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A Case Series of alpha-Thalassemia Intermedia Due to Compound Heterozygosity for Hb Adana [HBA2: c179G > A (or HBA1); p.Gly60Asp] With Other alpha-Thalassemias in Malay Families

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dc.contributor.authorAlauddin, Hen_US
dc.contributor.authorJaapar, NAen_US
dc.contributor.authorAzma, RZen_US
dc.contributor.authorIthnin, Aen_US
dc.contributor.authorRazak, NFAen_US
dc.contributor.authorLoh, CKen_US
dc.contributor.authorAlias, Hen_US
dc.contributor.authorAbdul-Latiff, Zen_US
dc.contributor.authorOthman, Aen_US
dc.date.accessioned2024-05-29T02:51:41Z
dc.date.available2024-05-29T02:51:41Z
dc.date.issued2014
dc.description.abstractHb Adana [HBA2: c179G>A ( or HBA1); p. Gly60Asp] is a rare hemoglobin ( Hb) variant due to a mutation at codon 59 of the alpha 2- or alpha 1-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, alpha 142, Term -> Gln, TAA>CAA; HBA2: c.427 T>C) (alpha(codon) (59)alpha/alpha(CS)alpha), were compared phenotypically with another two siblings carrying the Hb Adana mutation and a 3.7 kb deletion (alpha(codon) (59)alpha/-alpha(3.7)). Although they all had alpha-thalassemia intermedia ( alpha-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.
dc.identifier.doi10.3109/03630269.2014.916720
dc.identifier.epage281
dc.identifier.issn0363-0269
dc.identifier.issue4
dc.identifier.scopusWOS:000340184700009
dc.identifier.spage277
dc.identifier.urihttps://oarep.usim.edu.my/handle/123456789/11228
dc.identifier.volume38
dc.languageEnglish
dc.language.isoen_US
dc.publisherTaylor & Francis Ltden_US
dc.relation.ispartofHemoglobin
dc.sourceWeb Of Science (ISI)
dc.subject-alpha(3.7)en_US
dc.subject- -(SEA)en_US
dc.subjectCodon 59 mutationen_US
dc.subjectHb Adanaen_US
dc.subjectHb Constant Spring (Hb CS)en_US
dc.titleA Case Series of alpha-Thalassemia Intermedia Due to Compound Heterozygosity for Hb Adana [HBA2: c179G > A (or HBA1); p.Gly60Asp] With Other alpha-Thalassemias in Malay Families
dc.typeArticleen_US
dspace.entity.typePublication

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