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Hemoglobin
international journal for hemoglobin research
Volume 42, 2018 - Issue 5-6
178
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Short Communication

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

, , , , &
Pages 336-338 | Received 11 Nov 2018, Accepted 29 Nov 2018, Published online: 09 Jan 2019
 

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.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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