A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family
ABSTRACT Background CAP+1 [A>C] (HBB:c.‐50A>C) is a rare silent β‐thalassemia (β‐thal) mutation. Carrier individuals of this mutation show borderline hemoglobin (Hb), mean corpuscular volume (MCV) and Hb A2 levels. This mutation was previously reported in combination with different β‐thalassem...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-03-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1602 |
| _version_ | 1818586961417338880 |
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| author | Hossam Murad Faten Moassas Nour A. L. Fakseh |
| author_facet | Hossam Murad Faten Moassas Nour A. L. Fakseh |
| author_sort | Hossam Murad |
| collection | DOAJ |
| description | ABSTRACT Background CAP+1 [A>C] (HBB:c.‐50A>C) is a rare silent β‐thalassemia (β‐thal) mutation. Carrier individuals of this mutation show borderline hemoglobin (Hb), mean corpuscular volume (MCV) and Hb A2 levels. This mutation was previously reported in combination with different β‐thalassemia mutations, leading to variable phenotypes. Case presentation Here, we describe for the first time the combination of silent CAP+1 [A>C] (HBB:c.‐50A>C) mutation with β0 codon 5 [‐CT] (HBB:c.17_18delCT) mutation in a Syrian proband, leading to beta thalassemia intermedia (TI). Conclusions The compound heterozygotes of the silent CAP+1 (A>C) together with another severe beta gene mutation, are phenotypically severe enough to present at an early age and require appropriate therapeutic modalities. |
| first_indexed | 2024-12-16T09:01:17Z |
| format | Article |
| id | doaj.art-7296232119ce4a52aa7cb0f5567df1d3 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-12-16T09:01:17Z |
| publishDate | 2021-03-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-7296232119ce4a52aa7cb0f5567df1d32022-12-21T22:37:10ZengWileyMolecular Genetics & Genomic Medicine2324-92692021-03-0193n/an/a10.1002/mgg3.1602A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian familyHossam Murad0Faten Moassas1Nour A. L. Fakseh2Molecular Biology and Biotechnology Department Human Genetics Div Atomic Energy Commission of Syria Damascus SyriaMolecular Biology and Biotechnology Department Human Genetics Div Atomic Energy Commission of Syria Damascus SyriaMolecular Biology and Biotechnology Department Human Genetics Div Atomic Energy Commission of Syria Damascus SyriaABSTRACT Background CAP+1 [A>C] (HBB:c.‐50A>C) is a rare silent β‐thalassemia (β‐thal) mutation. Carrier individuals of this mutation show borderline hemoglobin (Hb), mean corpuscular volume (MCV) and Hb A2 levels. This mutation was previously reported in combination with different β‐thalassemia mutations, leading to variable phenotypes. Case presentation Here, we describe for the first time the combination of silent CAP+1 [A>C] (HBB:c.‐50A>C) mutation with β0 codon 5 [‐CT] (HBB:c.17_18delCT) mutation in a Syrian proband, leading to beta thalassemia intermedia (TI). Conclusions The compound heterozygotes of the silent CAP+1 (A>C) together with another severe beta gene mutation, are phenotypically severe enough to present at an early age and require appropriate therapeutic modalities.https://doi.org/10.1002/mgg3.1602Rare silent mutationSyria; CAP+1 [A>C]β‐Thalassemia (β‐thal) |
| spellingShingle | Hossam Murad Faten Moassas Nour A. L. Fakseh A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family Molecular Genetics & Genomic Medicine Rare silent mutation Syria; CAP+1 [A>C] β‐Thalassemia (β‐thal) |
| title | A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family |
| title_full | A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family |
| title_fullStr | A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family |
| title_full_unstemmed | A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family |
| title_short | A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family |
| title_sort | rare gene variation cap 1 a c hbb c 50a c associated with codon 5 ct hbb c 17 18delct mutation in syrian family |
| topic | Rare silent mutation Syria; CAP+1 [A>C] β‐Thalassemia (β‐thal) |
| url | https://doi.org/10.1002/mgg3.1602 |
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