Molecular basis of Hb H and AEBart's diseases in the Lao People's Democratic Republic

Int J Lab Hematol. 2020 Feb;42(1):23-27. doi: 10.1111/ijlh.13118. Epub 2019 Nov 6.

Abstract

Introduction: As compared to other neighboring countries, limited information on α-thalassemia diseases is available for Lao PDR. We reported for the first time a genetic diversity associated with Hb H and AEBart's diseases in Laos patients.

Methods: Study was done on Laos patients with Hb H disease (n = 14) and AEBart's disease (n = 14) whose blood specimens were transferred to our laboratory for the investigation of thalassemia. Hematological parameters were recorded. Hb analysis was done using a capillary electrophoresis system. α- and β-globin genotypes were determined using PCR and related techniques.

Results: Hb and DNA analyses identified Hb H disease resulted from [--SEA /-α3.7 , βAA ] (n = 7), [--THAI /-α3.7 , βAA ] (n = 1), Hb H-Constant Spring (CS) disease (--SEACS α, βAA ; n = 5), and Hb H-IVSI-117 (--SEA /ααIVSI-117G>A , βAA ; n = 1). For those of the AEBart's disease (n = 14), five were found to be AEBart's-CS disease [--SEACS α, βEA ], two had [--THAICS α, βEA ] genotype, six had AEBart's disease with (--SEA /-α3.7 , βEA ) genotype, and the remaining one was a patient with AEBart's-Pakse' [--SEAPS α, βEA ] disease. These --THAI and αIVSI-117G>A mutations are reported herein for the first time in Laos population. Accurate diagnosis in most cases was obtained after DNA analysis.

Conclusions: This study demonstrates the diverse heterogeneity and highlights the importance of molecular diagnosis of α-thalassemia diseases in Laos population. Data on the molecular basis of α-thalassemia should prove useful for setting up a molecular diagnostic testing for thalassemia in Laos and further hemoglobin genetic study in the region.

Keywords: AEBart's disease; Hb H disease; Laos; molecular diagnostics; thalassemia.

Publication types

  • Clinical Trial

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Female
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Infant
  • Laos / epidemiology
  • Male
  • alpha-Globins / genetics*
  • alpha-Thalassemia / epidemiology
  • alpha-Thalassemia / genetics*
  • beta-Globins / genetics*

Substances

  • Hemoglobins, Abnormal
  • alpha-Globins
  • beta-Globins