AUTHOR=Shokr Hala , Marwah Mandeep Kaur , Siddiqi Hisam , Wright Christine , Marwah Sukhjinder TITLE=Homozygous Delta-Beta Thalassaemia With Alpha Thalassaemia and Erythrocytosis- a Rare Case Report JOURNAL=British Journal of Biomedical Science VOLUME=81 YEAR=2024 URL=https://www.frontierspartnerships.org/journals/british-journal-of-biomedical-science/articles/10.3389/bjbs.2024.13663 DOI=10.3389/bjbs.2024.13663 ISSN=2474-0896 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.