Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the <i>CYB5R</i> Gene in the State of Qatar: A Case Report
<p dir="ltr">Methemoglobinemia (MetHb) is a rare hematological condition characterized by high methemoglobin levels in the blood. It happens when hemoglobin is oxidized, resulting in hypoxia and cyanosis, which may occur in inherited or acquired forms. Inherited or congenital methemo...
محفوظ في:
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| مؤلفون آخرون: | , , |
| منشور في: |
2023
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إضافة وسم
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| _version_ | 1864513546034872320 |
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| author | Abdulrahman Al-Abdulmalek (16329091) |
| author2 | Reem Al-Sulaiman (21606287) Mohammad Abu-Tineh (14829313) Mohamed A Yassin (14777224) |
| author2_role | author author author |
| author_facet | Abdulrahman Al-Abdulmalek (16329091) Reem Al-Sulaiman (21606287) Mohammad Abu-Tineh (14829313) Mohamed A Yassin (14777224) |
| author_role | author |
| dc.creator.none.fl_str_mv | Abdulrahman Al-Abdulmalek (16329091) Reem Al-Sulaiman (21606287) Mohammad Abu-Tineh (14829313) Mohamed A Yassin (14777224) |
| dc.date.none.fl_str_mv | 2023-03-31T06:00:00Z |
| dc.identifier.none.fl_str_mv | 10.2147/jbm.s395865 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Congenital_Methemoglobinemia_First_Confirmed_Case_in_the_Arab_Population_with_a_Novel_Variant_in_the_i_CYB5R_i_Gene_in_the_State_of_Qatar_A_Case_Report/29413400 |
| 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 methemoglobinemia Arab Qatar |
| dc.title.none.fl_str_mv | Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the <i>CYB5R</i> Gene in the State of Qatar: A Case Report |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Methemoglobinemia (MetHb) is a rare hematological condition characterized by high methemoglobin levels in the blood. It happens when hemoglobin is oxidized, resulting in hypoxia and cyanosis, which may occur in inherited or acquired forms. Inherited or congenital methemoglobinemia is a rare autosomal recessive condition and has never been reported in the Arab population. Here we report a case of a 22-year-old Arab man with a positive family history who presented with bluish discoloration of the fingers and lips and was found to have methemoglobinemia. Genetic study on the patient and his family revealed compound heterozygous variants in the CYB5R3 Exon 5 c.431G>A p.Gly144Asp likely pathogenic variant and CYB5R3 Exon 9 c.871G>A p.Val291Met variant of unknown significance. We suggest that the novel c.871G>A p.Val291Met variant could be causative for methemoglobinemia.</p><h2>Other Information</h2><p dir="ltr">Published in: Journal of Blood 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="https://dx.doi.org/10.2147/jbm.s395865" target="_blank">https://dx.doi.org/10.2147/jbm.s395865</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_78249a82cea05f42290f3b3f4359b74c |
| identifier_str_mv | 10.2147/jbm.s395865 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/29413400 |
| publishDate | 2023 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the <i>CYB5R</i> Gene in the State of Qatar: A Case ReportAbdulrahman Al-Abdulmalek (16329091)Reem Al-Sulaiman (21606287)Mohammad Abu-Tineh (14829313)Mohamed A Yassin (14777224)Biological sciencesGeneticsBiomedical and clinical sciencesCardiovascular medicine and haematologymethemoglobinemiaArabQatar<p dir="ltr">Methemoglobinemia (MetHb) is a rare hematological condition characterized by high methemoglobin levels in the blood. It happens when hemoglobin is oxidized, resulting in hypoxia and cyanosis, which may occur in inherited or acquired forms. Inherited or congenital methemoglobinemia is a rare autosomal recessive condition and has never been reported in the Arab population. Here we report a case of a 22-year-old Arab man with a positive family history who presented with bluish discoloration of the fingers and lips and was found to have methemoglobinemia. Genetic study on the patient and his family revealed compound heterozygous variants in the CYB5R3 Exon 5 c.431G>A p.Gly144Asp likely pathogenic variant and CYB5R3 Exon 9 c.871G>A p.Val291Met variant of unknown significance. We suggest that the novel c.871G>A p.Val291Met variant could be causative for methemoglobinemia.</p><h2>Other Information</h2><p dir="ltr">Published in: Journal of Blood 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="https://dx.doi.org/10.2147/jbm.s395865" target="_blank">https://dx.doi.org/10.2147/jbm.s395865</a></p>2023-03-31T06:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.2147/jbm.s395865https://figshare.com/articles/journal_contribution/Congenital_Methemoglobinemia_First_Confirmed_Case_in_the_Arab_Population_with_a_Novel_Variant_in_the_i_CYB5R_i_Gene_in_the_State_of_Qatar_A_Case_Report/29413400CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/294134002023-03-31T06:00:00Z |
| spellingShingle | Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the <i>CYB5R</i> Gene in the State of Qatar: A Case Report Abdulrahman Al-Abdulmalek (16329091) Biological sciences Genetics Biomedical and clinical sciences Cardiovascular medicine and haematology methemoglobinemia Arab Qatar |
| status_str | publishedVersion |
| title | Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the <i>CYB5R</i> Gene in the State of Qatar: A Case Report |
| title_full | Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the <i>CYB5R</i> Gene in the State of Qatar: A Case Report |
| title_fullStr | Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the <i>CYB5R</i> Gene in the State of Qatar: A Case Report |
| title_full_unstemmed | Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the <i>CYB5R</i> Gene in the State of Qatar: A Case Report |
| title_short | Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the <i>CYB5R</i> Gene in the State of Qatar: A Case Report |
| title_sort | Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the <i>CYB5R</i> Gene in the State of Qatar: A Case Report |
| topic | Biological sciences Genetics Biomedical and clinical sciences Cardiovascular medicine and haematology methemoglobinemia Arab Qatar |