Manifestations of HbSE sickle cell disease: a systematic review
<h3>Background</h3><p dir="ltr">Sickle cell disease (SCD) is commonly encountered in Africa and Middle Eastern countries. The causative mutation in the gene encoding the hemoglobin subunit β (HBB) leads to various genotypic variants of the disease. This results in varied...
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| مؤلفون آخرون: | , , , , |
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2022
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| _version_ | 1864513566580670464 |
|---|---|
| author | Ibrahim Khamees (14153301) |
| author2 | Fateen Ata (12217764) Hassan Choudry (12217767) Ashraf T. Soliman (12217776) Vincenzo De Sanctis (12217779) Mohamed A. Yassin (8361183) |
| author2_role | author author author author author |
| author_facet | Ibrahim Khamees (14153301) Fateen Ata (12217764) Hassan Choudry (12217767) Ashraf T. Soliman (12217776) Vincenzo De Sanctis (12217779) Mohamed A. Yassin (8361183) |
| author_role | author |
| dc.creator.none.fl_str_mv | Ibrahim Khamees (14153301) Fateen Ata (12217764) Hassan Choudry (12217767) Ashraf T. Soliman (12217776) Vincenzo De Sanctis (12217779) Mohamed A. Yassin (8361183) |
| dc.date.none.fl_str_mv | 2022-11-22T21:18:09Z |
| dc.identifier.none.fl_str_mv | 10.1186/s12967-021-02931-1 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Manifestations_of_HbSE_sickle_cell_disease_a_systematic_review/21598458 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Cardiovascular medicine and haematology Health sciences Public health Sickle cell disease SCD Hemoglobin SE HBSE Sickle genotype |
| dc.title.none.fl_str_mv | Manifestations of HbSE sickle cell disease: a systematic review |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <h3>Background</h3><p dir="ltr">Sickle cell disease (SCD) is commonly encountered in Africa and Middle Eastern countries. The causative mutation in the gene encoding the hemoglobin subunit β (HBB) leads to various genotypic variants of the disease. This results in varied phenotypes, with a spectrum of complications, from benign to fatal. Hemoglobin SS (HBSS) genotype is associated with most of these complications; hence, it is a severe form of SCD. On the other hand, rare genotypes such as hemoglobin SE (HBSE) are considered benign. There is limited literature about the clinical manifestations and characteristics of patients with HBSE. We pooled all available data describing the phenotypic manifestations of HBSE heterozygote worldwide to perform a systematic review.</p><h3>Methods</h3><p dir="ltr">We performed a systematic review according to PRISMA guidelines using PubMed, SCOPUS, and Google Scholar databases. Two independent reviewers (FA and IK) evaluated studies for eligibility and extracted data. We synthesized data on demographics, manifestations, and management of HBSE disease. PROSPERO Registration Number: CRD42021229877.</p><h3>Results</h3><p dir="ltr">We found 68 HBSE patients reported in the literature. 24 cases were extracted from case reports whereas 44 cases from case series and retrospective studies. Turkey reported the highest number of patients (n = 22). 32 (47%) of the patients were males. The mean age was 20.9 ± 18.26 years. The mean HBS and HBE percentages were 61.1% ± 7.25% and 32.3% ± 5.06%, respectively, whereas the mean hemoglobin was 11.64 ± 1.73 g/dl. Reported manifestations of HBSE disease included acute vaso-occlusive pain crisis (n = 22, 32.3%), splenomegaly (n = 11, 16.1%), hemolytic anemia (n = 10, 14.7%), infections (n = 8. 11.7%), bone infarction (n = 4, 5.8%), gallstones (n = 3, 4.4%), venous thromboembolism (VTE) (n = 2, 2.9%) and stroke (n = 2, 2.9%), and hematuria (n = 2, 2.9%). Death due to HBSE complications was reported in three patients.</p><h3>Conclusion</h3><p dir="ltr">HBSE is a rare genotypic variant of SCD. It has been considered a benign form; however, there are multiple reports of severe complications. Severe complications observed in HBSE disease include vaso-occlusive crisis, acute chest syndrome, stroke, bone marrow embolism, and death.</p><h2>Other Information</h2><p dir="ltr">Published in: Journal of Translational Medicine<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="http://dx.doi.org/10.1186/s12967-021-02931-1" target="_blank">http://dx.doi.org/10.1186/s12967-021-02931-1</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_c6941ab2e07db2a4e624d6f135fcf6ea |
| identifier_str_mv | 10.1186/s12967-021-02931-1 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/21598458 |
| publishDate | 2022 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Manifestations of HbSE sickle cell disease: a systematic reviewIbrahim Khamees (14153301)Fateen Ata (12217764)Hassan Choudry (12217767)Ashraf T. Soliman (12217776)Vincenzo De Sanctis (12217779)Mohamed A. Yassin (8361183)Biological sciencesGeneticsBiomedical and clinical sciencesCardiovascular medicine and haematologyHealth sciencesPublic healthSickle cell diseaseSCDHemoglobin SEHBSESickle genotype<h3>Background</h3><p dir="ltr">Sickle cell disease (SCD) is commonly encountered in Africa and Middle Eastern countries. The causative mutation in the gene encoding the hemoglobin subunit β (HBB) leads to various genotypic variants of the disease. This results in varied phenotypes, with a spectrum of complications, from benign to fatal. Hemoglobin SS (HBSS) genotype is associated with most of these complications; hence, it is a severe form of SCD. On the other hand, rare genotypes such as hemoglobin SE (HBSE) are considered benign. There is limited literature about the clinical manifestations and characteristics of patients with HBSE. We pooled all available data describing the phenotypic manifestations of HBSE heterozygote worldwide to perform a systematic review.</p><h3>Methods</h3><p dir="ltr">We performed a systematic review according to PRISMA guidelines using PubMed, SCOPUS, and Google Scholar databases. Two independent reviewers (FA and IK) evaluated studies for eligibility and extracted data. We synthesized data on demographics, manifestations, and management of HBSE disease. PROSPERO Registration Number: CRD42021229877.</p><h3>Results</h3><p dir="ltr">We found 68 HBSE patients reported in the literature. 24 cases were extracted from case reports whereas 44 cases from case series and retrospective studies. Turkey reported the highest number of patients (n = 22). 32 (47%) of the patients were males. The mean age was 20.9 ± 18.26 years. The mean HBS and HBE percentages were 61.1% ± 7.25% and 32.3% ± 5.06%, respectively, whereas the mean hemoglobin was 11.64 ± 1.73 g/dl. Reported manifestations of HBSE disease included acute vaso-occlusive pain crisis (n = 22, 32.3%), splenomegaly (n = 11, 16.1%), hemolytic anemia (n = 10, 14.7%), infections (n = 8. 11.7%), bone infarction (n = 4, 5.8%), gallstones (n = 3, 4.4%), venous thromboembolism (VTE) (n = 2, 2.9%) and stroke (n = 2, 2.9%), and hematuria (n = 2, 2.9%). Death due to HBSE complications was reported in three patients.</p><h3>Conclusion</h3><p dir="ltr">HBSE is a rare genotypic variant of SCD. It has been considered a benign form; however, there are multiple reports of severe complications. Severe complications observed in HBSE disease include vaso-occlusive crisis, acute chest syndrome, stroke, bone marrow embolism, and death.</p><h2>Other Information</h2><p dir="ltr">Published in: Journal of Translational Medicine<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="http://dx.doi.org/10.1186/s12967-021-02931-1" target="_blank">http://dx.doi.org/10.1186/s12967-021-02931-1</a></p>2022-11-22T21:18:09ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1186/s12967-021-02931-1https://figshare.com/articles/journal_contribution/Manifestations_of_HbSE_sickle_cell_disease_a_systematic_review/21598458CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/215984582022-11-22T21:18:09Z |
| spellingShingle | Manifestations of HbSE sickle cell disease: a systematic review Ibrahim Khamees (14153301) Biological sciences Genetics Biomedical and clinical sciences Cardiovascular medicine and haematology Health sciences Public health Sickle cell disease SCD Hemoglobin SE HBSE Sickle genotype |
| status_str | publishedVersion |
| title | Manifestations of HbSE sickle cell disease: a systematic review |
| title_full | Manifestations of HbSE sickle cell disease: a systematic review |
| title_fullStr | Manifestations of HbSE sickle cell disease: a systematic review |
| title_full_unstemmed | Manifestations of HbSE sickle cell disease: a systematic review |
| title_short | Manifestations of HbSE sickle cell disease: a systematic review |
| title_sort | Manifestations of HbSE sickle cell disease: a systematic review |
| topic | Biological sciences Genetics Biomedical and clinical sciences Cardiovascular medicine and haematology Health sciences Public health Sickle cell disease SCD Hemoglobin SE HBSE Sickle genotype |