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Deans-Louis, Etienne, Allen, Angie and Allen, Stephen 
ORCID: https://orcid.org/0000-0001-6675-249X
(2024)
'Cascade testing effectively identifies undiagnosed Sickle
Cell Disease in The Gambia: a quality improvement project'. Archives of Disease in Childhood.
(In Press)
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archdischild-2024-327311.full.pdf - Published Version Available under License Creative Commons Attribution Non-commercial. Download (314kB) | Preview |
Abstract
Objective
Sickle cell disease (SCD) has a high mortality during childhood in many low and middle-income countries (LMICs). Early diagnosis improves outcomes but newborn screening is not well established in LMICs. Cascade testing may be feasible and effective in identifying undiagnosed SCD and carriers of haemoglobin (Hb) S.
Design
Quality improvement project using existing clinic and laboratory resources.
Setting
The Haematology Clinic at the Edward Francis Small Teaching Hospital, Banjul, The Gambia.
Participants
Families of index cases with SCD.
Methods
Hb phenotype was determined in full or half-siblings of a SCD index case over a 6-week period using the HemoTypeSC test and confirmed by Hb electrophoresis.
Main outcome measure
Identifying undiagnosed SCD.
Results
Of 102 families invited, 31 (30%) attended during the study period and 53 siblings were tested. Except for one indeterminate test, HemoType SC agreed with Hb electrophoresis. Ten (19%; 95% CI 10 to 32) siblings were diagnosed with HbSS, 25 (47%; 34 to 60) as carriers (HbAS) and 18 (34%; 23 to 48) were unaffected (HbAA). Some symptoms and signs of SCD occurred significantly more frequently in HbSS than in HbAA and HbAS, but none was sufficiently common to help in identifying children for testing.
Conclusions
Cascade testing was effective in identifying undiagnosed HbSS as well as children carrying the sickle cell gene. In routine care settings in LMICs, cascade testing facilitated by point-of-care tests may be feasible and affordable in increasing the detection of SCD and improving outcomes through earlier diagnosis.
| Item Type: | Article |
|---|---|
| Subjects: | QY Clinical Pathology > Blood. Blood Chemistry > QY 400 General works WH Hemic and Lymphatic Systems > Hematologic Diseases. Immunologic Factors. Blood Banks > WH 170 Hemolytic anemia (e.g., Sickle cell anemia) |
| Faculty: Department: | Clinical Sciences & International Health > Clinical Sciences Department |
| Digital Object Identifer (DOI): | https://doi.org/10.1136/archdischild-2024-327311 |
| Depositing User: | Jane Rawlinson |
| Date Deposited: | 06 Nov 2024 12:00 |
| Last Modified: | 06 Nov 2024 12:00 |
| URI: | https://archive.lstmed.ac.uk/id/eprint/25452 |
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