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Rare Association of Hb D-Los Angeles (HBB: c.364G>C) with Hb H Disease: Diagnosis and Clinical Implications

Aikaterini Zioga1, Eleni Thanopoulou2, Elissavet Hatzi2

  • 1a Child Health Department, Faculty of Medicine , University of Ioannina , Ioannina , Greece.

Hemoglobin
|January 11, 2019
PubMed

Hb D-Los Angeles (or Hb D-Punjab) (HBB: c.364G > C) is found worldwide and is derived from a point mutation in the β-globin gene prevalent in the Punjab region of Northwestern India. Heterozygous or homozygous inheritance does not cause significant medical problems, whereas association with other hemoglobinopathies, especially β-thalassemia (β-thal) and sickle cell disease, changes the phenotype. Coinheritance of Hb D-Los Angeles with Hb H disease (α-/- -) has never been reported before. The presence of this rare combination in a family of Greek origin is herein described, and the challenges involving clinical management are discussed.

Keywords:
Hb D-Los Angeles (: c.364G>C)α-Thalassemia (α-thal)

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