Diagnosis and clinical relevance of co-inheritance of haemoglobin D-Punjab/β+-thalassemia traits in an immigrant Afghan family

J Clin Pathol. 2022 Dec;75(12):861-864. doi: 10.1136/jclinpath-2021-208009. Epub 2022 Jan 17.

Abstract

We report on a Pashtun family affected by haemoglobin D-Punjab/β+-thalassemia to increase the awareness of the increasing prevalence of haemoglobinopathies among primary care physicians. We highlight the diagnostic approach of these conditions and the benefits of genetic counselling.

Keywords: diagnostic techniques and procedures; hemoglobinopathies; thalassemia.

MeSH terms

  • Databases, Genetic
  • Emigrants and Immigrants*
  • Hemoglobinopathies* / diagnosis
  • Hemoglobinopathies* / genetics
  • Hemoglobins, Abnormal* / genetics
  • Humans
  • beta-Thalassemia* / diagnosis
  • beta-Thalassemia* / epidemiology
  • beta-Thalassemia* / genetics

Substances

  • hemoglobin D
  • Hemoglobins, Abnormal