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Hemoglobin. 2019 Jan 9:1-3. doi: 10.1080/03630269.2018.1558066. [Epub ahead of print]

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

Author information

1
a Child Health Department, Faculty of Medicine , University of Ioannina , Ioannina , Greece.
2
b Genetics and IVF Unit, Department of Obstetrics and Gynecology, Faculty of Medicine , University of Ioannina , Ioannina , Greece.

Abstract

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 (HBB: c.364G>C); α-Thalassemia (α-thal)

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