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Transient leukaemia of down syndrome in the Western Cape and outcome of cases at Tygerberg Hospital, South Africa.
Thesis (MMed)--Stellenbosch University, 2021.
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| Format: | Thesis |
| Language: | en_ZA |
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Stellenbosch : Stellenbosch University
2022
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| _version_ | 1867613964389580800 |
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| access_status_str | Open Access |
| author | Mathure, Muhammad Wakeel |
| author2 | Van Zyl, Anel |
| author_browse | Mathure, Muhammad Wakeel Van Zyl, Anel |
| author_facet | Van Zyl, Anel Mathure, Muhammad Wakeel |
| author_sort | Mathure, Muhammad Wakeel |
| collection | Thesis |
| dc_rights_str_mv | Stellenbosch University |
| description | Thesis (MMed)--Stellenbosch University, 2021. |
| format | Thesis |
| id | oai:scholar.sun.ac.za:10019.1/125068 |
| institution | Stellenbosch University (South Africa) |
| language | en_ZA |
| last_indexed | 2026-06-10T12:44:30.757Z |
| license_str | Other — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from SUNScholar — Stellenbosch University Repository |
| publishDate | 2022 |
| publishDateRange | 2022 |
| publishDateSort | 2022 |
| publisher | Stellenbosch : Stellenbosch University |
| publisherStr | Stellenbosch : Stellenbosch University |
| record_format | dspace |
| source_str | SUNScholar — Stellenbosch University Repository |
| spelling | oai:scholar.sun.ac.za:10019.1/125068 Transient leukaemia of down syndrome in the Western Cape and outcome of cases at Tygerberg Hospital, South Africa. Mathure, Muhammad Wakeel Van Zyl, Anel Kruger, Mariana Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Paediatrics and Child Health. Down syndrome -- South Africa Leukemia -- South Africa Genetic disorders in children -- South Africa Public health -- South Africa UCTD Thesis (MMed)--Stellenbosch University, 2021. ENGLISH ABSTRACT: Introduction Down syndrome (DS) is a common genetic disorder; 35% of children with DS will develop Transient Leukaemia of Down Syndrome (TL-DS). Most TL-DS cases resolve spontaneously but carry a risk of subsequent development of myeloid leukaemia. Alternatively, TL-DS may lead to significant morbidity or death. The prevalence of TL-DS in the Western Cape public health sector is unknown. Aim This study investigated the prevalence of TL-DS in the public sector in the Western Cape and documented the clinical and laboratory features and outcome of TL-DS cases at Tygerberg hospital over a 12-year period (2007 to 2018). Methods DS patients were retrospectively identified using diagnostic National Health Laboratory Services genetics data. The number, type and timing of any haematological tests done for babies with DS in the first six months of life were recorded. TL-DS cases were identified using a blast threshold of 10% in the first week of life. Clinical data, management and outcome of TL-DS cases at Tygerberg Hospital was recorded. Results There were 685 children born with DS in the public sector of whom eight had TL-DS. Only 34% (n=232) of infants had an FBC done in the first month of life and only 11.7% had a differential count and smear done. From the second until the sixth month of life, only 18% had haematological tests requested. The crude prevalence of TL-DS in the Western Cape was 1.1% but the true prevalence could not be determined due to limited access to children born in the private sector. All three cases who were managed at Tygerberg hospital had favourable outcomes. None required chemotherapy. Stellenbosch University https://scholar.sun.ac.za Page 5 of 20 Conclusions Screening for TL-DS in babies with DS was inadequate in the Western Cape public health sector. The crude prevalence of TL-DS was lower compared to other published reports; most likely due to inadequate screening and underdiagnosis. All three cases of TL-DS at Tygerberg hospital had spontaneous resolution. Babies with suspected or proven DS should have standard recommended laboratory screening tests in the first three days of life to determine the true prevalence of TL-DS and data from the private sector should be included. AFRIKAANSE OPSOMMING: Geen opsomming beskikbaar. Masters 2022-03-05T11:39:34Z 2022-04-29T12:52:35Z 2022-09-05T03:00:11Z 2021-12 Thesis http://hdl.handle.net/10019.1/125068 en_ZA Stellenbosch University application/pdf Stellenbosch : Stellenbosch University |
| spellingShingle | Down syndrome -- South Africa Leukemia -- South Africa Genetic disorders in children -- South Africa Public health -- South Africa UCTD Mathure, Muhammad Wakeel Transient leukaemia of down syndrome in the Western Cape and outcome of cases at Tygerberg Hospital, South Africa. |
| title | Transient leukaemia of down syndrome in the Western Cape and outcome of cases at Tygerberg Hospital, South Africa. |
| title_full | Transient leukaemia of down syndrome in the Western Cape and outcome of cases at Tygerberg Hospital, South Africa. |
| title_fullStr | Transient leukaemia of down syndrome in the Western Cape and outcome of cases at Tygerberg Hospital, South Africa. |
| title_full_unstemmed | Transient leukaemia of down syndrome in the Western Cape and outcome of cases at Tygerberg Hospital, South Africa. |
| title_short | Transient leukaemia of down syndrome in the Western Cape and outcome of cases at Tygerberg Hospital, South Africa. |
| title_sort | transient leukaemia of down syndrome in the western cape and outcome of cases at tygerberg hospital south africa |
| topic | Down syndrome -- South Africa Leukemia -- South Africa Genetic disorders in children -- South Africa Public health -- South Africa UCTD |
| url | http://hdl.handle.net/10019.1/125068 |
| work_keys_str_mv | AT mathuremuhammadwakeel transientleukaemiaofdownsyndromeinthewesterncapeandoutcomeofcasesattygerberghospitalsouthafrica |