The Clinical Phenotypes of Alpha Thalassemia

Ashutosh Lal; Elliott Vichinsky

doi:10.1016/j.hoc.2022.12.004

The Clinical Phenotypes of Alpha Thalassemia

Hematol Oncol Clin North Am. 2023 Apr;37(2):327-339. doi: 10.1016/j.hoc.2022.12.004.

Authors

Ashutosh Lal¹, Elliott Vichinsky²

Affiliations

¹ UCSF School of Medicine, UCSF Benioff Children's Hospital, 747 52nd Street, Oakland, CA 94609, USA. Electronic address: Ashutosh.lal@ucsf.edu.
² UCSF School of Medicine, UCSF Benioff Children's Hospital, 747 52nd Street, Oakland, CA 94609, USA.

PMID: 36907606
DOI: 10.1016/j.hoc.2022.12.004

Abstract

Clinical manifestations of α-thalassemia range from no symptoms to severe transfusion-dependent anemia. Alpha thalassemia trait is deletion of 1 to 2 α-globin genes, whereas α-thalassemia major (ATM; Barts hydrops fetalis) is the deletion all 4 α genes. All other genotypes of intermediate severity are categorized as HbH disease, a vastly heterogenous group. Clinical spectrum is classified as mild, moderate, and severe by symptoms and need for intervention. Anemia in prenatal period may be fatal without intrauterine transfusions. New therapies to modify HbH disease or provide cure for ATM are under development.

Keywords: Alpha thalassemia trait; Hemoglobin H disease; Hydrops fetalis; Iron overload.

Publication types

Review
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Anemia*
Female
Genotype
Humans
Hydrops Fetalis / diagnosis
Phenotype
Pregnancy
alpha-Thalassemia* / diagnosis