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. Author manuscript; available in PMC: 2015 Aug 1.
Published in final edited form as: Free Radic Biol Med. 2014 May 14;0:136–142. doi: 10.1016/j.freeradbiomed.2014.04.019

Table 1.

Chromosome 16 contains two identical coding sequences for hemoglobin alpha, hemoglobin alpha 2 and hemoglobin alpha 1 (shown here in reference to the zetaglobin gene, which is also located on chromosome 16). Deletions/non-functional mutations are depicted by the absence of a corresponding box. Genotype, red blood cell (RBC) indices, vascular phenotype with relation to blood pressure, and medical classification of the various alpha thalassemia’s are also listed8,10,44,74.

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|============================