HEMOGLOBINOPATHIES

Hemoglobin Structure
 Each hemoglobin is composed of a tetramer globin polypeptide
chain: pair of α-like chains (141 aa) and β-like chains (146 aa).
 Globin chain synthesis is directed by 8 genetic loci which produce
7 different globin types.
o Encoded by two tightly linked gene clusters:
 Chromosome 11: α-like globin genes
 2 (loci) α-globin (α1, α2) genes and 1 ζ-globin gene
 Chromosome 16: non-α-like globin genes
 1 ε-globin, 2 γ-globin (γG, γA), 1 δ-globin, 1 β-globin
 The non-α-like globin genes are arranged in linear fashion
in order of activation.

o

o HbE Gower I: primary embryonic hemoglobin, relatively
unstable, present only in embryonic life.
o HbE Gower II:
o HbE Major adult Hb: HbA (α2β2)
o
 Major adult Hb: HbA (α2β2)