A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: C179G>A (or HBA1); P.Gly60Asp] with other α-thalassemias in malay families
Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a rare hemoglobin (Hb) variant due to a mutation at codon 59 of the α2- or α1-globin gene resulting in a glycine to aspartic acid substitution. Two siblings with a unique coinheritance of Hb Adana and Hb Constant Spring (Hb CS, α142, Term→Gln,...
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2018
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my.usim-158682018-02-13T05:18:25Z A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: C179G>A (or HBA1); P.Gly60Asp] with other α-thalassemias in malay families Alauddin H., Jaapar N.-A. Azma R.Z., Ithnin A. Razak N.-F.A., Loh C.-K. Alias H., Abdul-Latiff Z. Othman A Codon 59 mutation; Hb Adana; Hb Constant Spring (Hb CS) Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a rare hemoglobin (Hb) variant due to a mutation at codon 59 of the α2- or α1-globin gene resulting in a glycine to aspartic acid substitution. Two siblings with a unique coinheritance of Hb Adana and Hb Constant Spring (Hb CS, α142, Term→Gln, TAA>CAA; HBA2: c.427 T>C) (α codon 59α/αCSα), were compared phenotypically with another two siblings carrying the Hb Adana mutation and a 3.7 kb deletion (αcodon 59α/-α3.7). Although they all had α-thalassemia intermedia (α-TI), the former were clinically more severe than the latter. The first pair of siblings presented at a much younger age than the second pair and showed lower Hb levels and significant extramedullay hemopoiesis. Another case of a hydropic fetus as a result of Hb H/Hb Adana is also described. Their clinical phenotypes and hematological parameters are all presented for comparison. © 2014 Informa Healthcare USA, Inc. All rights reserved: reproduction in whole or part not permitted. 2018-02-13T05:18:25Z 2018-02-13T05:18:25Z 2013 Article 3630269 http://ddms.usim.edu.my:80/jspui/handle/123456789/15868 en Informa Healthcare |
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Codon 59 mutation; Hb Adana; Hb Constant Spring (Hb CS) |
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Codon 59 mutation; Hb Adana; Hb Constant Spring (Hb CS) Alauddin H., Jaapar N.-A. Azma R.Z., Ithnin A. Razak N.-F.A., Loh C.-K. Alias H., Abdul-Latiff Z. Othman A A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: C179G>A (or HBA1); P.Gly60Asp] with other α-thalassemias in malay families |
| description |
Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a rare hemoglobin (Hb) variant due to a mutation at codon 59 of the α2- or α1-globin gene resulting in a glycine to aspartic acid substitution. Two siblings with a unique coinheritance of Hb Adana and Hb Constant Spring (Hb CS, α142, Term→Gln, TAA>CAA; HBA2: c.427 T>C) (α codon 59α/αCSα), were compared phenotypically with another two siblings carrying the Hb Adana mutation and a 3.7 kb deletion (αcodon 59α/-α3.7). Although they all had α-thalassemia intermedia (α-TI), the former were clinically more severe than the latter. The first pair of siblings presented at a much younger age than the second pair and showed lower Hb levels and significant extramedullay hemopoiesis. Another case of a hydropic fetus as a result of Hb H/Hb Adana is also described. Their clinical phenotypes and hematological parameters are all presented for comparison. © 2014 Informa Healthcare USA, Inc. All rights reserved: reproduction in whole or part not permitted. |
| format |
Article |
| author |
Alauddin H., Jaapar N.-A. Azma R.Z., Ithnin A. Razak N.-F.A., Loh C.-K. Alias H., Abdul-Latiff Z. Othman A |
| author_facet |
Alauddin H., Jaapar N.-A. Azma R.Z., Ithnin A. Razak N.-F.A., Loh C.-K. Alias H., Abdul-Latiff Z. Othman A |
| author_sort |
Alauddin H., Jaapar N.-A. |
| title |
A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: C179G>A (or HBA1); P.Gly60Asp] with other α-thalassemias in malay families |
| title_short |
A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: C179G>A (or HBA1); P.Gly60Asp] with other α-thalassemias in malay families |
| title_full |
A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: C179G>A (or HBA1); P.Gly60Asp] with other α-thalassemias in malay families |
| title_fullStr |
A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: C179G>A (or HBA1); P.Gly60Asp] with other α-thalassemias in malay families |
| title_full_unstemmed |
A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: C179G>A (or HBA1); P.Gly60Asp] with other α-thalassemias in malay families |
| title_sort |
case series of α-thalassemia intermedia due to compound heterozygosity for hb adana [hba2: c179g>a (or hba1); p.gly60asp] with other α-thalassemias in malay families |
| publisher |
Informa Healthcare |
| publishDate |
2018 |
| url |
http://ddms.usim.edu.my:80/jspui/handle/123456789/15868 |
| _version_ |
1645154036555448320 |
| score |
13.222552 |