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Introduction:
Epidemiology:
Etiology:
Pathogenesis:
Types α thalassemia
Genotype | Phenotype | Hematological findings | Severity | Hemoglobin patterns |
-α/ αα | Silent carrier | Normal or slight reticulocytosis | Normal | Normal |
-α/ -α | α thalassemia trait | Mild anemia, microcytic hypochromic RBCs, target cells, basophilic stippling, poikilocytosis | Mild to moderate | Newborns- HbBarts Adults- Normal or some HbH |
--/ αα | ||||
--/ -α | Hemoglobin H disease | Moderate to marked anemia, microcytic hypochromic RBCs, target cells, basophilic stippling, poikilocytosis | Chronic, moderately severe hemolytic anemia, Splenomegaly | Newborns- HbBarts Adults- HbH |
--/ -- | Hydropsfetalis with Hemoglobin Barts | Marked anemia, macrocytic hypochromic RBCs, marked Anisopoikilocytosis, numerous NRBC | Fatal | HbBarts Hb Portland |
Investigations:
Treatment: Only HbH disease must be treated. Treatment is similar to beta thalassemia major/ intermedia
Related Disorders:
Figures:
Figure 8.13.1- Alpha thalassemia trait- Peripheral smear
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