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Hemoglobinopathies (Quantitative (Thalassemias (Types (Alpha (1 defect…
Hemoglobinopathies
Quantitative
Thalassemias
caused by
unequal production of globin proteins
Types
Alpha
1 defect
Silent Carrier
No symptoms
2 defects
Alpha-Thalassemia trait
No symptoms
3 defects
Hemoglobin H disease
Anemia of variable severity
4 defects
Hemoglobin Bart disease
fetal death
Beta
1 defect
Beta-Thalassemia trait
no symptoms
2 defects
Beta-Thalassemia major
Cooley Anemia
Qualitative
Types
Hemoglobin C disease
Caused by
Mutation in Beta Globin (Glutamine and position six to Leucine)
Results in
Mild, chronic hemolytic anemia
Treatment
Blood Transfusions
Hemoglobin S disease (Sickle Cell)
caused by
Mutation in Beta Globin (Position 6 Glutamate to Valine)
results in
Symptoms
Crises (Pain)
Stroke
Acute Chest Syndrome
Renal/Spleen Damage
HbS molecules form polyerms
Polymers precipitate
RBCs become stiff and malformed
treatment is
rehydration
Analgesics
Transfusions
Antibiotics
Hemoglobin SC disease
Caused by
Pt with both HbS and HbC genes
Results in
Significant clinical variability
treatment is
depends
Methemoglobinemia
Caused by
Oxidation of Fe2+ into Fe3+
from
Chemicals (i.e nitrates)
Endogenous products (i.e. peroxides)
Genetic defects/deficiencies (NADH-cytochrome B5 reductase)
Results in
Chocolate colored blood
dyspnea
anxiety
HA
Coma
Blue Skin
Treatment is
Methylene blue