis & Anemia present
------Normal Electropheresis
----3 genes mutated
------AKA "Hemoglobin H"
------Excess Beta chains form tetramers
------Microcytosis & Anemia present
------Abnormal Electropheresis
----4 genes mutated
------Hydrops Fetalis (Lethal)
--Beta (Beta decreased): Beta Thalassemia
----2 genes mutated
------AKA "Beta Thal."
------Abnormal electropheresis
------Mostly HgbF
----1 gene mutated
------AKA "Beta trait"
------Abnormal electropheresis
------Increase in HgbA2 (3% to 6%)
------Must test in absence of Fe def.
--------Fe def. may lower HgbA2
--------Need Normal serum Ferritin
------May also have slight increase in HgbF

Hemoglobinopathies (Abnormal Hemoglobins)


Hemoglobinopathies
As oppose to thalassemia, hemoglobin chains are not decreased or absent but rather abnormal.

--HbS (Sickle cell)
----Mutation in Beta chain resulting in change from hydrophilic residue (Glutamate) to Hydrophobic residue (Valine)
------Sickle cell disease
------Sickle cell trait
----Mutation in Beta chain resulting in change from hydrophilic residue (Glutamate) to another Hydrophilic residue (Lysine)
------HbC
------HbE

Red Blood Cell Enzyme Deficiencies and Metabolic Disorders


Red Blood Cell Enzyme Deficiencies and Metabolic Disorders

--Topics


Normal White Blood Cells


Normal White Blood Cells

--Topics


Disorders of Granulocytes


Disorders of Granulocytes

--Topics


Disorders of Monocytes


Disorders of Monocytes

--Topics


Disorders of Lymphocytes


Disorders of Lymphocytes

--Topics


Normal Hemostasis


Normal Hemostasis

--Topics


Platelet/Platelet-like Disorders


Platelet/Platelet-like Disorders

--Topics


Coagulation Disorders


Coagulation Disorders

--Topics


Thrombotic Disorders


Thrombotic Disorders

--Topics