Shokr, Hala, Marwah, Mandeep Kaur, Siddiqi, Hisam, Wright, Christine and Marwah, Sukhjinder (2024). Homozygous Delta-Beta Thalassaemia With Alpha Thalassaemia and Erythrocytosis- a Rare Case Report. British Journal of Biomedical Science, 81 ,
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.
| Publication DOI: | https://doi.org/10.3389/bjbs.2024.13663 |
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| Divisions: | College of Health & Life Sciences > Aston Medical School College of Health & Life Sciences Aston University (General) |
| Funding Information: | The author(s) declare that no financial support was received for the research, authorship, and/or publication of this article. |
| Additional Information: | 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. |
| Uncontrolled 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 |
| Publication ISSN: | 2474-0896 |
| 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 sukhjinder.marwah@nhs.net. |
| Last Modified: | 22 Apr 2025 07:19 |
| Date Deposited: | 20 Dec 2024 12:54 |
| Full Text Link: | |
| Related URLs: |
https://www.fro ... 2024.13663/full
(Publisher URL) |
PURE Output Type: | Article |
| Published Date: | 2024-11-21 |
| Published Online Date: | 2024-11-21 |
| Accepted Date: | 2024-10-30 |
| Authors: |
Shokr, Hala
Marwah, Mandeep Kaur ( 
0000-0003-4881-003X)
Siddiqi, Hisam Wright, Christine Marwah, Sukhjinder |