Homozygous Delta-Beta Thalassaemia With Alpha Thalassaemia and Erythrocytosis- a Rare Case Report

Hala Shokr, Mandeep Kaur Marwah, Hisam Siddiqi, Christine Wright, Sukhjinder Marwah*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

In this report, we describe a case of homozygous delta-beta (δβ) thalassaemia, a rare genetic disorder characterized by severe deficiency in delta (δ) and beta (β)-globin chain production, leading to ineffective erythropoiesis and chronic haemolytic anaemia. The patient, a 26-year-old female with δβ-thalassaemia, experienced a miscarriage. High-performance liquid chromatography revealed 89.5% foetal haemoglobin (HbF) and 14.4% glycated HbF. Sebia capillary electrophoresis showed haemoglobin peak of 97.2% and 2.8%. Kleihauer Bekte test indicated a pancellular pattern of foetal cells, while morphology analysis demonstrated microcytic, hypochromic red cells and target cells. Gene analysis confirmed compound heterozygosity for two large deletions in the β-globin gene cluster.
Original languageEnglish
Article number13663
Number of pages5
JournalBritish Journal of Biomedical Science
Volume81
Early online date21 Nov 2024
DOIs
Publication statusPublished - 21 Nov 2024

Bibliographical note

Copyright © 2024 Shokr, Marwah, Siddiqi, Wright and Marwah. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

Data Access Statement

The data analyzed in this study is subject to the following licenses/restrictions: The collected data cannot be disclosed owing to the confidentiality of patient information. Requests to access these datasets should be directed to [email protected].

Keywords

  • Fetal Hemoglobin - genetics
  • delta-Thalassemia - genetics - blood
  • thalassemia
  • Female
  • Pregnancy
  • inherited blood disorders
  • Polycythemia - genetics - blood
  • Homozygote
  • RBC indices
  • delta-beta thalassemia
  • beta-Globins - genetics
  • foetal haemoglobin
  • beta-Thalassemia - genetics - blood
  • Humans
  • Adult
  • alpha-Thalassemia - genetics - blood

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