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alpha thalassemia-0 (homozygous alpha thalassemia)
Pathology:
1) predominant fetal hemoglobin is a hemoglobin Barts that has essentially no oxygen carrying capacity
2) this causes oxygen starvation in the fetal tissues leading to prenatal lethality or early neonatal death (nonimmune hydrops fetalis)
Genetics:
- 0 of 4 functional alpha globin genes
Laboratory:
- complete blood count
- anemia
- microcytosis
- hemoglobin electrophoresis: hemoglobin Barts (100%)
References
- Saunders Manual of Medical Practice, Rakel (ed),
WB Saunders, Philadelphia, 1996, pg 585-86
- Harrison's Principles of Internal Medicine, 14th ed.
Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 651