Table 1.
Alpha Thalassemias | ||||||
---|---|---|---|---|---|---|
Chromosome 16 (both copies shown) | Genotype | RBC Indices |
Vascular Phenotype |
Classification | ||
HBZ | m | HBA-1 | ||||
========|z|===========|α|=======|α|====== | αα/αα | Normal | Normal | Normal | ||
========|z|===========|α|=======|α|====== | ||||||
========|z|===========|α|=============== | α-/αα | Normal | Moderate hypotension with potential compensation | Alpha thalassemia minima, also known as heterozygo sity for alpha (+) thalassemia, silent carrier of alpha thalassemia, and alpha thalassemia-2 trait | ||
========|z|===========|α|=======|α|====== | ||||||
========|z|===========|α|=============== | α-/α- or --/αα | Minimal anemia, decreased MCV and MCH | Moderate hypotension | Alpha thalassemia minor, also known as alpha thalassemia-1 trait (Due to homozygosity for alpha (+) thalassemia (α-/α-) or heterozygo sity for alpha (0) thalassemia (--/αα)) | ||
========|z|===========|α|=============== | ||||||
or | ||||||
========|z|============================ | ||||||
========|z|===========|α|=======|α|====== | ||||||
========|z|===========|α|=============== | α-/-- | Hemolytic anemia with the formation of P-chain tetramers | None documented | Hemoglobin H (HbH) disease | ||
========|z|============================ | ||||||
========|z|============================= | -/-- | Severe anemia due to formation of gamma-4 tetramers (hemoglobin Bart’s) | Hydrops fetalis with increased cerebral blood flow | Hydrops fetalis syndrome with hemoglobin Bart’s | ||
========|z|============================ |