Loss of alpha-globin genes in human subjects is associated with improved nitric oxide-mediated vascular perfusion

Am J Hematol. 2021 Mar 1;96(3):277-281. doi: 10.1002/ajh.26058. Epub 2020 Dec 12.

Abstract

Alpha thalassemia is a hemoglobinopathy due to decreased production of the α-globin protein from loss of up to four α-globin genes, with one or two missing in the trait phenotype. Individuals with sickle cell disease who co-inherit the loss of one or two α-globin genes have been known to have reduced risk of morbid outcomes, but the underlying mechanism is unknown. While α-globin gene deletions affect sickle red cell deformability, the α-globin genes and protein are also present in the endothelial wall of human arterioles and participate in nitric oxide scavenging during vasoconstriction. Decreased production of α-globin due to α-thalassemia trait may thereby limit nitric oxide scavenging and promote vasodilation. To evaluate this potential mechanism, we performed flow-mediated dilation and microvascular post-occlusive reactive hyperemia in 27 human subjects (15 missing one or two α-globin genes and 12 healthy controls). Flow-mediated dilation was significantly higher in subjects with α-trait after controlling for age (P = .0357), but microvascular perfusion was not different between groups. As none of the subjects had anemia or hemolysis, the improvement in vascular function could be attributed to the difference in α-globin gene status. This may explain the beneficial effect of α-globin gene loss in sickle cell disease and suggests that α-globin gene status may play a role in other vascular diseases.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Anthropometry
  • Blood Pressure
  • Brachial Artery / pathology
  • Brachial Artery / physiopathology
  • Ethnicity / genetics
  • Female
  • Genotype
  • Hemorheology
  • Humans
  • Hyperemia / genetics*
  • Hyperemia / physiopathology
  • Laser-Doppler Flowmetry
  • Male
  • Microcirculation / physiology*
  • Middle Aged
  • Nitric Oxide / physiology*
  • Vasodilation / physiology*
  • Young Adult
  • alpha-Globins / deficiency*
  • alpha-Globins / genetics
  • alpha-Thalassemia / genetics
  • alpha-Thalassemia / physiopathology*

Substances

  • alpha-Globins
  • Nitric Oxide