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. (August 2014)

• Record Type: Journal Article
• Authors: Alauddin, Hafiza; Jaapar, Noor-Adilah; Azma, Raja Z.; Ithnin, Azlin; Razak, Noor-Farisah A.; Loh, C-Khai; Alias, Hamidah; Abdul-Latiff, Zarina; Othman, Ainoon
• Is Part Of: Hemoglobin. Volume 38:Number 4(2014)
• Page Start: 277
• Page End: 281
• Publication Date: 2014-08
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2014.916720
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title>Abstract</title> <p>Hb Adana [<italic>HBA2</italic>: c179G&gt;A (or <italic>HBA1</italic>); 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, <italic>T</italic>AA&gt;<italic>C</italic>AA; <italic>HBA2</italic>: c.427 T&gt;C) (α^{codon 59}α/α^CSα), were compared phenotypically with another two siblings carrying the Hb Adana mutation and a 3.7 kb deletion (α^{codon 59}α/−α^3.7). 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.</p> </abstract>